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William B. Dobyns

TitlePROFESSOR
InstitutionUniversity of Chicago
DepartmentHuman Genetics
AddressChicago IL 60637
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    Collapse Research 
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    R01HL130996     (BENNETT, JAMES T)Feb 8, 2016 - Jun 30, 2025
    NIH
    Mosaic: post-zygotic mutations in vascular malformations
    Role: Co-Principal Investigator
    R01NS092772     (MILLEN, KATHLEEN JOYCE)Sep 30, 2015 - Jul 31, 2021
    NIH
    Megalencephaly and segmental brain overgrowth in humans
    Role: Co-Principal Investigator
    R01NS058721     (SHERR, ELLIOTT)Mar 1, 2008 - Apr 30, 2026
    NIH
    ACC: Callosal Agenesis as a Window into Common Neurodevelopmental Disorders
    Role: Co-Principal Investigator
    R01NS050375     (DOBYNS, WILLIAM B.)Dec 1, 2004 - May 31, 2021
    NIH
    The genetic basis of Dandy-Walker and other mid-hindbrain malformations
    Role: Principal Investigator
    P01NS039404     (DOBYNS, WILLIAM B)Apr 5, 1999 - Mar 31, 2005
    NIH
    LISSENCEPHALY--MOLECULAR BASIS OF NEURONAL MIGRATION
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Huang S, Dobyns W, Duncan C, Nascene D. Diffuse CNS cortical vein malformations with chromosome 17q microduplication: Possible link to SEC14L1. J Cerebrovasc Endovasc Neurosurg. 2023 Dec 26. PMID: 38146067.
      Citations:    
    2. Leslie AC, Ward MP, Dobyns WB. Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia. Am J Med Genet A. 2024 Mar; 194(3):e63416. PMID: 37933701.
      Citations:    Fields:    Translation:Humans
    3. Sadikovic B, Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition. Res Sq. 2023 Sep 29. PMID: 37841849; PMCID: PMC10571636.
      Citations:    
    4. Alves CAPF, Sidpra J, Manteghinejad A, Sudhakar S, Massey FV, Aldinger KA, Haldipur P, Lucato LT, Ferraciolli SF, Teixeira SR, Öztekin Ö, Bhattacharya D, Taranath A, Prabhu SP, Mirsky DM, Andronikou S, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Barkovich MJ, Whitehead MT, Mankad K. Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis. AJNR Am J Neuroradiol. 2023 10; 44(10):1201-1207. PMID: 37591769; PMCID: PMC10549954.
      Citations:    Fields:    Translation:Humans
    5. Nordgren A, Anderlid BM, Jacquemont ML, Boschann F, Le Guyader G, Nordenskjöld M, Stoltenburg C, Horn D, Drenckhahn A, Lefebvre M, Attie-Bitach T, Forey P, Ernould F, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Caron V, Chassaing N, Ragge N, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Plaisancié J, Hamdan FF, Smirnov V, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P, DDD Study, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 08; 25(8):100856. PMID: 37092537; PMCID: PMC10757562.
      Citations: 1     Fields:    Translation:Humans
    6. Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van Hirtum-Das M, Breckpot J, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Sherr EH, Dobyns WB, Baines RA, Parker JA, Banka S, Campeau PM, Escayg A, van der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, Argilli E, Genomics England Research Consortium, Warwicker J, Sorlin A, Aledo-Serrano Á, Hammer TB, Møller RS. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy. Brain. 2023 04 19; 146(4):1357-1372. PMID: 36074901; PMCID: PMC10319782.
      Citations: 2     Fields:    Translation:HumansAnimals
    7. Wang L, Heffner C, Vong KI, Barrows C, Ha YJ, Lee S, Lara-Gonzalez P, Jhamb I, Van Der Meer D, Loughnan R, Parker N, Sievert D, Mittal S, Issa MY, Andreassen OA, Dale A, Dobyns WB, Zaki MS, Murray SA, Gleeson JG. TMEM161B modulates radial glial scaffolding in neocortical development. Proc Natl Acad Sci U S A. 2023 01 24; 120(4):e2209983120. PMID: 36669109; PMCID: PMC9942823.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    8. Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL, Gezdirici A. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079. PMID: 36283405; PMCID: PMC9674946.
      Citations: 1     Fields:    Translation:HumansAnimals
    9. Whitehead MT, Barkovich MJ, Sidpra J, Alves CA, Mirsky DM, Bhattacharya D, Sudhakar S, Taranath A, Andronikou S, Prabhu SP, Aldinger KA, Haldipur P, Millen KJ, Barkovich AJ, Dobyns WB, Mankad K, Öztekin Ö, Lucato LT, Boltshauser E. Refining the Neuroimaging Definition of the Dandy-Walker Phenotype. AJNR Am J Neuroradiol. 2022 10; 43(10):1488-1493. PMID: 36137655; PMCID: PMC9575531.
      Citations: 3     Fields:    Translation:Humans
    10. Di Donato N, Guerrini R, Billington CJ, Barkovich AJ, Dinkel P, Freri E, Heide M, Gershon ES, Gertler TS, Hopkin RJ, Jacob S, Keedy SK, Kooshavar D, Lockhart PJ, Lohmann DR, Mahmoud IG, Parrini E, Schrock E, Severi G, Timms AE, Webster RI, Willis MJH, Zaki MS, Gleeson JG, Leventer RJ, Dobyns WB. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders. Brain. 2022 09 14; 145(9):3274-3287. PMID: 35769015; PMCID: PMC9989350.
      Citations: 2     Fields:    Translation:Humans
    11. Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Hoefele J, Haber B, Kotzaeridou U, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA, Vasileiou G, Rieger M, Reis A, Brunet T, Wagner M, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022 10; 24(10):2065-2078. PMID: 35980381; PMCID: PMC10765599.
      Citations: 1     Fields:    Translation:HumansCells
    12. Wei AD, Wakenight P, Zwingman TA, Bard AM, Sahai N, Willemsen MH, Schelhaas HJ, Stegmann APA, Verhoeven JS, de Man SA, Wessels MW, Kleefstra T, Shinde DN, Helbig KL, Basinger A, Wagner VF, Rodriguez-Buritica D, Bryant E, Millichap JJ, Millen KJ, Dobyns WB, Ramirez JM, Kalume FK. Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability. J Neurophysiol. 2022 07 01; 128(1):40-61. PMID: 35583973; PMCID: PMC9236882.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    13. Pirozzi F, Berkseth M, Shear R, Gonzalez L, Timms AE, Sulc J, Pao E, Oyama N, Forzano F, Conti V, Guerrini R, Doherty ES, Saitta SC, Lockwood CM, Pritchard CC, Dobyns WB, Novotny E, Wright JNN, Saneto RP, Friedman S, Hauptman J, Ojemann J, Kapur RP, Mirzaa GM. Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. Brain. 2022 04 29; 145(3):925-938. PMID: 35355055; PMCID: PMC9630661.
      Citations: 10     Fields:    Translation:Humans
    14. Cousin MA, Dsouza NR, Challman TD, Wain KE, Powis Z, Minks K, Gabau E, Stolerman E, Washington C, Louie R, Lanpher BC, Kemppainen JL, Innes M, Kooy F, Meuwissen M, Goldenberg A, Lecoquierre F, Vera G, Diderich KEM, Sheidley B, El Achkar CM, Park M, Hamdan FF, Michaud JL, Lewis AJ, Wagner M, Weigand H, van Gassen K, Brilstra EH, Itzikowitz G, O'Heir E, Allen J, Donald KA, Korf BR, Skelton T, Thompson M, Robin NH, Rudy NL, Dobyns WB, Foss K, Zarate YA, Bosanko KA, Ranza E, Blanc X, Antonarakis SE, McWalter K, Torti E, Millan F, Dameron A, Tokita M, Zimmermann MT, Klee EW, Piton A, Schalk A, Trimouille A, Lasseaux E, Lacombe D, Angelini C, Michaud V, Van-Gils J, Spataro N, Ruiz A, Zweier C, Reis A, Journel H, Keren B, Passemard S, Mignot C, Alembik Y, Durand B, Tran Mau-Them F, Gerard B. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. J Med Genet. 2022 Oct; 59(10):965-975. PMID: 34930816; PMCID: PMC9241146.
      Citations: 3     Fields:    Translation:Humans
    15. Subramanian S, Biswas A, Alves CAPF, Sudhakar SV, Shekdar KV, Krishnan P, Shroff M, Taranath A, Arrigoni F, Aldinger KA, Leventer RJ, Dobyns WB, Mankad K. ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development. AJNR Am J Neuroradiol. 2022 01; 43(1):146-150. PMID: 34857515; PMCID: PMC8757559.
      Citations: 1     Fields:    Translation:Humans
    16. Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, Stafford JM, Descostes N, Lee P, Caraffi SG, Ivanovski I, Errichiello E, Zweier C, Zuffardi O, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho MT, Weber A, Swale A, Badea TC, Mao CA, Garavelli L, Dobyns WB, Reinberg D. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Mol Cell. 2021 Nov 18; 81(22):4757. PMID: 34798045.
      Citations: 3     Fields:    
    17. Liu S, Aldinger KA, Cheng CV, Kiyama T, Dave M, McNamara HK, Zhao W, Stafford JM, Descostes N, Lee P, Caraffi SG, Schneider M, Papavasiliou AS, Perry MS, Humberson J, Cho MT, Weber A, Swale A, Badea TC, Mao CA, Garavelli L, Dobyns WB, Reinberg D, Ivanovski I, Errichiello E, Zweier C, Zuffardi O. NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain. Mol Cell. 2021 11 18; 81(22):4663-4676.e8. PMID: 34637754; PMCID: PMC8604784.
      Citations: 13     Fields:    Translation:HumansAnimalsCells
    18. Koenig M, Dobyns WB, Di Donato N. Lissencephaly: Update on diagnostics and clinical management. Eur J Paediatr Neurol. 2021 Nov; 35:147-152. PMID: 34731701.
      Citations: 7     Fields:    Translation:Humans
    19. Mancini GMS, Smits DJ, Dekker J, Schot R, de Wit MCY, Lequin MH, Dremmen M, Brooks AS, van Ham T, Verheijen FW, Fornerod M, Dobyns WB, Wilke M. Multidisciplinary interaction and MCD gene discovery. The perspective of the clinical geneticist. Eur J Paediatr Neurol. 2021 Nov; 35:27-34. PMID: 34592643.
      Citations: 2     Fields:    Translation:Humans
    20. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Response to Hamosh et al. Am J Hum Genet. 2021 09 02; 108(9):1809-1810. PMID: 34478656; PMCID: PMC8456172.
      Citations:    Fields:    
    21. Bonilla-Velez J, Whitlock KB, Ganti S, Zenner K, Cheng CV, Jensen DM, Pham MM, Mitchell RM, Dobyns W, Bly RA, Bennett JT, Dahl JP, Perkins JA. Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations. Int J Pediatr Otorhinolaryngol. 2021 Dec; 151:110869. PMID: 34537546; PMCID: PMC9632366.
      Citations: 2     Fields:    Translation:Humans
    22. Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I, Niceta M, Cesario C. Expanding the KIF4A-associated phenotype. Am J Med Genet A. 2021 12; 185(12):3728-3739. PMID: 34346154; PMCID: PMC9291479.
      Citations: 4     Fields:    Translation:HumansCells
    23. Zhang J, Tang W, Bhatia NK, Xu Y, Paudyal N, Liu D, Kim S, Song R, XiangWei W, Shaulsky G, Myers SJ, Dobyns W, Jayaraman V, Traynelis SF, Yuan H, Bozarth X. A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology. Front Genet. 2021; 12:694312. PMID: 34413877; PMCID: PMC8369916.
      Citations: 6     
    24. Dobyns WB. The Names of Things: The 2018 Bernard Sachs Lecture. Pediatr Neurol. 2021 09; 122:41-49. PMID: 34330614.
      Citations:    Fields:    Translation:Humans
    25. Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Bellan C, Simonati A, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R, ATP1A2/A3-collaborators, Møller RS, Lesca G. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain. 2021 06 22; 144(5):1435-1450. PMID: 33880529.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    26. Aldinger KA, Thomson Z, Phelps IG, Haldipur P, Deng M, Timms AE, Hirano M, Santpere G, Roco C, Rosenberg AB, Lorente-Galdos B, Gulden FO, O'Day D, Overman LM, Lisgo SN, Alexandre P, Sestan N, Doherty D, Dobyns WB, Seelig G, Glass IA, Millen KJ. Spatial and cell type transcriptional landscape of human cerebellar development. Nat Neurosci. 2021 08; 24(8):1163-1175. PMID: 34140698; PMCID: PMC8338761.
      Citations: 51     Fields:    Translation:HumansCells
    27. Pirozzi F, Lee B, Horsley N, Burkardt DD, Dobyns WB, Graham JM, Schallner J, Porrmann J, Di Donato N, Sanchez-Lara PA, Mirzaa GM, Dentici ML, Cesario C. Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes. Am J Med Genet A. 2021 09; 185(9):2719-2738. PMID: 34087052; PMCID: PMC8725575.
      Citations: 9     Fields:    Translation:Humans
    28. Moutal A, Maas SM, Motazacker MM, Mancini GMS, van Slegtenhorst MA, Andreou A, Cox H, Vogt J, Laufman J, Kostandyan N, Babikyan D, Hancarova M, Bendova S, Sedlacek Z, Aldinger KA, Sherr EH, Argilli E, England EM, Bonneau D, Colin E, Khanna R, Dobyns WB, Lohkamp B, Jeanne M, Demory H, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, Audebert-Bellanger S, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Bézieau S, Honnorat J, Toutain A, Laumonnier F. Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities. Am J Hum Genet. 2021 05 06; 108(5):951-961. PMID: 33894126; PMCID: PMC8206156.
      Citations: 13     Fields:    Translation:Humans
    29. Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, Genetti CA, Suslovitch V, Rodan LH, Tiller GE, Lesca G, Gripp KW, Asadollahi R, Hamosh A, Applegate CD, Turnpenny PD, Simon MEH, Volker-Touw CML, Gassen KLIV, Binsbergen EV, Pfundt R, Gardeitchik T, Vries BBA, Immken LL, Buchanan C, Willing M, Toler TL, Fassi E, Baker L, Vansenne F, Wang X, Ambrus JL, Fannemel M, Posey JE, Agolini E, Novelli A, Rauch A, Boonsawat P, Fagerberg CR, Larsen MJ, Kibaek M, Labalme A, Poisson A, Payne KK, Walsh LE, Aldinger KA, Balciuniene J, Skraban C, Gray C, Murrell J, Bupp CP, Pascolini G, Grammatico P, Rasool IG, Zahoor MY, Kraus C, Iqbal M, Uguen K, Audebert-Bellanger S, Ferec C, Redon S, Baker J, Wu Y, Zampino G, Syrbe S, Brosse I, Jamra RA, Dobyns WB, Cohen LL, Blomhoff A, Agrawal PB, Beggs AH, Yu TW, Broly M, Küry S, Nizon M, Reis A, Mignot C, Keren B, Courtin T. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. PMID: 33658631; PMCID: PMC9472083.
      Citations: 19     Fields:    Translation:Humans
    30. Boerrigter MM, Aldinger KA, Everman DB, Lovgren AK, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, de Man SA, Dye TJ, Elmslie F, Feuk L, Gertler T, Giorgio E, Haldeman-Englert CR, Hurst ACE, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, O'Leary M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Savatt JM, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Whiting S, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Pujol A, Rodríguez-Palmero A, Gómez-Andrés D, Marcos-Alcalde Í, Popp B, Arpin S, Cogné B, Coubes C, Denommé-Pichon AS, García-Miñaúr S, Gruchy N, Haack TB, Haukanes BI, Hoyer J, Isidor B, Müller AJ, Pacio-Míguez M, Sarrazin E, Schlüter A, Schönewolf-Greulich B, van Drie E, Waldmüller S, Zweier C, Gómez-Puertas P, Tümer Z. DLG4-related synaptopathy: a new rare brain disorder. Genet Med. 2021 05; 23(5):888-899. PMID: 33597769.
      Citations: 13     Fields:    Translation:Humans
    31. Smits DJ, Schot R, Wilke M, van Slegtenhorst M, de Wit MCY, Dremmen MHG, Dobyns WB, Barkovich AJ, Mancini GMS. Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia. Neurol Genet. 2021 Apr; 7(2):e558. PMID: 33928188; PMCID: PMC7830234.
      Citations: 4     
    32. Muir AM, Gardner JF, van Jaarsveld RH, de Lange IM, van der Smagt JJ, Wilson GN, Dubbs H, Goldberg EM, Zitano L, Bupp C, Martinez J, Srour M, Accogli A, Alhakeem A, Meltzer M, Gropman A, Brewer C, Caswell RC, Montgomery T, McKenna C, McKee S, Powell C, Vasudevan PC, Brady AF, Joss S, Tysoe C, Noh G, Tarnopolsky M, Brady L, Zafar M, Schrier Vergano SA, Murray B, Sawyer L, Hainline BE, Sapp K, DeMarzo D, Huismann DJ, Wentzensen IM, Schnur RE, Monaghan KG, Juusola J, Rhodes L, Dobyns WB, Lecoquierre F, Goldenberg A, Polster T, Axer-Schaefer S, Platzer K, Hoffman TL, MacArthur DG, O'Leary MC, VanNoy GE, England E, Varghese VC, Mefford HC, Klöckner C. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genet Med. 2021 05; 23(5):881-887. PMID: 33473207; PMCID: PMC8107131.
      Citations: 6     Fields:    Translation:Humans
    33. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15. PMID: 33417889; PMCID: PMC7820621.
      Citations: 37     Fields:    Translation:Humans
    34. Pierpont EI, Berry SA, Lin AE, Lohr JL, Schimmenti LA, Dobyns WB. Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945-2020). Am J Med Genet A. 2021 02; 185(2):319-323. PMID: 33241662.
      Citations:    Fields:    Translation:Humans
    35. Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, Guerrini R, Leventer RJ, Dobyns WB. The spectrum of brain malformations and disruptions in twins. Am J Med Genet A. 2021 09; 185(9):2690-2718. PMID: 33205886; PMCID: PMC8683564.
      Citations: 4     Fields:    Translation:Humans
    36. Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. Am J Med Genet A. 2020 11; 182(11):2646-2661. PMID: 32924308.
      Citations: 8     Fields:    Translation:Humans
    37. Oegema R, Barakat TS, Wilke M, Stouffs K, Amrom D, Aronica E, Bahi-Buisson N, Conti V, Fry AE, Geis T, Andres DG, Parrini E, Pogledic I, Said E, Soler D, Valor LM, Zaki MS, Mirzaa G, Dobyns WB, Reiner O, Guerrini R, Pilz DT, Hehr U, Leventer RJ, Jansen AC, Mancini GMS, Di Donato N. International consensus recommendations on the diagnostic work-up for malformations of cortical development. Nat Rev Neurol. 2020 11; 16(11):618-635. PMID: 32895508; PMCID: PMC7790753.
      Citations: 20     Fields:    Translation:Humans
    38. Zenner K, Jensen DM, Cook TT, Dmyterko V, Bly RA, Ganti S, Mirzaa GM, Dobyns WB, Perkins JA, Bennett JT. Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations. Genet Med. 2021 01; 23(1):123-130. PMID: 32884133; PMCID: PMC7796969.
      Citations: 14     Fields:    Translation:Humans
    39. Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L, Day J, Withrow K, Pandya A, Teasley J, Dobyns WB, Mathews KD, Moore SA. Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A). J Neuropathol Exp Neurol. 2020 09 01; 79(9):998-1010. PMID: 32827036; PMCID: PMC7445049.
      Citations: 1     Fields:    Translation:Humans
    40. Andelman-Gur MM, Leventer RJ, Hujirat M, Ganos C, Yosovich K, Carmi N, Lev D, Nissenkorn A, Dobyns WB, Bhatia K, Lerman-Sagie T, Blumkin L. Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? Am J Med Genet A. 2020 10; 182(10):2207-2213. PMID: 33001581.
      Citations:    Fields:    Translation:Humans
    41. Rabin R, Radmanesh A, Glass IA, Dobyns WB, Aldinger KA, Shieh JT, Romoser S, Bombei H, Dowsett L, Trapane P, Bernat JA, Baker J, Mendelsohn NJ, Popp B, Siekmeyer M, Sorge I, Sansbury FH, Watts P, Foulds NC, Burton J, Hoganson G, Hurst JA, Menzies L, Osio D, Kerecuk L, Cobben JM, Jacquemont S, Veenstra-Knol HE, Lemmink HH, Keller-Ramey J, Wentzensen IM, Punj S, McWalter K, Lenberg J, Ellsworth KA, Radtke K, Akbarian S, Pappas J, Jizi K, Bélanger SA, Löhner K. Genotype-phenotype correlation at codon 1740 of SETD2. Am J Med Genet A. 2020 09; 182(9):2037-2048. PMID: 32710489.
      Citations: 11     Fields:    Translation:Humans
    42. Brock S, Vanderhasselt T, Vermaning S, Keymolen K, Romaniello R, Wieczorek D, Kuechler A, Kasteleijn E, Schot R, Mancini GMS, Webster R, Mohammad S, Leventer RJ, Mirzaa G, Dobyns WB, Meuwissen M, Jansen AC, Stouffs K, Régal L, Storm TM, Schaeferhoff K, Hehr U, Krägeloh-Mann I, Haack TB, Bahi-Buisson N. Defining the phenotypical spectrum associated with variants in TUBB2A. J Med Genet. 2021 01; 58(1):33-40. PMID: 32571897; PMCID: PMC7803914.
      Citations: 8     Fields:    Translation:Humans
    43. Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB, Guimier A, Amiel J. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Am J Med Genet A. 2020 07; 182(7):1576-1591. PMID: 32500973.
      Citations: 11     Fields:    Translation:Humans
    44. Hevner RF, Dobyns WB, Nambot S. Reply to Hsueh YP et al. Eur J Hum Genet. 2020 08; 28(8):999. PMID: 32273581; PMCID: PMC7471462.
      Citations:    Fields:    Translation:Humans
    45. Lennox AL, Hoye ML, Jiang R, Johnson-Kerner BL, Suit LA, Venkataramanan S, Sheehan CJ, Alsina FC, Fregeau B, Aldinger KA, Moey C, Lobach I, Babovic-Vuksanovic D, Blackburn PR, Bunt J, Campeau PM, Chung BHY, Curry C, D'Agostino MD, Di Donato N, Innes AM, Kimball A, Klee EW, Mirzaa G, Miyake N, Matsumoto N, Fujita A, Blok LS, Dobyns W, Richards LJ, Barkovich AJ, Floor SN, Silver DL, Sherr EH, Afenjar A, Bézieau S, Burglen L, Charles P, Cogné B, Faivre L, Héron D, Isidor B, Keren B, Kuentz P, Küry S, Martin-Coignard D, Mignot C, Nava C, Nizon M, Rodriguez D, Thauvin-Robinet C, Thevenon J, Vincent M, Ziegler A. Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development. Neuron. 2020 05 06; 106(3):404-420.e8. PMID: 32135084; PMCID: PMC7331285.
      Citations: 67     Fields:    Translation:HumansAnimalsCells
    46. Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features. Eur J Paediatr Neurol. 2020 May; 26:46-60. PMID: 32169460.
      Citations: 3     Fields:    Translation:Humans
    47. Kholmanskikh SS, Bron A, Carmi E, Lafon A, Dobyns WB, Polubothu S, Faravelli F, Kinsler VA, Ross ME, Vabres P, Sorlin A, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Captier G, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Mathieu-Dramard M, Thevenon J, Bernard G, Thauvin C, Faivre L, Rivière JB. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2020 03; 52(3):353. PMID: 32034319.
      Citations:    Fields:    
    48. Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG, University of Washington Center for Mendelian Genomics, Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC, Deconinck N. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 04 22; 106(2):237-245.e8. PMID: 32097630; PMCID: PMC7357395.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    49. Mirzaa G, Bhoj E, Cousin MA, Kruisselbrink TM, Lanpher BC, Klee EW, Fiala E, Grange DK, Meschino WS, Hiatt SM, Cooper GM, Smith WE, Dumas M, Lehman A, CAUSES Study, Inglese C, Guerrini R, Vetro A, Kaplan ES, Miramar D, Bodamer O, Herkert JC, Pajusalu S, Filiano JJ, Li D, Juusola J, Devriendt K, Dobyns WB, Hevner R, Nambot S, Faivre L, Thevenon J, Bruel AL, Mosca-Boidron AL, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A, Mignot C, Petit F, Rossi M, Metreau J, Layet V, Amram D, Boute-Bénéjean O, Olivié H, Nizon M, Van Gils J, Fergelot P, Õunap K, Smol T, Piton A, Gérard B, Chantot-Bastaraud S, Bienvenu T, Bilan F, Poé C, Chevarin M, Jouan T, Tisserant E, Rivière JB, Tran Mau-Them F, Philippe C, Duffourd Y, Thauvin-Robinet C. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. Eur J Hum Genet. 2020 06; 28(6):770-782. PMID: 32005960; PMCID: PMC7253452.
      Citations: 12     Fields:    Translation:HumansAnimals
    50. Mak CCY, Doherty D, Lin AE, Cho MT, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Amlie-Wolf L, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Viskochil D, Hoffman TL, Chung BHY, Vegas N, Viot G, Dimartino C, Ehmke N, Horn D, Filippini F, Puk O, Strom TM, Kaindl AM, Chelly J, Powis Z, Lyonnet S, Cormier-Daire V, Amiel J, Gordon CT. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain. 2020 01 01; 143(1):55-68. PMID: 31834374; PMCID: PMC7962909.
      Citations: 17     Fields:    Translation:HumansCells
    51. Burkardt DD, Tatton-Brown K, Dobyns W, Graham JM. Approach to overgrowth syndromes in the genome era. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):483-490. PMID: 31793186.
      Citations: 6     Fields:    Translation:Humans
    52. Nelson BR, Roby JA, Dobyns WB, Rajagopal L, Gale M, Adams Waldorf KM. Immune Evasion Strategies Used by Zika Virus to Infect the Fetal Eye and Brain. Viral Immunol. 2020 Jan/Feb; 33(1):22-37. PMID: 31687902; PMCID: PMC6978768.
      Citations: 15     Fields:    Translation:HumansCells
    53. Kholmanskikh SS, Bron A, Carmi E, Lafon A, Dobyns WB, Polubothu S, Faravelli F, Kinsler VA, Ross ME, Vabres P, Sorlin A, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Captier G, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Mathieu-Dramard M, Thevenon J, Bernard G, Thauvin C, Faivre L, Rivière JB. Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019 Nov; 51(11):1660. PMID: 31611689.
      Citations: 1     Fields:    
    54. Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, Ganti S, Whitlock KB, Dobyns WB, Perkins J, Bennett JT. Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. JCI Insight. 2019 11 01; 4(21). PMID: 31536475; PMCID: PMC6948764.
      Citations: 13     Fields:    Translation:Humans
    55. Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB, Pichon B. Duplication 2p16 is associated with perisylvian polymicrogyria. Am J Med Genet A. 2019 12; 179(12):2343-2356. PMID: 31660690.
      Citations: 1     Fields:    Translation:HumansCells
    56. Aldinger KA, Dobyns WB, Marzin P, Rondeau S, Alessandri JL, Isidor B, Heron D, Keren B, Cormier-Daire V. SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):509-518. PMID: 31643139.
      Citations: 14     Fields:    Translation:Humans
    57. Haldipur P, Aldinger KA, Bernardo S, Deng M, Timms AE, Overman LM, Winter C, Lisgo SN, Silvestri E, Manganaro L, Russo R, Kidron D, Hof PR, Gerrelli D, Lindsay SJ, Dobyns WB, Glass IA, Alexandre P, Millen KJ, Razavi F, Adle-Biassette H, Guimiot F. Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum. Science. 2019 10 25; 366(6464):454-460. PMID: 31624095; PMCID: PMC6897295.
      Citations: 51     Fields:    Translation:HumansAnimalsCells
    58. Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG, Di Donato N, Abdin D. Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet. 2019 10 03; 105(4):844-853. PMID: 31585108; PMCID: PMC6817548.
      Citations: 5     Fields:    Translation:Humans
    59. Kholmanskikh SS, Bron A, Carmi E, Lafon A, Dobyns WB, Polubothu S, Faravelli F, Kinsler VA, Ross ME, Vabres P, Sorlin A, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Captier G, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Mathieu-Dramard M, Thevenon J, Bernard G, Thauvin C, Faivre L, Rivière JB. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019 10; 51(10):1438-1441. PMID: 31570889; PMCID: PMC6858542.
      Citations: 9     Fields:    Translation:HumansCells
    60. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674. PMID: 31491411; PMCID: PMC6732524.
      Citations: 6     Fields:    
    61. Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS. Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis. Am J Hum Genet. 2019 10 03; 105(4):689-705. PMID: 31495489; PMCID: PMC6817560.
      Citations: 23     Fields:    Translation:HumansCells
    62. Oegema R, Barkovich AJ, Mancini GMS, Guerrini R, Dobyns WB. Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals. Neurology. 2019 10 01; 93(14):e1360-e1373. PMID: 31484711; PMCID: PMC6814414.
      Citations: 13     Fields:    Translation:Humans
    63. Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet. 2019 09 05; 105(3):606-615. PMID: 31474318; PMCID: PMC6731369.
      Citations: 35     Fields:    Translation:Humans
    64. Dobyns WB, Mirzaa GM. Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):582-590. PMID: 31441589.
      Citations: 23     Fields:    Translation:Humans
    65. Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bax DA, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Dobyns WB, Mohammed AA, Clokie SJH, Jiang YH, Andersen H, Sullivan J, Chassevent A, Smith-Hicks C, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Ragge NK, Bellacchio E, Ciolfi A, Memo L, Zazo Seco C, Sørensen KP, Powis Z, Petrovski S, Tartaglia M, Chassaing N, Calvas P. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 09 05; 105(3):640-657. PMID: 31402090; PMCID: PMC6731360.
      Citations: 17     Fields:    Translation:Humans
    66. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424. PMID: 31327508; PMCID: PMC6699142.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    67. Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Costello syndrome: Clinical phenotype, genotype, and management guidelines. Am J Med Genet A. 2019 09; 179(9):1725-1744. PMID: 31222966; PMCID: PMC8238015.
      Citations: 32     Fields:    Translation:Humans
    68. Karasozen Y, Osbun JW, Parada CA, Busald T, Tatman P, Gonzalez-Cuyar LF, Hale CJ, Alcantara D, O'Driscoll M, Dobyns WB, Murray M, Kim LJ, Byers P, Dorschner MO, Ferreira M. Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms. Am J Hum Genet. 2019 05 02; 104(5):968-976. PMID: 31031011; PMCID: PMC6506794.
      Citations: 11     Fields:    Translation:HumansCells
    69. Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Haven J, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH, Hammer TB, Héron D, Lourenço CM, Powis Z. SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat. 2019 07; 40(7):908-925. PMID: 30817854; PMCID: PMC6661012.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    70. Vandervore LV, Schot R, Kasteleijn E, Oegema R, Stouffs K, Gheldof A, Grochowska MM, van der Sterre MLT, van Unen LMA, Wilke M, Elfferich P, Heijsman D, Grandone A, Demmers JAA, Dekkers DHW, Slotman JA, Kremers GJ, Schaaf GJ, Masius RG, van Essen AJ, Rump P, van Haeringen A, Altunoglu U, Kalayci T, Poot RA, Dobyns WB, Bahi-Buisson N, Verheijen FW, Jansen AC, Mancini GMS, van der Spek PJ, Peeters E. Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics. Brain. 2019 04 01; 142(4):867-884. PMID: 30879067; PMCID: PMC6439326.
      Citations: 17     Fields:    Translation:HumansCells
    71. Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Monteiro FP, Costa LA, Freitas E, Kitajima JP, Kok F. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan; 63(1):103624. PMID: 30690204.
      Citations: 7     Fields:    Translation:HumansAnimals
    72. Moog U, Dobyns WB. An update on oculocerebrocutaneous (Delleman-Oorthuys) syndrome. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):414-422. PMID: 30580480; PMCID: PMC6501825.
      Citations: 3     Fields:    Translation:Humans
    73. Aldinger KA, Dempsey JC, Tully HM, Grout ME, Mehaffey MG, Dobyns WB, Doherty D. Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet. 2018 12; 178(4):432-439. PMID: 30580482; PMCID: PMC6540982.
      Citations: 7     Fields:    Translation:Humans
    74. Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczaluba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Center for Mendelian Genomics at the Broad Institute of MIT and Harvard, Engle EC, Verheijen FW, Doherty D, Mancini GMS. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021. PMID: 30471716; PMCID: PMC6288423.
      Citations: 26     Fields:    Translation:HumansCells
    75. Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Cowan NJ, Keays DA, Bahi-Buisson N, Valence S, Burglen L, Chelly J. Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. Neuron. 2018 12 19; 100(6):1354-1368.e5. PMID: 30449657; PMCID: PMC6436622.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    76. Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Fregeau B, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Pilz DT, Reinstein E, Santani AB, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ, Blanchet P, Attié-Bitach T, Faivre L, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Petit F, Puechberty J, Rivière JB, Schneider A. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768. PMID: 30388402; PMCID: PMC6218805.
      Citations: 15     Fields:    Translation:HumansAnimals
    77. Amlie-Lefond C, Flanagan J, Kanter J, Dobyns WB. The Genetic Landscape of Cerebral Steno-Occlusive Arteriopathy and Stroke in Sickle Cell Anemia. J Stroke Cerebrovasc Dis. 2018 Nov; 27(11):2897-2904. PMID: 30076115.
      Citations: 2     Fields:    Translation:HumansAnimals
    78. Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG, Kaymakçalan H, Kayserili H, Chelly J. Biallelic loss of human CTNNA2, encoding aN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 08; 50(8):1093-1101. PMID: 30013181; PMCID: PMC6072555.
      Citations: 41     Fields:    Translation:HumansAnimalsCells
    79. Ramos EM, Carecchio M, Lemos R, Ferreira J, Legati A, Sears RL, Hsu SC, Panteghini C, Magistrelli L, Salsano E, Esposito S, Taroni F, Richard AC, Ayrignac X, Maltete D, Wallon D, Frebourg T, Pimentel L, Geschwind DH, Vanakker O, Galasko D, Fogel BL, Innes AM, Ross A, Dobyns WB, Alcantara D, O'Driscoll M, Hannequin D, Campion D, French PFBC study group, Garavaglia B, Coppola G, Tranchant C, Anheim M, Goizet C, Vidailhet M, Oliveira JR, Nicolas G. Primary brain calcification: an international study reporting novel variants and associated phenotypes. Eur J Hum Genet. 2018 10; 26(10):1462-1477. PMID: 29955172; PMCID: PMC6138755.
      Citations: 23     Fields:    Translation:Humans
    80. Curry C, Downer NL, Dixon MP, Berger I, Thomas T, Voss AK, Dobyns W, El-Saafin F, Ye T, Garnier JM, Kolb-Cheynel I, Stierle M, Negroni L, Devys D, Tora L. Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. Hum Mol Genet. 2018 06 15; 27(12):2171-2186. PMID: 29648665; PMCID: PMC5985725.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    81. Rice GI, Rodero M, van Eyk L, Scalais E, Pauly F, Dobyns W, Uggenti C, Park JW, Hur S, Livingston JH, Crow YJ, Ruaud L, Cabrol C, Piard J, Boucher-Brischoux E, de Noordhout AM, Maré R, Debray FG, Van Maldergem L. Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function. Hum Mutat. 2018 08; 39(8):1076-1080. PMID: 29782060; PMCID: PMC6043383.
      Citations: 4     Fields:    Translation:HumansCells
    82. Liu WA, Chen S, Li Z, Lee CH, Mirzaa G, Dobyns WB, Ross ME, Zhang J, Shi SH. PARD3 dysfunction in conjunction with dynamic HIPPO signaling drives cortical enlargement with massive heterotopia. Genes Dev. 2018 06 01; 32(11-12):763-780. PMID: 29899142; PMCID: PMC6049519.
      Citations: 31     Fields:    Translation:AnimalsCells
    83. Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M, Epi4K Consortium, Epilepsy Phenome/Genome Project, Chelly J. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. PMID: 29738522; PMCID: PMC5965900.
      Citations: 23     Fields:    Translation:Humans
    84. Brock S, Stouffs K, Scalais E, D'Hooghe M, Keymolen K, Guerrini R, Dobyns WB, Di Donato N, Jansen AC. Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. Eur J Hum Genet. 2018 08; 26(8):1132-1142. PMID: 29706637; PMCID: PMC6057922.
      Citations: 13     Fields:    Translation:Humans
    85. Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Zaki MS, University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WB, Rivière JB. Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364. PMID: 29671837; PMCID: PMC6195491.
      Citations: 38     Fields:    Translation:Humans
    86. Berg AT, Chakravorty S, Koh S, Grinspan ZM, Saneto RP, Wirrell EC, Coryell J, Chu CJ, Mytinger JR, Gaillard WD, Valencia I, Knupp KG, Loddenkemper T, Sullivan JE, Poduri A, Millichap JJ, Keator C, Wusthoff C, Ryan N, Dobyns WB, Hegde M, Shellhaas RA. Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. PLoS One. 2018; 13(3):e0193599. PMID: 29518120; PMCID: PMC5843222.
      Citations: 14     Fields:    Translation:Humans
    87. Fry AE, Fawcett KA, Zelnik N, Yuan H, Thompson BAN, Shemer-Meiri L, Cushion TD, Mugalaasi H, Sims D, Stoodley N, Chung SK, Rees MI, Patel CV, Brueton LA, Kerr MP, Banne E, Meiner V, Lerman-Sagie T, Helbig KL, Kofman LH, Knight KM, Chen W, Kannan V, Hu C, Kusumoto H, Zhang J, Swanger SA, Shaulsky GH, Mirzaa GM, Muir AM, Mefford HC, Dobyns WB, Mackenzie AB, Mullins JGL, Lemke JR, Bahi-Buisson N, Traynelis SF, Iago HF, Pilz DT, Layet V, Giuliano F. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain. 2018 03 01; 141(3):698-712. PMID: 29365063; PMCID: PMC5837214.
      Citations: 48     Fields:    Translation:HumansAnimalsCells
    88. Adams Waldorf KM, Nelson BR, Stencel-Baerenwald JE, Studholme C, Kapur RP, Armistead B, Walker CL, Merillat S, Vornhagen J, Tisoncik-Go J, Baldessari A, Coleman M, Dighe MK, Shaw DWW, Roby JA, Santana-Ufret V, Boldenow E, Li J, Gao X, Davis MA, Swanstrom JA, Jensen K, Widman DG, Baric RS, Medwid JT, Hanley KA, Ogle J, Gough GM, Lee W, English C, Durning WM, Thiel J, Gatenby C, Dewey EC, Fairgrieve MR, Hodge RD, Grant RF, Kuller L, Dobyns WB, Hevner RF, Gale M, Rajagopal L. Congenital Zika virus infection as a silent pathology with loss of neurogenic output in the fetal brain. Nat Med. 2018 03; 24(3):368-374. PMID: 29400709; PMCID: PMC5839998.
      Citations: 82     Fields:    Translation:HumansAnimalsCells
    89. Leibovitz Z, Mandel H, Falik-Zaccai TC, Ben Harouch S, Savitzki D, Krajden-Haratz K, Gindes L, Tamarkin M, Lev D, Dobyns WB, Lerman-Sagie T. Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutation. Eur J Paediatr Neurol. 2018 May; 22(3):525-531. PMID: 29337005.
      Citations: 6     Fields:    Translation:Humans
    90. Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH. Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A. 2018 01; 176(1):48-55. PMID: 29171184; PMCID: PMC5844264.
      Citations: 5     Fields:    Translation:Humans
    91. Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM, Sztriha L, Jacquinet A. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct 01; 140(10):2610-2622. PMID: 28969385; PMCID: PMC6080423.
      Citations: 49     Fields:    Translation:HumansCells
    92. De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Dobyns WB, Mazza T, Gleeson JG, Valente EM, Fluss J, Bertini E. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 05; 101(4):552-563. PMID: 28965847; PMCID: PMC5630196.
      Citations: 28     Fields:    Translation:HumansCells
    93. Syrbe S, Harms FL, Parrini E, Montomoli M, Helbig KL, Polster T, van Binsbergen E, Biskup S, Denecke J, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Merkenschlager A, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R, Mütze U, Albrecht B, Bernbeck U, Burglen L, Heron B, Korenke GC, Kuechler A, Lämmer C, Mignot C, Ruf S, Møller RS. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017 Sep 01; 140(9):2322-2336. PMID: 29050398; PMCID: PMC6248409.
      Citations: 33     Fields:    Translation:HumansCells
    94. Berg AT, Coryell J, Saneto RP, Grinspan ZM, Alexander JJ, Kekis M, Sullivan JE, Wirrell EC, Mytinger JR, Gaillard WD, Kossoff EH, Valencia I, Knupp KG, Wusthoff C, Keator C, Dobyns WB, Ryan N, Loddenkemper T, Chu CJ, Novotny EJ, Koh S, Shellhaas RA. Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr. 2017 09 01; 171(9):863-871. PMID: 28759667; PMCID: PMC5710404.
      Citations: 56     Fields:    Translation:Humans
    95. Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, van den Berg D, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 Aug; 13(8):e1006923. PMID: 28763441; PMCID: PMC5538630.
      Citations: 4     Fields:    
    96. Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 06; 101(1):23-36. PMID: 28625504; PMCID: PMC5501774.
      Citations: 36     Fields:    Translation:HumansAnimalsCells
    97. Adam A, Robison J, Lu J, Jose R, Badran N, Vivas-Buitrago T, Rigamonti D, Sattar A, Omoush O, Hammad M, Dawood M, Maghaslah M, Belcher T, Carson K, Hoffberger J, Foley S, Yasar S, Thai QA, Wemmer J, Klinge P, Al-Mutawa L, Al-Ghamdi H, Carson KA, Asgari M, Kurtcuoglu V, Garnotel S, Salmon S, Lokossou A, Page G, Balardy L, Czosnyka Z, Payoux P, Schmidt EA, Zitoun M, Sevestre MA, Alperin N, Baudracco I, Craven C, Matloob S, Thompson S, Haylock Vize P, Thorne L, Watkins LD, Toma AK, Pong AC, Bilston LE, Cheng S, Bradley W, Dasgupta D, Curtis C, Remolina AJ, Grijalba MA, Whitehouse KJ, Edwards RJ, Fountas KN, Kapsalaki EZ, Smisson HF, Robinson JS, Garzon M, Kang M, Sandhu K, Baghawatti D, Aquilina K, James G, Thompson D, Gehlen M, Schmid Daners M, McAllister JP, Guerra MM, Morales DM, Sival D, Limbrick DD, Ishikawa M, Yamada S, Yamamoto K, Junkkari A, Rauramaa T, Sintonen H, Nerg O, Koivisto AM, Roine RP, Soininen H, Luikku A, Leinonen V, Kehler U, Larsson EM, Kojoukhova M, Sutela A, Vanninen R, Vanha KI, Timonen M, Rummukainen J, Korhonen V, Helisalmi S, Solje E, Remes AM, Huovinen J, Paananen J, Hiltunen M, Kurki M, Martin B, Loth F, Luciano M, Luikku AJ, Hall A, Herukka SK, Mattila J, Alafuzoff I, Jurjevic I, Miyajima M, Nakajima M, Murai H, Shin T, Kawaguchi D, Akiba C, Ogino I, Karagiozov K, Arai H, Pulhorn H, Chandran A, McMahon C, Rao AS, Jumaly M, Solomon D, Moghekar A, Relkin N, Hamilton M, Katzen H, Williams M, Bach T, Zuspan S, Holubkov R, Rigamonti A, Clemens G, Sharkey P, Sanyal A, Sankey E, Rigamonti K, Naqvi S, Hung A, Schmidt E, Ory-Magne F, Gantet P, Guenego A, Januel AC, Tall P, Fabre N, Mahieu L, Cognard C, Gray L, Buttner-Ennever JA, Takagi K, Onouchi K, Thompson SD, Thorne LD, Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB, Moran D, Vakili S, Patel MA, Elder B, Goodwin CR, Crawford JA, Pletnikov MV, Xu J, Blitz A, Herzka DA, Guerrero-Cazares H, Mori S, Saavedra P, Maitani K, Ziai WC, Eslami V, Nekoovaght-Tak S, Dlugash R, Yenokyan G, McBee N, Hanley DF, Jusué Torres I, de Zélicourt D, Balédent O, Bechter K, Jugé L, Hakim F, Ramón JF, Cárdenas MF, Davidson JS, García C, González D, Bermúdez S, Useche N, Mejía JA, Mayorga P, Cruz F, Martinez C, Matiz MC, Vallejo M, Ghotme K, Soto HA, Riveros D, Buitrago A, Mora M, Murcia L, Bermudez S, Cohen D, Domínguez L, Eleftheriou A, Lundin F, Fritsch MJ, Arouk W, Eklund A, Malm J, Gomez D, Guerra M, Jara M, Flores M, Vío K, Moreno I, Rodríguez S, Ortega E, Rodríguez EM, Jimenez A, Häyrinen A, Viinamäki H, Jääskeläinen JE, Lilja-Lund O, Kockum K, Riklund K, Söderström L, Hellström P, Laurell K, Lötjönen J, Reis RC, Teixeira MJ, Valêncio CG, da Vigua D, Almeida-Lopes L, Mancini MW, Pinto FCG, Maykot RH, Calia G, Tornai J, Silvestre SSS, Mendes G, Sousa V, Bezerra B, Dutra P, Modesto P, Oliveira MF, Petitto CE, Quiñones-Hinojosa A, Treviño H. Abstracts from Hydrocephalus 2016. Fluids Barriers CNS. 2017 Jun 07; 14(Suppl 1):15. PMID: 28929972; PMCID: PMC5471936.
      Citations: 2     Fields:    
    98. Oegema R, Baillat D, Schot R, van Unen LM, Brooks A, Kia SK, Hoogeboom AJM, Xia Z, Li W, Cesaroni M, Lequin MH, van Slegtenhorst M, Dobyns WB, de Coo IFM, Verheijen FW, Kremer A, van der Spek PJ, Heijsman D, Wagner EJ, Fornerod M, Mancini GMS. Human mutations in integrator complex subunits link transcriptome integrity to brain development. PLoS Genet. 2017 May; 13(5):e1006809. PMID: 28542170; PMCID: PMC5466333.
      Citations: 45     Fields:    Translation:HumansCells
    99. Di Donato N, Chiari S, Mirzaa GM, Aldinger K, Parrini E, Olds C, Barkovich AJ, Guerrini R, Dobyns WB. Lissencephaly: Expanded imaging and clinical classification. Am J Med Genet A. 2017 Jun; 173(6):1473-1488. PMID: 28440899; PMCID: PMC5526446.
      Citations: 43     Fields:    Translation:Humans
    100. Platzer K, Yuan H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Frengen E, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR, Schütz H, Depienne C, Keren B, Mignot C, Strømme P, Biskup S, Döcker D, Strom TM, Bok LA, Møller RS, Major P, Lehesjoki AE, Courage C. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017 07; 54(7):460-470. PMID: 28377535; PMCID: PMC5656050.
      Citations: 96     Fields:    Translation:Humans
    101. Moore CA, Staples JE, Dobyns WB, Ventura LO, Arena JF, Rasmussen SA, Pessoa A, Ventura CV, Fonseca EB, Ribeiro EM, Neto NN. Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians. JAMA Pediatr. 2017 03 01; 171(3):288-295. PMID: 27812690; PMCID: PMC5561417.
      Citations: 371     Fields:    Translation:HumansCells
    102. Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG, Çaglayan AO, Nassogne MC. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet. 2017 Mar; 49(3):457-464. PMID: 28092684; PMCID: PMC5325768.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    103. Haldipur P, Dang D, Aldinger KA, Janson OK, Dobyns WB, Siebert JR, Russo R, Millen KJ, Guimiot F, Adle-Biasette H. Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms. Elife. 2017 01 16; 6. PMID: 28092268; PMCID: PMC5271606.
      Citations: 20     Fields:    Translation:HumansAnimals
    104. Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD. Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology. 2017 Feb 14; 88(7):623-629. PMID: 28087826; PMCID: PMC5317381.
      Citations: 6     Fields:    Translation:HumansCTClinical Trials
    105. van der Linden V, Dobyns W, Barkovich AJ, Filho EL, Ribeiro EM, Leal MC, Ventura C, Ramos RC, Cruz DD, Mota VM, Dott M, Hillard C, Moore CA, Pessoa A, Júnior HV, Coimbra PP, Aragão MF, Verçosa I, Cordeiro MT. Description of 13 Infants Born During October 2015-January 2016 With Congenital Zika Virus Infection Without Microcephaly at Birth - Brazil. MMWR Morb Mortal Wkly Rep. 2016 Dec 02; 65(47):1343-1348. PMID: 27906905.
      Citations: 175     Fields:    Translation:HumansCells
    106. Leto K, Arancillo M, Becker EB, Buffo A, Chiang C, Ding B, Dobyns WB, Haldipur P, Hatten ME, Hoshino M, Joyner AL, Kano M, Kilpatrick DL, Koibuchi N, Marino S, Martinez S, Millen KJ, Millner TO, Miyata T, Parmigiani E, Sillitoe RV, Uesaka N, Wefers A, Wingate RJ, Hawkes R, Dusart I, Schilling K, Sekerková G, Sotelo C. Consensus Paper: Cerebellar Development. Cerebellum. 2016 12; 15(6):789-828. PMID: 26439486; PMCID: PMC4846577.
      Citations: 183     Fields:    Translation:HumansAnimalsCells
    107. Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Iodice A, Iughetti L, Maggi M, Malbora B, Mammi I, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Toutain A, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR, Grønborg S, Lacombe D, Moutton S, Møller R, Tone LG, Trimouille A, Valera ET. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700. PMID: 27831545; PMCID: PMC5438871.
      Citations: 26     Fields:    Translation:Humans
    108. Tully HM, Wenger TL, Kukull WA, Doherty D, Dobyns WB. Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage. Neurosurg Focus. 2016 Nov; 41(5):E5. PMID: 27798978; PMCID: PMC5510987.
      Citations: 5     Fields:    Translation:Humans
    109. Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. Am J Hum Genet. 2016 Nov 03; 99(5):1117-1129. PMID: 27773430; PMCID: PMC5097945.
      Citations: 28     Fields:    Translation:HumansAnimalsCells
    110. Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC. Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. Am J Med Genet A. 2017 Jan; 173(1):245-249. PMID: 27734605; PMCID: PMC5999866.
      Citations: 5     Fields:    Translation:HumansCells
    111. Gobius I, Morcom L, Bunt J, Bukshpun P, Reardon W, Dobyns WB, Rubenstein JL, Barkovich AJ, Sherr EH, Richards LJ, Suárez R. Astroglial-Mediated Remodeling of the Interhemispheric Midline Is Required for the Formation of the Corpus Callosum. Cell Rep. 2016 10 11; 17(3):735-747. PMID: 27732850; PMCID: PMC5094913.
      Citations: 26     Fields:    Translation:HumansAnimalsCells
    112. Ravenscroft G, Davis MR, Craven PD, Poke G, Neas KR, Neuhann TM, Dobyns WB, Laing NG, Di Donato N, Hahn G. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromuscul Disord. 2016 11; 26(11):744-748. PMID: 27751653.
      Citations: 18     Fields:    Translation:Humans
    113. Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR. Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. J Pediatr. 2016 Nov; 178:233-240.e10. PMID: 27640358; PMCID: PMC5873956.
      Citations: 13     Fields:    Translation:Humans
    114. Adams Waldorf KM, Stencel-Baerenwald JE, Kapur RP, Studholme C, Boldenow E, Vornhagen J, Baldessari A, Dighe MK, Thiel J, Merillat S, Armistead B, Tisoncik-Go J, Green RR, Davis MA, Dewey EC, Fairgrieve MR, Gatenby JC, Richards T, Garden GA, Diamond MS, Juul SE, Grant RF, Kuller L, Shaw DW, Ogle J, Gough GM, Lee W, English C, Hevner RF, Dobyns WB, Gale M, Rajagopal L. Fetal brain lesions after subcutaneous inoculation of Zika virus in a pregnant nonhuman primate. Nat Med. 2016 11; 22(11):1256-1259. PMID: 27618651; PMCID: PMC5365281.
      Citations: 167     Fields:    Translation:AnimalsCells
    115. Parrini E, Conti V, Dobyns WB, Guerrini R. Genetic Basis of Brain Malformations. Mol Syndromol. 2016 Sep; 7(4):220-233. PMID: 27781032; PMCID: PMC5073505.
      Citations: 82     
    116. Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA, Kawasaki H, Feldstein NA, Dobyns WB, Northrup H, Hauck SM, Mahajan VB, Tsang SH, Ueffing M. Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors. Hum Mol Genet. 2016 10 01; 25(19):4201-4210. PMID: 27516388; PMCID: PMC5291196.
      Citations: 7     Fields:    Translation:HumansCells
    117. Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845. PMID: 27159400; PMCID: PMC4979321.
      Citations: 108     Fields:    Translation:HumansAnimalsCells
    118. Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Shendure J, Graham J, Guerrini R, Dobyns WB, Krägeloh-Mann I, Addor MC, Aracena M, Kayserilli H. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 06 16; 1(9). PMID: 27631024; PMCID: PMC5019182.
      Citations: 69     Fields:    Translation:Humans
    119. Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Am J Med Genet A. 2016 09; 170(9):2237-47. PMID: 27264673; PMCID: PMC5134331.
      Citations: 50     Fields:    Translation:Humans
    120. Di Donato N, Vergano S, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WB, Kuechler A, Heinritz W, Altmüller J, Bögershausen N. Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016 10; 170(10):2644-51. PMID: 27240540.
      Citations: 12     Fields:    Translation:Humans
    121. Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM, Horn D. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265. PMID: 27236920; PMCID: PMC4908219.
      Citations: 40     Fields:    Translation:HumansCells
    122. Bennett JT, Tan TY, Alcantara D, Timms AE, Jensen D, Collins S, Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ, University of Washington Center for Mendelian Genomics, Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM, Tétrault M. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 03; 98(3):579-587. PMID: 26942290; PMCID: PMC4800051.
      Citations: 30     Fields:    Translation:HumansCells
    123. Di Donato N, Neuhann T, Kahlert AK, Klink B, Hackmann K, Neuhann I, Novotna B, Schallner J, Krause C, Glass IA, Parnell SE, Benet-Pages A, Nissen AM, Berger W, Thiele H, Weber BH, Schrock E, Dobyns WB, Rump A, Altmüller J, Bier A. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. J Med Genet. 2016 06; 53(6):419-25. PMID: 26843489.
      Citations: 42     Fields:    Translation:Humans
    124. Cohen AS, Yap DB, Lewis ME, Chijiwa C, Ramos-Arroyo MA, McKinnon ML, Townsend KN, Xu J, Van Allen MI, Ross CJ, Dobyns WB, Weaver DD, Gibson WT, Tkachenko N, Milano V, Fradin M. Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro. Hum Mutat. 2016 Mar; 37(3):301-7. PMID: 26694085; PMCID: PMC4832389.
      Citations: 33     Fields:    Translation:Humans
    125. Berg AT, Dobyns WB. Progress in autism research and postgenomic studies - Authors' reply. Lancet Neurol. 2016 02; 15(2):136-137. PMID: 28463119.
      Citations:    Fields:    Translation:Humans
    126. Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. J Med Genet. 2016 06; 53(6):427-30. PMID: 26671912; PMCID: PMC4898782.
      Citations: 23     Fields:    Translation:Humans
    127. Di Donato N, Rump A, Mirzaa GM, Alcantara D, Oliver A, Schrock E, Dobyns WB, O'Driscoll M. Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum". Hum Mutat. 2016 Mar; 37(3):242-5. PMID: 26593112; PMCID: PMC4752430.
      Citations: 6     Fields:    Translation:Humans
    128. Roy A, Skibo J, Kalume F, Ni J, Rankin S, Lu Y, Dobyns WB, Mills GB, Zhao JJ, Baker SJ, Millen KJ. Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy. Elife. 2015 Dec 03; 4. PMID: 26633882; PMCID: PMC4744197.
      Citations: 46     Fields:    Translation:HumansAnimals
    129. Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Goel H, Gregersen PA, Gripp KW, Grix A, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Shears DJ, Silver J, Smith AC, Temple IK, UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R, Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA, Favaro FP, Guion-Almeida ML, López-González V, Schönewolf-Greulich B. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-54. PMID: 26507355; PMCID: PMC5512564.
      Citations: 20     Fields:    Translation:HumansCells
    130. Mirzaa GM, Collins S, Dobyns WB. Corrigendum to "Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature. Am J Med Genet Part A 2014 164A:2879-86". Am J Med Genet A. 2016 02; 170(2):547. PMID: 26566857.
      Citations: 1     Fields:    
    131. Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Dobyns WB, Guerrini R, Deleuze JF, Nitschké P, Chelly J. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95. PMID: 26520804; PMCID: PMC4672724.
      Citations: 30     Fields:    Translation:Humans
    132. McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. Am J Med Genet A. 2015 Dec; 167A(12):3096-102. PMID: 26364767; PMCID: PMC4715619.
      Citations: 11     Fields:    Translation:Humans
    133. Tully HM, Ishak GE, Rue TC, Dempsey JC, Browd SR, Millen KJ, Doherty D, Dobyns WB. Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences. J Child Neurol. 2016 Mar; 31(3):309-20. PMID: 26184484; PMCID: PMC4990005.
      Citations: 8     Fields:    Translation:Humans
    134. Oegema R, Cushion TD, Phelps IG, Chung SK, Dempsey JC, Collins S, Mullins JG, Dudding T, Gill H, Green AJ, Dobyns WB, Ishak GE, Rees MI, Doherty D. Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes. Hum Mol Genet. 2015 Sep 15; 24(18):5313-25. PMID: 26130693; PMCID: PMC4550818.
      Citations: 47     Fields:    Translation:HumansCells
    135. Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, Silhavy JL, Rosti RO, Schroth J, Mazza T, Miccinilli E, Zaki MS, Swoboda KJ, Milisa-Drautz J, Dobyns WB, Mikati MA, Incecik F, Azam M, Borgatti R, Romaniello R, Boustany RM, Clericuzio CL, D'Arrigo S, Boltshauser E, Stanzial F, Mirabelli-Badenier M, Moroni I, Steinlin M, Hildebrandt F, Johnson CA, Freilinger M, Vaux KK, Gabriel SB, Aza-Blanc P, Heynen-Genel S, Ideker T, Dynlacht BD, Lee JE, Valente EM, Kim J, Gleeson JG, Strømme P, Bertini E, Emma F. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015 May 30; 4:e06602. PMID: 26026149; PMCID: PMC4477441.
      Citations: 45     Fields:    Translation:Humans
    136. Barkovich AJ, Dobyns WB, Guerrini R. Malformations of cortical development and epilepsy. Cold Spring Harb Perspect Med. 2015 May 01; 5(5):a022392. PMID: 25934463; PMCID: PMC4448581.
      Citations: 55     Fields:    Translation:Humans
    137. Roth CL, Eslamy H, Werny D, Elfers C, Shaffer ML, Pihoker C, Ojemann J, Dobyns WB. Semiquantitative analysis of hypothalamic damage on MRI predicts risk for hypothalamic obesity. Obesity (Silver Spring). 2015 Jun; 23(6):1226-33. PMID: 25884561; PMCID: PMC5029599.
      Citations: 35     Fields:    Translation:Humans
    138. Berg AT, Dobyns WB. Progress in autism and related disorders of brain development. Lancet Neurol. 2015 Nov; 14(11):1069-70. PMID: 25891008.
      Citations: 3     Fields:    Translation:Humans
    139. Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR, Shinawi M. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 02; 96(4):682-90. PMID: 25839329; PMCID: PMC4385182.
      Citations: 29     Fields:    Translation:HumansCells
    140. Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Ojemann JG, Shendure J, Hevner RF, Dobyns WB, Rivière JB, St-Onge J. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain. 2015 Jun; 138(Pt 6):1613-28. PMID: 25722288; PMCID: PMC4614119.
      Citations: 145     Fields:    Translation:HumansCells
    141. Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R, Bovée JV. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr. 2015 Apr; 166(4):1048-54.e1-5. PMID: 25681199; PMCID: PMC4498659.
      Citations: 171     Fields:    Translation:Humans
    142. Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 2015 Mar; 56(3):422-30. PMID: 25656163; PMCID: PMC4363281.
      Citations: 60     Fields:    Translation:HumansCells
    143. Mishra-Gorur K, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Nishimura S, Han W, Tu S, Dilber C, Zaki MS, Hossni HAA, Spencer EG, Schroth J, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Louvi A, Yasuno K, Gleeson JG, Çaglayan AO, Akgümüs GT, Baran B, Gümüs H, Rivière JB, Kayserili H, Rosti RÖ, Per H, Çaglar C, Çaglar Ç, Dölen D, Šestan N, Bilgüvar K, Günel M. Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors. Neuron. 2015 Jan 07; 85(1):228. PMID: 29654772.
      Citations: 4     Fields:    
    144. Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015 Feb; 167A(2):287-95. PMID: 25557259; PMCID: PMC4480633.
      Citations: 166     Fields:    Translation:Humans
    145. Mishra-Gorur K, Chabu C, Henegariu O, Vonhoff F, Nishimura S, Han W, Tu S, Zaki MS, Hossni HA, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Louvi A, Yasuno K, Çaglayan AO, Schaffer AE, Akgümüs GT, Baran B, Gümüs H, Dilber C, Rivière JB, Kayserili H, Spencer EG, Rosti RÖ, Schroth J, Per H, Çaglar C, Çaglar Ç, Dölen D, Šestan N, Bilgüvar K, Gleeson JG, Günel M. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron. 2014 Dec 17; 84(6):1226-39. PMID: 25521378; PMCID: PMC5024344.
      Citations: 50     Fields:    Translation:HumansAnimalsCells
    146. Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214. PMID: 25259927; PMCID: PMC4298142.
      Citations: 199     Fields:    Translation:HumansAnimalsCells
    147. De Ciantis A, Barkovich AJ, Cosottini M, Barba C, Costagli M, Tosetti M, Biagi L, Dobyns WB, Guerrini R, Montanaro D. Ultra-high-field MR imaging in polymicrogyria and epilepsy. AJNR Am J Neuroradiol. 2015 Feb; 36(2):309-16. PMID: 25258368; PMCID: PMC5548091.
      Citations: 27     Fields:    Translation:Humans
    148. French CR, Seshadri S, Destefano AL, Fornage M, Arnold CR, Gage PJ, Skarie JM, Dobyns WB, Millen KJ, Liu T, Dietz W, Kume T, Hofker M, Emery DJ, Childs SJ, Waskiewicz AJ, Lehmann OJ. Mutation of FOXC1 and PITX2 induces cerebral small-vessel disease. J Clin Invest. 2014 Nov; 124(11):4877-81. PMID: 25250569; PMCID: PMC4347243.
      Citations: 54     Fields:    Translation:HumansAnimalsCells
    149. Kakar N, Ahmad J, Morris-Rosendahl DJ, Friedrich K, Barbi G, Kubisch C, Dobyns WB, Borck G, Altmüller J, Nürnberg P. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum Genet. 2015 Jan; 134(1):45-51. PMID: 25218063.
      Citations: 12     Fields:    Translation:Humans
    150. Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S. Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. Am J Med Genet A. 2014 Nov; 164A(11):2879-86. PMID: 25115524; PMCID: PMC4205200.
      Citations: 20     Fields:    Translation:Humans
    151. Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Allanson J, Brunner H, Devriendt K, Faravelli F, Juncos J, Kempers M, Lin A, Mancini G, Siu VM, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Pierpont ME, Procaccio V, Rusu C, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Dobyns WB, Pilz DT, Verloes A, Albrecht B, Bertola D, Chassaing N, David A, Eftekhari P, Drouin-Garraud V, Faivre L, Giuliano F, Guion Almeida L, Eker HK, Lacombe D, Melis D, Lourenço CM, Morin G, Philip N, Roseli ZS, Rossi M, Sznajer Y, Templin L, Drunat S, Rivière JB. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar; 23(3):292-301. PMID: 25052316; PMCID: PMC4326722.
      Citations: 48     Fields:    Translation:Humans
    152. Tully HM, Dobyns WB. Infantile hydrocephalus: a review of epidemiology, classification and causes. Eur J Med Genet. 2014 Aug; 57(8):359-68. PMID: 24932902; PMCID: PMC4334358.
      Citations: 112     Fields:    Translation:HumansAnimals
    153. Guerrini R, Dobyns WB. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol. 2014 Jul; 13(7):710-26. PMID: 24932993; PMCID: PMC5548104.
      Citations: 164     Fields:    Translation:HumansAnimals
    154. Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR. Epilepsy and outcome in FOXG1-related disorders. Epilepsia. 2014 Aug; 55(8):1292-300. PMID: 24836831; PMCID: PMC4265461.
      Citations: 29     Fields:    Translation:Humans
    155. Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum Genet. 2014 Aug; 133(8):1023-39. PMID: 24748105; PMCID: PMC4415612.
      Citations: 48     Fields:    Translation:HumansCells
    156. Mirzaa G, Parry DA, Fry AE, Giamanco KA, Schwartzentruber J, Vanstone M, Logan CV, Roberts N, Johnson CA, Singh S, Kholmanskikh SS, Adams C, Hodge RD, Hevner RF, Bonthron DT, Braun KPJ, Gripp KW, Mancini GM, Pang K, Sweeney E, van Esch H, Verbeek N, Wieczorek D, Steinraths M, Majewski J, FORGE Canada Consortium, Boycot KM, Pilz DT, Ross ME, Dobyns WB, Sheridan EG, Faivre L, Rivière JB, St-Onge J. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May; 46(5):510-515. PMID: 24705253; PMCID: PMC4004933.
      Citations: 70     Fields:    Translation:HumansAnimalsCells
    157. Cushion TD, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Chung SK, Rees MI, Paciorkowski AR, Tuttle E, Ghoneim D, Christian SL, Dobyns WB. De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 03; 94(4):634-41. PMID: 24702957; PMCID: PMC3980418.
      Citations: 49     Fields:    Translation:HumansCells
    158. Mirzaa GM, Millen KJ, Barkovich AJ, Dobyns WB, Paciorkowski AR. The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications. Am J Med Genet A. 2014 Jun; 164A(6):1503-11. PMID: 24700709; PMCID: PMC4279915.
      Citations: 9     Fields:    Translation:Humans
    159. Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. Am J Med Genet A. 2014 Jan; 164A(1):120-8. PMID: 24259342; PMCID: PMC4443488.
      Citations: 18     Fields:    Translation:Humans
    160. Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH, Rivière JB. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet. 2013; 9(10):e1003823. PMID: 24098143; PMCID: PMC3789824.
      Citations: 29     Fields:    Translation:Humans
    161. Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Striano P, Mei D, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R, Michel FJ, Watrin F. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov; 136(Pt 11):3378-94. PMID: 24056535.
      Citations: 39     Fields:    Translation:HumansAnimalsCells
    162. Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. Eur J Hum Genet. 2014 May; 22(5):587-93. PMID: 24045845; PMCID: PMC3992559.
      Citations: 15     Fields:    Translation:HumansCells
    163. Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM, Weiss A, Phillips JO, Doherty D. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Mov Disord. 2013 Dec; 28(14):2019-23. PMID: 24105968; PMCID: PMC5510988.
      Citations: 7     Fields:    Translation:Humans
    164. Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. Am J Med Genet A. 2013 Oct; 161A(10):2420-30. PMID: 23918763; PMCID: PMC3787995.
      Citations: 24     Fields:    Translation:Humans
    165. Shiba N, Daza RA, Shaffer LG, Barkovich AJ, Dobyns WB, Hevner RF. Neuropathology of brain and spinal malformations in a case of monosomy 1p36. Acta Neuropathol Commun. 2013 Aug 02; 1:45. PMID: 24252393; PMCID: PMC3893467.
      Citations: 10     Fields:    Translation:HumansCells
    166. Swarr DT, Khalek N, Treat J, Horton MA, Mirzaa GM, Riviere JB, Dobyns WB, Zackai EH. Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome. Prenat Diagn. 2013 Oct; 33(10):1010-2. PMID: 23754335; PMCID: PMC3962827.
      Citations: 4     Fields:    Translation:Humans
    167. Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A. 2013 Aug; 161A(8):1833-52. PMID: 23813913; PMCID: PMC5517092.
      Citations: 29     Fields:    Translation:HumansCells
    168. Mirzaa GM, Dobyns WB. The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome. Am J Med Genet A. 2013 Aug; 161A(8):2115-6. PMID: 23798482.
      Citations: 4     Fields:    Translation:Humans
    169. Ledbetter DH, Dobyns WB, Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Villard L. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014 Mar; 22(3):363-8. PMID: 23756445; PMCID: PMC3925263.
      Citations: 21     Fields:    Translation:HumansCells
    170. Woodbine L, Neal JA, Sasi NK, Shimada M, Deem K, Coleman H, Dobyns WB, Ogi T, Meek K, Davies EG, Jeggo PA. PRKDC mutations in a SCID patient with profound neurological abnormalities. J Clin Invest. 2013 Jul; 123(7):2969-80. PMID: 23722905; PMCID: PMC3999051.
      Citations: 69     Fields:    Translation:HumansCells
    171. Darbro BW, Mahajan VB, Gakhar L, Skeie JM, Campbell E, Wu S, Bing X, Millen KJ, Dobyns WB, Kessler JA, Jalali A, Cremer J, Segre A, Manak JR, Aldinger KA, Suzuki S, Natsume N, Ono M, Hai HD, Viet le T, Loddo S, Valente EM, Bernardini L, Ghonge N, Ferguson PJ, Bassuk AG. Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles. Hum Mutat. 2013 Aug; 34(8):1075-9. PMID: 23674478; PMCID: PMC3714376.
      Citations: 17     Fields:    Translation:HumansCells
    172. Paciorkowski AR, Keppler-Noreuil K, Robinson L, Sullivan C, Sajan S, Christian SL, Bukshpun P, Gabriel SB, Gleeson JG, Sherr EH, Dobyns WB. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. 2013 Jul; 161A(7):1523-30. PMID: 23704059; PMCID: PMC3689850.
      Citations: 28     Fields:    Translation:HumansCells
    173. Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77. PMID: 23583054; PMCID: PMC3742321.
      Citations: 16     Fields:    Translation:Humans
    174. Mirzaa GM, Dobyns WB, Rivière JB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet. 2013 May; 163C(2):122-30. PMID: 23592320.
      Citations: 65     Fields:    Translation:Humans
    175. McDonell LM, Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, FORGE Canada Consortium, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May; 45(5):556-62. PMID: 23542699; PMCID: PMC4000253.
      Citations: 41     Fields:    Translation:Humans
    176. Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74. PMID: 23472759; PMCID: PMC3591846.
      Citations: 44     Fields:    Translation:HumansCells
    177. Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, UK10K Consortium, Stemple D, Lin YY, Muntoni F. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 07; 92(3):354-65. PMID: 23453667; PMCID: PMC3591840.
      Citations: 76     Fields:    Translation:HumansAnimalsCells
    178. Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111. PMID: 23389741; PMCID: PMC3773516.
      Citations: 49     Fields:    Translation:HumansAnimalsCells
    179. Cushion TD, Dobyns WB, Mullins JG, Stoodley N, Chung SK, Fry AE, Hehr U, Gunny R, Aylsworth AS, Prabhakar P, Rankin J, Rees MI, Pilz DT, Uyanik G. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain. 2013 Feb; 136(Pt 2):536-48. PMID: 23361065.
      Citations: 59     Fields:    Translation:HumansCells
    180. Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. Am J Med Genet A. 2013 Feb; 161A(2):320-6. PMID: 23292994.
      Citations: 7     Fields:    Translation:Humans
    181. Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. Am J Med Genet A. 2013 Jan; 161A(1):131-6. PMID: 23225497; PMCID: PMC3733662.
      Citations: 31     Fields:    Translation:HumansCells
    182. Sullivan CT, Christian SL, Shieh JT, Metry D, Blei F, Krol A, Drolet BA, Frieden IJ, Dobyns WB, Siegel DH. X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome. Mol Syndromol. 2013 Mar; 4(3):114-8. PMID: 23653582; PMCID: PMC3638925.
      Citations: 7     
    183. Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-684. PMID: 23096700; PMCID: PMC3971866.
      Citations: 10     Fields:    Translation:HumansCells
    184. Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ, Rieß A, Linné M. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Hum Mutat. 2013 Jan; 34(1):237-47. PMID: 23033313; PMCID: PMC5497464.
      Citations: 20     Fields:    Translation:HumansCells
    185. Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. PMID: 23023333; PMCID: PMC3567443.
      Citations: 53     Fields:    Translation:HumansAnimalsCells
    186. Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct; 158A(10):2393-406. PMID: 22965664; PMCID: PMC3448816.
      Citations: 7     Fields:    Translation:Humans
    187. Kheradmand Kia S, Verbeek E, Engelen E, Schot R, Poot RA, de Coo IF, Lequin MH, Poulton CJ, Pourfarzad F, Grosveld FG, de Wit MC, Oegema R, Dobyns WB, Verheijen FW, Mancini GM, Brehm A. RTTN mutations link primary cilia function to organization of the human cerebral cortex. Am J Hum Genet. 2012 Sep 07; 91(3):533-40. PMID: 22939636; PMCID: PMC3511998.
      Citations: 34     Fields:    Translation:HumansCells
    188. Traylor RN, Dobyns WB, Rosenfeld JA, Wheeler P, Spence JE, Bandholz AM, Bawle EV, Carmany EP, Powell CM, Hudson B, Schultz RA, Shaffer LG, Ballif BC. Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions. Mol Syndromol. 2012 Sep; 3(3):102-112. PMID: 23112752; PMCID: PMC3473348.
      Citations: 16     
    189. Barkovich AJ, Leventer RJ, Squier W, Scheffer IE, Parrini E, Blaser S, Marini C, Robertson S, Tortorella G, Rosenow F, Thomas P, McGillivray G, Andermann E, Andermann F, Berkovic SF, Dobyns WB, Guerrini R, Pisano T. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis. Neurology. 2012 Sep 18; 79(12):1244-51. PMID: 22914838; PMCID: PMC3440449.
      Citations: 14     Fields:    Translation:Humans
    190. Zaki MS, Saleem SN, Dobyns WB, Barkovich AJ, Bartsch H, Dale AM, Ashtari M, Akizu N, Gleeson JG, Grijalvo-Perez AM. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation. Brain. 2012 Aug; 135(Pt 8):2416-27. PMID: 22822038; PMCID: PMC3407423.
      Citations: 11     Fields:    Translation:Humans
    191. Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, Albrecht B, Armour CM, Armstrong L, Caluseriu O, Cytrynbaum C, Drolet BA, Innes AM, Lauzon JL, Lin AE, Mancini GM, Meschino WS, Reggin JD, Saggar AK, Lerman-Sagie T, Weksberg R, Zirn B, Beaulieu CL, Finding of Rare Disease Genes (FORGE) Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Shendure J, Graham JM, Boycott KM, Dobyns WB, Rivière JB, Uyanik G. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24; 44(8):934-40. PMID: 22729224; PMCID: PMC3408813.
      Citations: 308     Fields:    Translation:Humans
    192. Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May; 44(5):575-80. PMID: 22522420; PMCID: PMC3371168.
      Citations: 114     Fields:    Translation:HumansCells
    193. Ishak GE, Dempsey JC, Shaw DW, Tully H, Adam MP, Sanchez-Lara PA, Glass I, Rue TC, Millen KJ, Dobyns WB, Doherty D. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain. 2012 May; 135(Pt 5):1370-86. PMID: 22451504; PMCID: PMC3338925.
      Citations: 33     Fields:    Translation:Humans
    194. Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB. A developmental and genetic classification for malformations of cortical development: update 2012. Brain. 2012 May; 135(Pt 5):1348-69. PMID: 22427329; PMCID: PMC3338922.
      Citations: 347     Fields:    Translation:Humans
    195. van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB, Rivière JB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26; 44(4):440-4, S1-2. PMID: 22366783; PMCID: PMC3677859.
      Citations: 117     Fields:    Translation:HumansCells
    196. Mirzaa GM, Conway RL, Gripp KW, Lerman-Sagie T, Siegel DH, deVries LS, Lev D, Kramer N, Hopkins E, Graham JM, Dobyns WB. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb; 158A(2):269-91. PMID: 22228622.
      Citations: 70     Fields:    Translation:Humans
    197. Paciorkowski AR, Thio LL, Dobyns WB. Genetic and biologic classification of infantile spasms. Pediatr Neurol. 2011 Dec; 45(6):355-67. PMID: 22114996; PMCID: PMC3397192.
      Citations: 64     Fields:    Translation:Humans
    198. Zaki MS, Salam GM, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet A. 2011 Dec; 155A(12):3035-41. PMID: 22002884; PMCID: PMC3415795.
      Citations: 3     Fields:    Translation:Humans
    199. Moog U, Kutsche K, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Kortüm F, Rettenberger G, Schlüter G, Uyanik G. Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51. PMID: 21954287.
      Citations: 55     Fields:    Translation:HumansCells
    200. Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. 2011 Oct; 155A(10):2516-20. PMID: 21910224; PMCID: PMC3183328.
      Citations: 30     Fields:    Translation:Humans
    201. Mirzaa GM, Paciorkowski AR, Smyser CD, Willing MC, Lind AC, Dobyns WB. The microcephaly-capillary malformation syndrome. Am J Med Genet A. 2011 Sep; 155A(9):2080-7. PMID: 21815250; PMCID: PMC3428374.
      Citations: 9     Fields:    Translation:Humans
    202. Osbun N, Li J, O'Driscoll MC, Strominger Z, Wakahiro M, Rider E, Bukshpun P, Boland E, Spurrell CH, Schackwitz W, Pennacchio LA, Dobyns WB, Black GC, Sherr EH. Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A. 2011 Aug; 155A(8):1865-76. PMID: 21739582; PMCID: PMC5544936.
      Citations: 20     Fields:    Translation:HumansAnimalsCells
    203. Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet. 2011 Dec; 19(12):1238-45. PMID: 21694734; PMCID: PMC3230360.
      Citations: 33     Fields:    Translation:HumansCells
    204. Judkins AR, Martinez D, Ferreira P, Dobyns WB, Golden JA. Polymicrogyria includes fusion of the molecular layer and decreased neuronal populations but normal cortical laminar organization. J Neuropathol Exp Neurol. 2011 Jun; 70(6):438-43. PMID: 21572338; PMCID: PMC3113653.
      Citations: 22     Fields:    Translation:HumansCells
    205. Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011 May; 7(5):e1002062. PMID: 21625620; PMCID: PMC3098190.
      Citations: 59     Fields:    Translation:HumansAnimalsCells
    206. Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Bond FF, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Maher ER, Barr FA, Aligianis IA, Müller F. Loss-of-function mutations in RAB18 cause Warburg micro syndrome. Am J Hum Genet. 2011 Apr 08; 88(4):499-507. PMID: 21473985; PMCID: PMC3071920.
      Citations: 81     Fields:    Translation:HumansCells
    207. Barga R, Howe B, Beck D, Bowers S, Dobyns W, Haynes W, Higdon R, Howard C, Roth C, Stewart E, Welch D, Kolker E. Bioinformatics and data-intensive scientific discovery in the beginning of the 21st century. OMICS. 2011 Apr; 15(4):199-201. PMID: 21476840.
      Citations: 6     Fields:    
    208. Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Kutsche K, Dobyns WB, Kortüm F, Uyanik G. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406. PMID: 21441262; PMCID: PMC5522617.
      Citations: 100     Fields:    Translation:HumansCells
    209. Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R. Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. Am J Med Genet A. 2011 Apr; 155A(4):892-7. PMID: 21416597.
      Citations: 5     Fields:    Translation:HumansCells
    210. Gripp KW, Hopkins E, Sol-Church K, Stabley DL, Axelrad ME, Doyle D, Dobyns WB, Hudson C, Johnson J, Tenconi R, Graham GE, Sousa AB, Heller R, Piccione M, Corsello G, Herman GE, Tartaglia M, Lin AE. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C. Am J Med Genet A. 2011 Apr; 155A(4):706-16. PMID: 21438134; PMCID: PMC4166651.
      Citations: 27     Fields:    Translation:Humans
    211. Hanna RM, Marsh SE, Swistun D, Al-Gazali L, Zaki MS, Abdel-Salam GM, Al-Tawari A, Bastaki L, Kayserili H, Rajab A, Dietrich RB, Dobyns WB, Truwit CL, Sattar S, Chuang NA, Sherr EH, Gleeson JG, Boglárka B. Distinguishing 3 classes of corpus callosal abnormalities in consanguineous families. Neurology. 2011 Jan 25; 76(4):373-82. PMID: 21263138; PMCID: PMC3034417.
      Citations: 16     Fields:    Translation:Humans
    212. Basel-Vanagaite L, Raas-Rotchild A, Kornreich L, Har-Zahav A, Yeshaya J, Latarowski V, Lerer I, Dobyns WB, Shohat M. Familial hydrocephalus with normal cognition and distinctive radiological features. Am J Med Genet A. 2010 Nov; 152A(11):2743-8. PMID: 20979187.
      Citations: 2     Fields:    Translation:Humans
    213. Reese J, Aldinger KA, Dobyns WB, Gripp KW. X-linked hereditary hemihypotrophy hemiparesis hemiathetosis. Am J Med Genet A. 2010 Nov; 152A(11):2727-30. PMID: 20949603.
      Citations:    Fields:    Translation:Humans
    214. Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, De Meirleir L, King M, Graham JM, von Moers A, Knoers N, Sztriha L, Korinthenberg R, PCH Consortium, Dobyns WB, Baas F, Poll-The BT, Bernert G, Krägeloh-Mann I. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011 Jan; 134(Pt 1):143-56. PMID: 20952379; PMCID: PMC9136852.
      Citations: 84     Fields:    Translation:Humans
    215. Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, Elpeleg O. Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex. Am J Hum Genet. 2010 Nov 12; 87(5):667-70. PMID: 20950787; PMCID: PMC2978946.
      Citations: 32     Fields:    Translation:HumansCells
    216. Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA, Topçu M. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20. PMID: 20890278; PMCID: PMC2969850.
      Citations: 156     Fields:    Translation:HumansCells
    217. Nicholas AK, Khurshid M, Cox JJ, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson JP, Lindsay S, Gergely F, Dobyns WB, Roberts E, Abramowicz M, Woods CG, Désir J, Carvalho OP. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet. 2010 Nov; 42(11):1010-4. PMID: 20890279; PMCID: PMC5605390.
      Citations: 155     Fields:    Translation:HumansAnimalsCells
    218. Oegema R, de Klein A, Verkerk AJ, Schot R, Dumee B, Douben H, Eussen B, Dubbel L, Poddighe PJ, van der Laar I, Dobyns WB, van der Spek PJ, Lequin MH, de Coo IF, de Wit MC, Wessels MW, Mancini GM. Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A. Mol Syndromol. 2010 Sep; 1(3):113-120. PMID: 21031080; PMCID: PMC2957846.
      Citations: 22     
    219. O'Driscoll MC, Black GC, Clayton-Smith J, Sherr EH, Dobyns WB. Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A. 2010 Sep; 152A(9):2145-59. PMID: 20683985.
      Citations: 21     Fields:    Translation:Humans
    220. Graham JM, Spencer AH, Grinberg I, Niesen CE, Platt LD, Maya M, Namavar Y, Baas F, Dobyns WB. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? Am J Med Genet A. 2010 Sep; 152A(9):2268-76. PMID: 20803644; PMCID: PMC2931360.
      Citations: 7     Fields:    Translation:Humans
    221. O'Driscoll MC, Daly SB, Urquhart JE, Black GC, Pilz DT, Brockmann K, McEntagart M, Abdel-Salam G, Zaki M, Wolf NI, Ladda RL, Sell S, D'Arrigo S, Squier W, Dobyns WB, Livingston JH, Crow YJ. Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet. 2010 Sep 10; 87(3):354-64. PMID: 20727516; PMCID: PMC2933344.
      Citations: 60     Fields:    Translation:HumansAnimalsCells
    222. Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features. Am J Med Genet A. 2010 Aug; 152A(8):2079-84. PMID: 20635367.
      Citations: 31     Fields:    Translation:Humans
    223. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG, Blümel P. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23; 142(2):203-17. PMID: 20637498; PMCID: PMC2940322.
      Citations: 131     Fields:    Translation:HumansAnimalsCells
    224. O'Driscoll MC, Jenny K, Saitta S, Dobyns WB, Gripp KW. Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? Am J Med Genet A. 2010 Jul; 152A(7):1621-6. PMID: 20583147.
      Citations:    Fields:    Translation:Humans
    225. Basel-Vanagaite L, Dobyns WB. Clinical and brain imaging heterogeneity of severe microcephaly. Pediatr Neurol. 2010 Jul; 43(1):7-16. PMID: 20682196.
      Citations: 11     Fields:    Translation:Humans
    226. Carr CW, Moreno-De-Luca D, Parker C, Zimmerman HH, Ledbetter N, Martin CL, Dobyns WB, Abdul-Rahman OA. Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet. 2010 Nov; 18(11):1216-20. PMID: 20571508; PMCID: PMC2987472.
      Citations: 41     Fields:    Translation:HumansCells
    227. Verkerk AJ, Schot R, van Waterschoot L, Douben H, Poddighe PJ, Lequin MH, de Vries LS, Terhal P, Hahnemann JM, de Coo IF, de Wit MC, Wafelman LS, Garavelli L, Dobyns WB, Van der Spek PJ, de Klein A, Mancini GM. Unbalanced der(5)t(5;20) translocation associated with megalencephaly, perisylvian polymicrogyria, polydactyly and hydrocephalus. Am J Med Genet A. 2010 Jun; 152A(6):1488-97. PMID: 20503325; PMCID: PMC2908594.
      Citations: 2     Fields:    Translation:HumansCells
    228. Pilz DT, Babatz TD, Cushion TD, Harvey K, Topf M, Yates L, Robb S, Mancini GM, Rees MI, Harvey RJ, Dobyns WB, Kumar RA, Uyanik G. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet. 2010 Jul 15; 19(14):2817-27. PMID: 20466733; PMCID: PMC2893812.
      Citations: 81     Fields:    Translation:HumansCells
    229. Gripp KW, Hopkins E, Doyle D, Dobyns WB. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet A. 2010 May; 152A(5):1161-8. PMID: 20425820; PMCID: PMC4910816.
      Citations: 46     Fields:    Translation:Humans
    230. Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Brain. 2010 May; 133(Pt 5):1415-27. PMID: 20403963; PMCID: PMC2859156.
      Citations: 76     Fields:    Translation:Humans
    231. Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia. Epilepsia. 2010 Feb; 51 Suppl 1:5-9. PMID: 20331703.
      Citations: 21     Fields:    Translation:HumansCells
    232. Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 2009 Dec; 132(Pt 12):3199-230. PMID: 19933510; PMCID: PMC2792369.
      Citations: 90     Fields:    Translation:Humans
    233. Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL. Copy number and sequence variants implicate APBA2 as an autism candidate gene. Autism Res. 2009 Dec; 2(6):359-64. PMID: 20029827.
      Citations: 16     Fields:    Translation:HumansCells
    234. Pavone P, Ruggieri M, Lombardo I, Sudi J, Biancheri R, Castellano-Chiodo D, Rossi A, Incorpora G, Nowak NJ, Christian SL, Pavone L, Dobyns WB. Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. Eur J Pediatr. 2010 Apr; 169(4):475-81. PMID: 19838731; PMCID: PMC2820683.
      Citations: 8     Fields:    Translation:HumansCells
    235. Mineyko A, Doja A, Hurteau J, Dobyns WB, Das S, Boycott KM. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. J Child Neurol. 2010 Jun; 25(6):738-41. PMID: 19808989.
      Citations: 6     Fields:    Translation:Humans
    236. Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D, Mégarbané A, Yüksel A. Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct; 149A(10):2173-80. PMID: 19764032; PMCID: PMC4340070.
      Citations: 15     Fields:    Translation:HumansCells
    237. Ashwal S, Michelson D, Plawner L, Dobyns WB, Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of th. Practice parameter: Evaluation of the child with microcephaly (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology. 2009 Sep 15; 73(11):887-97. PMID: 19752457; PMCID: PMC2744281.
      Citations: 88     Fields:    Translation:Humans
    238. Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet. 2009 Sep; 41(9):1037-42. PMID: 19668217; PMCID: PMC2843139.
      Citations: 109     Fields:    Translation:HumansCells
    239. Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010 Jan; 47(1):8-21. PMID: 19574260; PMCID: PMC3501959.
      Citations: 74     Fields:    Translation:Humans
    240. Kumar RA, Sudi J, Babatz TD, Brune CW, Oswald D, Yen M, Nowak NJ, Cook EH, Christian SL, Dobyns WB. A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism. J Med Genet. 2010 Feb; 47(2):81-90. PMID: 19546099; PMCID: PMC2921284.
      Citations: 26     Fields:    Translation:Humans
    241. Marsh E, Fulp C, Gomez E, Nasrallah I, Minarcik J, Sudi J, Christian SL, Mancini G, Labosky P, Dobyns W, Brooks-Kayal A, Golden JA. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain. 2009 Jun; 132(Pt 6):1563-76. PMID: 19439424; PMCID: PMC2685924.
      Citations: 95     Fields:    Translation:HumansAnimalsCells
    242. Gripp KW, Hopkins E, Vinkler C, Lev D, Malinger G, Lerman-Sagie T, Dobyns WB. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Am J Med Genet A. 2009 May; 149A(5):868-76. PMID: 19353582.
      Citations: 12     Fields:    Translation:Humans
    243. Solomon BD, Lacbawan F, Jain M, Roessler E, Moore C, Dobyns WB, Muenke M, Domené S. A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A. 2009 May; 149A(5):919-25. PMID: 19353631; PMCID: PMC2737713.
      Citations: 25     Fields:    Translation:Humans
    244. Lacbawan F, Solomon BD, Roessler E, El-Jaick K, Zhou N, Hadley D, Balog JZ, Long R, Fryer A, Smith W, Omar S, McLean SD, Clarkson K, Lichty A, Clegg NJ, Delgado MR, Levey E, Stashinko E, Potocki L, Vanallen MI, Clayton-Smith J, Donnai D, Bianchi DW, Juliusson PB, Brunner HG, Carey JC, Hehr U, Wieacker PF, Postra A, Hennekam RC, van den Boogaard MJ, van Haeringen A, Paulussen A, Herbergs J, Schrander-Stumpel CT, Janecke AR, Chitayat D, Hahn J, McDonald-McGinn DM, Zackai EH, Dobyns WB, Muenke M, Domené S, Vélez JI, Njølstad PR, Müsebeck J. Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet. 2009 Jun; 46(6):389-98. PMID: 19346217; PMCID: PMC3510661.
      Citations: 43     Fields:    Translation:Humans
    245. Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Association and mutation analyses of 16p11.2 autism candidate genes. PLoS One. 2009; 4(2):e4582. PMID: 19242545; PMCID: PMC2644762.
      Citations: 49     Fields:    Translation:HumansAnimalsCells
    246. Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb; 149A(2):129-37. PMID: 19161147; PMCID: PMC2800951.
      Citations: 2     Fields:    Translation:HumansCells
    247. Briggs TA, Wolf NI, D'Arrigo S, Ebinger F, Harting I, Dobyns WB, Livingston JH, Rice GI, Crooks D, Rowland-Hill CA, Squier W, Stoodley N, Pilz DT, Crow YJ. Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype. Am J Med Genet A. 2008 Dec 15; 146A(24):3173-80. PMID: 19012351.
      Citations: 12     Fields:    Translation:Humans
    248. Haverfield EV, Whited AJ, Petras KS, Dobyns WB, Das S. Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8. PMID: 19050731; PMCID: PMC2986498.
      Citations: 27     Fields:    Translation:Humans
    249. Nicholas AK, Swanson EA, Cox JJ, Karbani G, Malik S, Springell K, Hampshire D, Ahmed M, Bond J, Di Benedetto D, Fichera M, Romano C, Dobyns WB, Woods CG. The molecular landscape of ASPM mutations in primary microcephaly. J Med Genet. 2009 Apr; 46(4):249-53. PMID: 19028728; PMCID: PMC2658750.
      Citations: 45     Fields:    Translation:Humans
    250. Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008 Nov; 29(11):E231-41. PMID: 18752264; PMCID: PMC2577713.
      Citations: 25     Fields:    Translation:Humans
    251. Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Frank U, Klopocki E, Dobyns WB, Kutsche K, Najm J, Uyanik G. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep; 40(9):1065-7. PMID: 19165920.
      Citations: 128     Fields:    Translation:Humans
    252. Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB, Van Maldergem L. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 2008 Nov 11; 71(20):1602-8. PMID: 18716235.
      Citations: 16     Fields:    Translation:HumansCells
    253. Chanda B, Asai-Coakwell M, Ye M, Mungall AJ, Barrow M, Dobyns WB, Behesti H, Sowden JC, Carter NP, Walter MA, Lehmann OJ. A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation. Hum Mol Genet. 2008 Nov 15; 17(22):3446-58. PMID: 18694899; PMCID: PMC2572693.
      Citations: 19     Fields:    Translation:HumansCells
    254. Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG, Attié-Bitach T. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9. PMID: 18674751; PMCID: PMC2495072.
      Citations: 196     Fields:    Translation:HumansAnimalsCells
    255. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54. PMID: 18536050; PMCID: PMC2801020.
      Citations: 33     Fields:    Translation:HumansCells
    256. Merello E, Swanson E, De Marco P, Akhter M, Striano P, Rossi A, Cama A, Leventer RJ, Guerrini R, Capra V, Dobyns WB. No major role for the EMX2 gene in schizencephaly. Am J Med Genet A. 2008 May 01; 146A(9):1142-50. PMID: 18409201.
      Citations: 16     Fields:    Translation:HumansAnimals
    257. Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S, Badner JA, Matsui S, Conroy J, McQuaid D, Gergel J, Hatchwell E, Gilliam TC, Gershon ES, Nowak NJ, Dobyns WB, Cook EH. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry. 2008 Jun 15; 63(12):1111-7. PMID: 18374305; PMCID: PMC2440346.
      Citations: 140     Fields:    Translation:HumansCells
    258. Zaki MS, Abdel-Aleem A, Abdel-Salam G, Marsh SE, Silhavy JL, Barkovich AJ, Ross ME, Saleem SN, Dobyns WB, Gleeson JG. The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology. 2008 Feb 12; 70(7):556-65. PMID: 18268248.
      Citations: 18     Fields:    Translation:Humans
    259. Guerrini R, Dobyns WB, Barkovich AJ. Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options. Trends Neurosci. 2008 Mar; 31(3):154-62. PMID: 18262290.
      Citations: 86     Fields:    Translation:Humans
    260. Jalali A, Aldinger KA, Chary A, McLone DG, Bowman RM, Le LC, Jardine P, Newbury-Ecob R, Mallick A, Jafari N, Russell EJ, Curran J, Nguyen P, Ouahchi K, Lee C, Dobyns WB, Millen KJ, Pina-Neto JM, Kessler JA, Bassuk AG. Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum Genet. 2008 Apr; 123(3):237-45. PMID: 18204864; PMCID: PMC2822644.
      Citations: 13     Fields:    Translation:HumansCells
    261. Leventer RJ, Guerrini R, Dobyns WB. Malformations of cortical development and epilepsy. Dialogues Clin Neurosci. 2008; 10(1):47-62. PMID: 18472484; PMCID: PMC3181860.
      Citations: 72     Fields:    Translation:Humans
    262. Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH, Dobyns WB, Christian SL. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet. 2008 Feb 15; 17(4):628-38. PMID: 18156158.
      Citations: 323     Fields:    Translation:HumansCells
    263. Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007 Dec 15; 143A(24):2981-3008. PMID: 18000912; PMCID: PMC6816457.
      Citations: 35     Fields:    Translation:Humans
    264. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72. PMID: 18000987.
      Citations: 16     Fields:    Translation:Humans
    265. Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol. 2007 Dec; 62(6):625-39. PMID: 17924529.
      Citations: 30     Fields:    Translation:Humans
    266. Garavelli L, Guareschi E, Errico S, Simoni A, Bergonzini P, Zollino M, Gurrieri F, Mancini GM, Schot R, Van Der Spek PJ, Frigieri G, Zonari P, Albertini E, Giustina ED, Amarri S, Banchini G, Dobyns WB, Neri G. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. Neuropediatrics. 2007 Aug; 38(4):200-3. PMID: 18058629.
      Citations: 8     Fields:    Translation:Humans
    267. Guerrini R, Moro F, Kato M, Barkovich AJ, Shiihara T, McShane MA, Hurst J, Loi M, Tohyama J, Norci V, Hayasaka K, Kang UJ, Das S, Dobyns WB. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology. 2007 Jul 31; 69(5):427-33. PMID: 17664401.
      Citations: 46     Fields:    Translation:HumansCells
    268. Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug; 81(2):292-303. PMID: 17668379; PMCID: PMC1950798.
      Citations: 70     Fields:    Translation:HumansAnimalsCells
    269. O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet. 2007 Jul; 81(1):77-86. PMID: 17564965; PMCID: PMC1950915.
      Citations: 26     Fields:    Translation:HumansCells
    270. Zaki M, Shehab M, El-Aleem AA, Abdel-Salam G, Koeller HB, Ilkin Y, Ross ME, Dobyns WB, Gleeson JG. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation. Am J Med Genet A. 2007 May 01; 143A(9):939-44. PMID: 17431900.
      Citations: 34     Fields:    Translation:Humans
    271. Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L, Cantagrel V. Truncation of NHEJ1 in a patient with polymicrogyria. Hum Mutat. 2007 Apr; 28(4):356-64. PMID: 17191205.
      Citations: 15     Fields:    Translation:HumansAnimals
    272. Brashear A, Dobyns WB, de Carvalho Aguiar P, Borg M, Frijns CJ, Gollamudi S, Green A, Haake BC, Klein C, Linazasoro G, Raymond D, Riley D, Saunders-Pullman R, Tijssen MA, Webb D, Zaremba J, Bressman SB, Ozelius LJ, Guimaraes J, Münchau A. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007 Mar; 130(Pt 3):828-35. PMID: 17282997.
      Citations: 86     Fields:    Translation:Humans
    273. Kumar RA, Leach S, Bonaguro R, Chen J, Yokom DW, Abrahams BS, Seaver L, Schwartz CE, Dobyns W, Brooks-Wilson A, Simpson EM. Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations. Genes Brain Behav. 2007 Aug; 6(6):503-16. PMID: 17054721; PMCID: PMC2040186.
      Citations: 8     Fields:    Translation:HumansAnimals
    274. Robin NH, Taylor CJ, McDonald-McGinn DM, Zackai EH, Bingham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF, McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventer RJ, Pilz DT, Dobyns WB. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet A. 2006 Nov 15; 140(22):2416-25. PMID: 17036343.
      Citations: 50     Fields:    Translation:HumansCells
    275. Martin RD, Maclarnon AM, Phillips JL, Dobyns WB. Flores hominid: new species or microcephalic dwarf? Anat Rec A Discov Mol Cell Evol Biol. 2006 Nov; 288(11):1123-45. PMID: 17031806.
      Citations: 22     Fields:    Translation:HumansAnimals
    276. Martin RD, Maclarnon AM, Phillips JL, Dussubieux L, Williams PR, Dobyns WB. Comment on "The Brain of LB1, Homo floresiensis". Science. 2006 May 19; 312(5776):999; author reply 999. PMID: 16709768.
      Citations: 10     Fields:    Translation:HumansAnimals
    277. Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906. PMID: 16684786.
      Citations: 118     Fields:    Translation:HumansCells
    278. Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Cerebellar ataxia with progressive improvement. Arch Neurol. 2006 Apr; 63(4):594-7. PMID: 16606775.
      Citations: 3     Fields:    Translation:HumansCells
    279. Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl. 2006 Apr; 95(451):11-5. PMID: 16720459.
      Citations: 15     Fields:    Translation:HumansAnimals
    280. Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG, International JSRD Study Group. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol. 2006 Mar; 59(3):527-34. PMID: 16453322.
      Citations: 68     Fields:    Translation:HumansAnimals
    281. Vajsar J, Zhang W, Dobyns WB, Biggar D, Holden KR, Hawkins C, Ray P, Olney AH, Burson CM, Srivastava AK, Schachter H. Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6. PMID: 16427280.
      Citations: 7     Fields:    Translation:HumansCells
    282. Wieck G, Leventer RJ, Squier WM, Jansen A, Andermann E, Dubeau F, Ramazzotti A, Guerrini R, Dobyns WB. Periventricular nodular heterotopia with overlying polymicrogyria. Brain. 2005 Dec; 128(Pt 12):2811-21. PMID: 16311271.
      Citations: 23     Fields:    Translation:HumansCells
    283. Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7. PMID: 16240336.
      Citations: 55     Fields:    Translation:Humans
    284. Forman MS, Squier W, Dobyns WB, Golden JA. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol. 2005 Oct; 64(10):847-57. PMID: 16215456.
      Citations: 34     Fields:    Translation:Humans
    285. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development. Neurology. 2005 Dec 27; 65(12):1873-87. PMID: 16192428.
      Citations: 169     Fields:    Translation:Humans
    286. Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, Bakhsh E, Indridason OS, Dobyns WB, Bennett CL, Chance PF, Glass IA. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet. 2006 Apr; 43(4):334-9. PMID: 16155189; PMCID: PMC2563230.
      Citations: 54     Fields:    Translation:HumansCells
    287. Gilbert SL, Dobyns WB, Lahn BT. Genetic links between brain development and brain evolution. Nat Rev Genet. 2005 Jul; 6(7):581-90. PMID: 15951746.
      Citations: 53     Fields:    Translation:HumansAnimals
    288. Moog U, Jones MC, Bird LM, Dobyns WB. Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21. PMID: 15879499; PMCID: PMC1735958.
      Citations: 16     Fields:    Translation:Humans
    289. Kato M, Dobyns WB. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy". J Child Neurol. 2005 Apr; 20(4):392-7. PMID: 15921244.
      Citations: 63     Fields:    Translation:HumansCells
    290. Pancoast M, Dobyns W, Golden JA. Interneuron deficits in patients with the Miller-Dieker syndrome. Acta Neuropathol. 2005 Apr; 109(4):400-4. PMID: 15739099.
      Citations: 19     Fields:    Translation:HumansCells
    291. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER, Mégarbané A. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005 Mar; 37(3):221-3. PMID: 15696165.
      Citations: 96     Fields:    Translation:HumansCells
    292. Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15; 133A(1):53-7. PMID: 15637732.
      Citations: 20     Fields:    Translation:HumansCells
    293. Mirzaa G, Dodge NN, Glass I, Day C, Gripp K, Nicholson L, Straub V, Voit T, Dobyns WB. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004 Dec; 35(6):353-9. PMID: 15627943.
      Citations: 22     Fields:    Translation:Humans
    294. Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct; 41(10):e115. PMID: 15466003; PMCID: PMC1735594.
      Citations: 17     Fields:    Translation:Humans
    295. Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, Oosterwijk JC, Ober C. Inheritance of most X-linked traits is not dominant or recessive, just X-linked. Am J Med Genet A. 2004 Aug 30; 129A(2):136-43. PMID: 15316978.
      Citations: 52     Fields:    Translation:HumansCells
    296. Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ. Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. Nat Genet. 2004 Oct; 36(10):1053-5. PMID: 15338008.
      Citations: 84     Fields:    Translation:HumansAnimalsCells
    297. Graham JM, Hennekam R, Dobyns WB, Roeder E, Busch D. MICRO syndrome: an entity distinct from COFS syndrome. Am J Med Genet A. 2004 Jul 30; 128A(3):235-45. PMID: 15216543.
      Citations: 23     Fields:    Translation:Humans
    298. de Carvalho Aguiar P, Sweadner KJ, Penniston JT, Zaremba J, Liu L, Caton M, Linazasoro G, Borg M, Tijssen MA, Bressman SB, Dobyns WB, Brashear A, Ozelius LJ. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004 Jul 22; 43(2):169-75. PMID: 15260953.
      Citations: 190     Fields:    Translation:HumansCells
    299. Guerrini R, Mei D, Sisodiya S, Sicca F, Harding B, Takahashi Y, Dorn T, Yoshida A, Campistol J, Moro F, Dobyns WB, Parrini E, Krämer G. Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology. 2004 Jul 13; 63(1):51-6. PMID: 15249610.
      Citations: 42     Fields:    Translation:HumansCells
    300. Kamm C, Leung J, Joseph S, Dobyns WB, Brashear A, Breakefield XO, Ozelius LJ. Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene. Mov Disord. 2004 Jul; 19(7):845-847. PMID: 15254951.
      Citations: 1     Fields:    Translation:HumansCells
    301. Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004 Jul; 75(1):82-91. PMID: 15138899; PMCID: PMC1182011.
      Citations: 107     Fields:    Translation:HumansCells
    302. Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F, Beltran-Valero de Bernabé D. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May; 41(5):e61. PMID: 15121789; PMCID: PMC1735772.
      Citations: 93     Fields:    Translation:Humans
    303. Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Barkovich AJ, Walsh CA, Déscarie JC. G protein-coupled receptor-dependent development of human frontal cortex. Science. 2004 Mar 26; 303(5666):2033-6. PMID: 15044805.
      Citations: 211     Fields:    Translation:HumansAnimalsCells
    304. Keegan CE, Vilain E, Mohammed M, Lehoczky J, Dobyns WB, Archer SM, Innis JW. Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. Am J Med Genet A. 2004 Mar 15; 125A(3):293-8. PMID: 14994240.
      Citations: 3     Fields:    Translation:HumansCells
    305. Gleeson JG, Keeler LC, Parisi MA, Marsh SE, Chance PF, Glass IA, Graham JM, Maria BL, Barkovich AJ, Dobyns WB. Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A. 2004 03 01; 125A(2):125-34; discussion 117. PMID: 14981712.
      Citations: 82     Fields:    Translation:Humans
    306. Stevens CA, Dobyns WB. Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis. Am J Med Genet A. 2004 Feb 15; 125A(1):12-6. PMID: 14755460.
      Citations: 10     Fields:    Translation:Humans
    307. Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Iida E, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Schelley SL, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Yanazawa M, Zackai EH, Dobyns WB, Bonneau D, Guerrini R, Saugier-Veber P, Selicorni A, Toutain A, Vargas AL. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159. PMID: 14722918.
      Citations: 100     Fields:    Translation:HumansCells
    308. Giampietro PF, Babu D, Koehn MA, Jacobson DM, Mueller-Schrader KA, Moretti C, Patten SF, Shaffer LG, Gorlin RJ, Dobyns WB. New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria. Am J Med Genet A. 2004 Jan 15; 124A(2):202-8. PMID: 14699622.
      Citations: 2     Fields:    Translation:Humans
    309. Gilbert SL, Ozdag F, Ulas UH, Dobyns WB, Lahn BT. Hereditary hyperekplexia caused by novel mutations of GLRA1 in Turkish families. Mol Diagn. 2004; 8(3):151-5. PMID: 15771552.
      Citations: 6     Fields:    Translation:Humans
    310. Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature. Neuropediatrics. 2003 Dec; 34(6):287-92. PMID: 14681753.
      Citations: 9     Fields:    Translation:Humans
    311. Leeflang EP, Marsh SE, Parrini E, Moro F, Pilz D, Dobyns WB, Guerrini R, Wheless JW, Gleeson JG. Patient with bilateral periventricular nodular heterotopia and polymicrogyria with apparently balanced reciprocal translocation t(1;6)(p12;p12.2) that interrupts the mannosidase alpha, class 1A, and glutathione S-transferase A2 genes. J Med Genet. 2003 Dec; 40(12):e128. PMID: 14684696; PMCID: PMC1735351.
      Citations: 6     Fields:    Translation:HumansCells
    312. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90. PMID: 14556252.
      Citations: 9     Fields:    Translation:Humans
    313. van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG, de Bernabé DB. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet. 2003 Nov; 40(11):845-8. PMID: 14627679; PMCID: PMC1735302.
      Citations: 43     Fields:    Translation:Humans
    314. Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003 Oct 28; 61(8):1042-6. PMID: 14581661.
      Citations: 38     Fields:    Translation:Humans
    315. Parisi MA, Dobyns WB. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Mol Genet Metab. 2003 Sep-Oct; 80(1-2):36-53. PMID: 14567956.
      Citations: 49     Fields:    Translation:Humans
    316. Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB. Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology. 2003 Jul 22; 61(2):267-76. PMID: 12874418.
      Citations: 31     Fields:    Translation:HumansCells
    317. Ramocki MB, Dowling J, Grinberg I, Kimonis VE, Cardoso C, Gross A, Chung J, Martin CL, Ledbetter DH, Dobyns WB, Millen KJ. Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. Eur J Hum Genet. 2003 Jul; 11(7):527-34. PMID: 12825074.
      Citations: 13     Fields:    Translation:HumansCells
    318. Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki AE, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Clin Biochem. 2003 Jul; 36(5):339-44. PMID: 12849864.
      Citations: 11     Fields:    Translation:Humans
    319. Guerrini R, Moro F, Andermann E, Hughes E, D'Agostino D, Carrozzo R, Bernasconi A, Flinter F, Parmeggiani L, Volzone A, Parrini E, Mei D, Jarosz JM, Morris RG, Pratt P, Tortorella G, Andermann F, Dobyns WB, Das S, Dubeau F. Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7. PMID: 12838518.
      Citations: 15     Fields:    Translation:Humans
    320. Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet. 2003 Jul; 34(3):274-85. PMID: 12796778.
      Citations: 144     Fields:    Translation:HumansAnimalsCells
    321. Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. J Med Genet. 2003 Jun; 40(6):441-6. PMID: 12807966; PMCID: PMC1735502.
      Citations: 40     Fields:    Translation:HumansCells
    322. Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol. 2003 May; 53(5):596-606. PMID: 12730993.
      Citations: 36     Fields:    Translation:HumansCells
    323. Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet. 2003 Apr 01; 12 Spec No 1:R89-96. PMID: 12668601.
      Citations: 76     Fields:    Translation:HumansCells
    324. Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003 Apr; 72(4):918-30. PMID: 12621583; PMCID: PMC1180354.
      Citations: 63     Fields:    Translation:HumansCells
    325. D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Andermann F, Dobyns WB, Andermann E, D'Agostino MD, Bernasconi A, Das S, Bastos A, Valerio RM, Costa da Costa J, Scheffer IE, Berkovic S, Guerrini R, Dravet C, Ono J, Gigli G, Federico A, Booth F, Bernardi B, Volpi L, Tassinari CA, Guggenheim MA, Ledbetter DH, Gleeson JG, Lopes-Cendes I, Vossler DG, Malaspina E, Franzoni E, Sartori RJ, Mitchell MH, Mercho S, Andermann F, Dobyns WB, Andermann E. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 2002 Nov; 125(Pt 11):2507-22. PMID: 12390976.
      Citations: 29     Fields:    Translation:HumansCells
    326. Dobyns WB, Dobyns WB. Primary microcephaly: new approaches for an old disorder. Am J Med Genet. 2002 Nov 01; 112(4):315-7. PMID: 12376930.
      Citations: 13     Fields:    Translation:Humans
    327. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K, Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002 Nov; 32(3):359-69. PMID: 12379852.
      Citations: 234     Fields:    Translation:HumansAnimalsCells
    328. Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Voit T, Walsh CA, van Bokhoven H, Brunner HG, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov; 71(5):1033-43. PMID: 12369018; PMCID: PMC419999.
      Citations: 194     Fields:    Translation:HumansCells
    329. Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH, Martin CL, Waggoner DJ, Wong A, Uhrig S, Roseberry JA, Hedrick JF, Pack SD, Russell K, Zackai E, Dobyns WB, Ledbetter DH. "Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002 Oct; 39(10):734-40. PMID: 12362030; PMCID: PMC1734978.
      Citations: 13     Fields:    Translation:HumansCells
    330. Poolos NP, Das S, Clark GD, Lardizabal D, Noebels JL, Wyllie E, Dobyns WB. Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX. Neurology. 2002 May 28; 58(10):1559-62. PMID: 12034802.
      Citations: 11     Fields:    Translation:Humans
    331. Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM, Winter RM, Leventer RJ, Dobyns WB, Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM, Winter RM, Leventer RJ, Dobyns WB. A locus for bilateral perisylvian polymicrogyria maps to Xq28. Am J Hum Genet. 2002 Apr; 70(4):1003-8. PMID: 11822025; PMCID: PMC379093.
      Citations: 24     Fields:    Translation:HumansCells
    332. Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH. Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Hum Mutat. 2002 Jan; 19(1):4-15. PMID: 11754098.
      Citations: 39     Fields:    Translation:HumansAnimals
    333. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. Classification system for malformations of cortical development: update 2001. Neurology. 2001 Dec 26; 57(12):2168-78. PMID: 11785496.
      Citations: 91     Fields:    Translation:Humans
    334. Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics. 2001 Oct; 32(5):256-63. PMID: 11748497.
      Citations: 33     Fields:    Translation:Humans
    335. Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB, Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1: from cortical malformation to essential protein of cellular dynamics. Trends Neurosci. 2001 Sep; 24(9):489-92. PMID: 11506866.
      Citations: 7     Fields:    Translation:HumansAnimalsCells
    336. Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA, Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA. Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15; 10(17):1775-83. PMID: 11532987.
      Citations: 87     Fields:    Translation:HumansCells
    337. Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB, Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology. 2001 Aug 14; 57(3):416-22. PMID: 11502906.
      Citations: 9     Fields:    Translation:Humans
    338. Demelas L, Serra G, Conti M, Achene A, Mastropaolo C, Matsumoto N, Dudlicek LL, Mills PL, Dobyns WB, Ledbetter DH, Das S. Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene. Neurology. 2001 Jul 24; 57(2):327-30. PMID: 11468322.
      Citations: 5     Fields:    Translation:HumansCells
    339. Cormand B, Pihko H, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE, Bayés M. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology. 2001 Apr 24; 56(8):1059-69. PMID: 11320179.
      Citations: 37     Fields:    Translation:HumansCells
    340. Barkovich AJ, Kuzniecky RI, Dobyns WB. Radiologic classification of malformations of cortical development. Curr Opin Neurol. 2001 Apr; 14(2):145-9. PMID: 11262727.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    341. Ungaro P, Christian SL, Fantes JA, Mutirangura A, Black S, Reynolds J, Malcolm S, Dobyns WB, Ledbetter DH. Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14. J Med Genet. 2001 Jan; 38(1):26-34. PMID: 11134237; PMCID: PMC1734721.
      Citations: 26     Fields:    Translation:HumansCells
    342. Matsumoto N, Leventer RJ, Kuc JA, Mewborn SK, Dudlicek LL, Ramocki MB, Pilz DT, Mills PL, Das S, Ross ME, Ledbetter DH, Dobyns WB. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet. 2001 Jan; 9(1):5-12. PMID: 11175293.
      Citations: 36     Fields:    Translation:HumansCells
    343. Cardoso C, Leventer RJ, Matsumoto N, Kuc JA, Ramocki MB, Mewborn SK, Dudlicek LL, May LF, Mills PL, Das S, Pilz DT, Dobyns WB, Ledbetter DH. The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene. Hum Mol Genet. 2000 Dec 12; 9(20):3019-28. PMID: 11115846.
      Citations: 25     Fields:    Translation:HumansCells
    344. Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol. 2000 Nov; 30(11):748-55. PMID: 11100490.
      Citations: 12     Fields:    Translation:HumansCells
    345. Henrot B, Saint-Martin C, Kadhim H, Dobyns WB, Nassogne MC, Sébire G. Polymicrogyria and motor neuropathy in Micro syndrome. Neuropediatrics. 2000 Aug; 31(4):218-21. PMID: 11071150.
      Citations: 7     Fields:    Translation:Humans
    346. Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81. PMID: 10915612; PMCID: PMC1287517.
      Citations: 33     Fields:    Translation:HumansCells
    347. Pavone L, Rizzo R, Pavone P, Curatolo P, Dobyns WB. Diffuse polymicrogyria associated with congenital hydrocephalus, craniosynostosis, severe mental retardation, and minor facial and genital anomalies. J Child Neurol. 2000 Jul; 15(7):493-5. PMID: 10921525.
      Citations: 1     Fields:    Translation:HumansCells
    348. Leventer RJ, Pilz DT, Matsumoto N, Ledbetter DH, Dobyns WB. Lissencephaly and subcortical band heterotopia: molecular basis and diagnosis. Mol Med Today. 2000 Jul; 6(7):277-84. PMID: 10859564.
      Citations: 4     Fields:    Translation:HumansCells
    349. Guerreiro MM, Andermann E, Guerrini R, Dobyns WB, Kuzniecky R, Silver K, Van Bogaert P, Gillain C, David P, Ambrosetto G, Rosati A, Bartolomei F, Parmeggiani A, Paetau R, Salonen O, Ignatius J, Borgatti R, Zucca C, Bastos AC, Palmini A, Fernandes W, Montenegro MA, Cendes F, Andermann F. Familial perisylvian polymicrogyria: a new familial syndrome of cortical maldevelopment. Ann Neurol. 2000 Jul; 48(1):39-48. PMID: 10894214.
      Citations: 27     Fields:    Translation:Humans
    350. Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Mech Dev. 2000 Apr; 92(2):263-71. PMID: 10727864.
      Citations: 9     Fields:    Translation:HumansCells
    351. Guerrini R, Barkovich AJ, Sztriha L, Dobyns WB. Bilateral frontal polymicrogyria: a newly recognized brain malformation syndrome. Neurology. 2000 Feb 22; 54(4):909-13. PMID: 10690985.
      Citations: 28     Fields:    Translation:Humans
    352. Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9. PMID: 10665503.
      Citations: 19     Fields:    Translation:Humans
    353. Leventer RJ, Mills PL, Dobyns WB. X-linked malformations of cortical development. Am J Med Genet. 2000; 97(3):213-20. PMID: 11449490.
      Citations: 6     Fields:    Translation:HumansCells
    354. Kerner B, Graham JM, Golden JA, Pepkowitz SH, Dobyns WB. Familial lissencephaly with cleft palate and severe cerebellar hypoplasia. Am J Med Genet. 1999 Dec 22; 87(5):440-5. PMID: 10594886.
      Citations: 3     Fields:    Translation:Humans
    355. Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet. 1999 Oct 29; 86(5):459-69. PMID: 10508989.
      Citations: 40     Fields:    Translation:Humans
    356. Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7. PMID: 10494089.
      Citations: 29     Fields:    Translation:HumansCells
    357. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol. 1999 Oct; 14(10):660-6; discussion 669-72. PMID: 10511339.
      Citations: 22     Fields:    Translation:HumansAnimals
    358. Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999 Sep; 8(9):1757-60. PMID: 10441340.
      Citations: 27     Fields:    Translation:Humans
    359. Pollin TI, Dobyns WB, Crowe CA, Ledbetter DH, Bailey-Wilson JE, Smith AC. Risk of abnormal pregnancy outcome in carriers of balanced reciprocal translocations involving the Miller-Dieker syndrome (MDS) critical region in chromosome 17p13.3. Am J Med Genet. 1999 Aug 06; 85(4):369-75. PMID: 10398263.
      Citations: 1     Fields:    Translation:HumansCells
    360. Kramer PL, Mineta M, Klein C, Schilling K, de Leon D, Farlow MR, Breakefield XO, Bressman SB, Dobyns WB, Ozelius LJ, Brashear A. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999 Aug; 46(2):176-82. PMID: 10443882.
      Citations: 14     Fields:    Translation:HumansCells
    361. Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Jul 22; 53(2):270-7. PMID: 10430413.
      Citations: 40     Fields:    Translation:HumansCells
    362. Peiffer A, Singh N, Leppert M, Dobyns WB, Carey JC. Microcephaly with simplified gyral pattern in six related children. Am J Med Genet. 1999 May 21; 84(2):137-44. PMID: 10323739.
      Citations: 4     Fields:    Translation:Humans
    363. Guerrini R, Canapicchi R, Dobyns WB. Epilepsy and malformations of the cerebral cortex. Neurologia. 1999 May; 14 Suppl 3:32-47. PMID: 10379165.
      Citations: 6     Fields:    Translation:Humans
    364. Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53. PMID: 9989615.
      Citations: 38     Fields:    Translation:HumansCells
    365. Guerrini R, Andermann E, Avoli M, Dobyns WB. Cortical dysplasias, genetics, and epileptogenesis. Adv Neurol. 1999; 79:95-121. PMID: 10514808.
      Citations: 7     Fields:    Translation:Humans
    366. Webb DW, Broderick A, Brashear A, Dobyns WB. Rapid onset dystonia-parkinsonism in a 14-year-old girl. Eur J Paediatr Neurol. 1999; 3(4):171-3. PMID: 10476366.
      Citations:    Fields:    Translation:Humans
    367. Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB. Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat. 1999; 14(5):369-76. PMID: 10533062.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    368. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25. PMID: 9883725.
      Citations: 245     Fields:    Translation:HumansAnimalsCells
    369. Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37. PMID: 9817918.
      Citations: 98     Fields:    Translation:HumansCells
    370. Pilz DT, Macha ME, Precht KS, Smith AC, Dobyns WB, Ledbetter DH. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med. 1998 Nov-Dec; 1(1):29-33. PMID: 11261426.
      Citations: 8     Fields:    Translation:HumansCells
    371. Allanson JE, Ledbetter DH, Dobyns WB. Classical lissencephaly syndromes: does the face reflect the brain? J Med Genet. 1998 Nov; 35(11):920-3. PMID: 9832039; PMCID: PMC1051485.
      Citations: 1     Fields:    Translation:Humans
    372. Sossey-Alaoui K, Hartung AJ, Guerrini R, Manchester DK, Posar A, Puche-Mira A, Andermann E, Dobyns WB, Srivastava AK. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet. 1998 Aug; 7(8):1327-32. PMID: 9668176.
      Citations: 25     Fields:    Translation:HumansAnimalsCells
    373. Dobyns WB, Guerrini R. Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation. Neurology. 1998 Aug; 51(2):499-503. PMID: 9710025.
      Citations: 8     Fields:    Translation:HumansCells
    374. Ferriero DM, Barr RM, Gressens P, Dobyns WB, Truwit CL, Evrard P, Barkovich AJ. Microlissencephaly: a heterogeneous malformation of cortical development. Neuropediatrics. 1998 Jun; 29(3):113-9. PMID: 9706619.
      Citations: 15     Fields:    Translation:Humans
    375. Brashear A, Butler IJ, Hyland K, Farlow MR, Dobyns WB. Cerebrospinal fluid homovanillic acid levels in rapid-onset dystonia-parkinsonism. Ann Neurol. 1998 Apr; 43(4):521-6. PMID: 9546335.
      Citations: 7     Fields:    Translation:Humans
    376. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 09; 92(1):63-72. PMID: 9489700.
      Citations: 289     Fields:    Translation:HumansCells
    377. Brashear A, Butler IJ, Ozelius LJ, Kramer PI, Farlow MR, Breakefield XO, Dobyns WB. Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol. 1998; 78:335-9. PMID: 9750930.
      Citations: 5     Fields:    Translation:Humans
    378. Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, Zee DS, Clark HB, Anderson JH. Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997 Dec; 42(6):933-50. PMID: 9403487.
      Citations: 79     Fields:    Translation:HumansCells
    379. Dobyns WB, Guerrini R, Czapansky-Beilman DK, Pierpont ME, Breningstall G, Yock DH, Bonanni P, Truwit CL. Bilateral periventricular nodular heterotopia with mental retardation and syndactyly in boys: a new X-linked mental retardation syndrome. Neurology. 1997 Oct; 49(4):1042-7. PMID: 9339687.
      Citations: 12     Fields:    Translation:HumansCells
    380. Fink JM, Dobyns WB, Guerrini R, Hirsch BA. Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia. Am J Hum Genet. 1997 Aug; 61(2):379-87. PMID: 9311743; PMCID: PMC1715887.
      Citations: 16     Fields:    Translation:HumansCells
    381. Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997 May 02; 70(1):67-73. PMID: 9129744.
      Citations: 26     Fields:    Translation:Humans
    382. Schwabe MJ, Dobyns WB, Burke B, Armstrong DL. Valproate-induced liver failure in one of two siblings with Alpers disease. Pediatr Neurol. 1997 May; 16(4):337-43. PMID: 9258971.
      Citations: 7     Fields:    Translation:Humans
    383. Brashear A, DeLeon D, Bressman SB, Thyagarajan D, Farlow MR, Dobyns WB. Rapid-onset dystonia-parkinsonism in a second family. Neurology. 1997 Apr; 48(4):1066-9. PMID: 9109901.
      Citations: 17     Fields:    Translation:Humans
    384. Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA, Motté J. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet. 1997 Apr; 6(4):555-62. PMID: 9097958.
      Citations: 14     Fields:    Translation:HumansCells
    385. Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet. 1997 Feb; 6(2):157-64. PMID: 9063735.
      Citations: 83     Fields:    Translation:HumansCells
    386. Chong SS, Pack SD, Roschke AV, Tanigami A, Carrozzo R, Smith AC, Dobyns WB, Ledbetter DH. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet. 1997 Feb; 6(2):147-55. PMID: 9063734.
      Citations: 44     Fields:    Translation:HumansCells
    387. Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan; 15(1):62-9. PMID: 8988170.
      Citations: 379     Fields:    Translation:HumansAnimalsCells
    388. Au KS, Rodriguez JA, Rodriguez E, Dobyns WB, Delgado MR, Northrup H. Mutations and polymorphisms in the tuberous sclerosis complex gene on chromosome 16. Hum Mutat. 1997; 9(1):23-9. PMID: 8990004.
      Citations: 6     Fields:    Translation:HumansCells
    389. Mostofsky SH, Blasco PA, Butler IJ, Dobyns WB. Autosomal dominant torsion dystonia with onset in infancy. Pediatr Neurol. 1996 Oct; 15(3):245-8. PMID: 8916165.
      Citations:    Fields:    Translation:Humans
    390. Pavone L, Fiumara A, Barone R, Rizzo R, Buttitta P, Dobyns WB, Jaeken J. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol. 1996 Oct; 243(10):700-5. PMID: 8923302.
      Citations: 6     Fields:    Translation:Humans
    391. Zelnik N, Dobyns WB, Forem SL, Kolodny EH. Congenital pontocerebellar atrophy in three patients: clinical, radiologic and etiologic considerations. Neuroradiology. 1996 Oct; 38(7):684-7. PMID: 8912329.
      Citations: 6     Fields:    Translation:Humans
    392. Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL. X-linked malformations of neuronal migration. Neurology. 1996 Aug; 47(2):331-9. PMID: 8757001.
      Citations: 45     Fields:    Translation:HumansCells
    393. Gillessen-Kaesbach G, Dobyns WB, Kahn T, Lenard HG, Voit T, Cohn RD. Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. Am J Med Genet. 1996 May 03; 63(1):314-7. PMID: 8723127.
      Citations: 2     Fields:    Translation:Humans
    394. Sanyanusin P, Schimmenti LA, McNoe TA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux. Nat Genet. 1996 May; 13(1):129. PMID: 8673093.
      Citations: 1     Fields:    Translation:HumansCells
    395. Barkovich AJ, Kuzniecky RI, Dobyns WB, Jackson GD, Becker LE, Evrard P. A classification scheme for malformations of cortical development. Neuropediatrics. 1996 Apr; 27(2):59-63. PMID: 8737819.
      Citations: 57     Fields:    Translation:Humans
    396. Dobyns WB, Patton MA, Stratton RF, Mastrobattista JM, Blanton SH, Northrup H. Cobblestone lissencephaly with normal eyes and muscle. Neuropediatrics. 1996 Apr; 27(2):70-5. PMID: 8737821.
      Citations: 9     Fields:    Translation:Humans
    397. Brashear A, Farlow MR, Butler IJ, Kasarskis EJ, Dobyns WB. Variable phenotype of rapid-onset dystonia-parkinsonism. Mov Disord. 1996 Mar; 11(2):151-6. PMID: 8684384.
      Citations: 14     Fields:    Translation:Humans
    398. Dobyns WB. Absence makes the search grow longer. Am J Hum Genet. 1996 Jan; 58(1):7-16. PMID: 8554070; PMCID: PMC1914936.
      Citations: 29     Fields:    Translation:HumansCells
    399. Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet. 1995 Nov 06; 59(2):204-8. PMID: 8588587.
      Citations: 19     Fields:    Translation:Humans
    400. Parano E, Pavone L, Fiumara A, Falsaperla R, Trifiletti RR, Dobyns WB. Congenital muscular dystrophies: clinical review and proposed classification. Pediatr Neurol. 1995 Sep; 13(2):97-103. PMID: 8534290.
      Citations: 6     Fields:    Translation:HumansCells
    401. Phelan MC, Rogers RC, Clarkson KB, Bowyer FP, Levine MA, Estabrooks LL, Severson MC, Dobyns WB. Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. Am J Med Genet. 1995 Jul 31; 58(1):1-7. PMID: 7573148.
      Citations: 18     Fields:    Translation:HumansCells
    402. Ramer JC, Lin AE, Dobyns WB, Winter R, Pallotta R, Ladda RL, Aymé S. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995 Jul 03; 57(3):403-9. PMID: 7545868.
      Citations: 8     Fields:    Translation:HumansCells
    403. Dobyns WB, Truwit CL. Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics. 1995 Jun; 26(3):132-47. PMID: 7477752.
      Citations: 44     Fields:    Translation:HumansCells
    404. Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet. 1995 Apr; 9(4):358-64. PMID: 7795640.
      Citations: 168     Fields:    Translation:HumansAnimalsCells
    405. Dodge NN, Dobyns WB. Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet. 1995 Mar 27; 56(2):147-50. PMID: 7625436.
      Citations: 9     Fields:    Translation:Humans
    406. Selky AK, Dobyns WB, Yee RD. Idiopathic intracranial hypertension and facial diplegia. Neurology. 1994 Feb; 44(2):357. PMID: 8198627.
      Citations: 3     Fields:    Translation:Humans
    407. Olson JC, Konkol RJ, Gill JC, Dobyns WB, Coull BM. Childhood stroke and lupus anticoagulant. Pediatr Neurol. 1994 Feb; 10(1):54-7. PMID: 8198673.
      Citations:    Fields:    Translation:Humans
    408. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA. 1993 Dec 15; 270(23):2838-42. PMID: 7907669.
      Citations: 107     Fields:    Translation:HumansCells
    409. Dobyns WB, Ozelius LJ, Kramer PL, Brashear A, Farlow MR, Perry TR, Walsh LE, Kasarskis EJ, Butler IJ, Breakefield XO. Rapid-onset dystonia-parkinsonism. Neurology. 1993 Dec; 43(12):2596-602. PMID: 8255463.
      Citations: 42     Fields:    Translation:Humans
    410. Wheeler PG, Dobyns WB, Plager DA, Ellis FD. Familial remitting chorea, nystagmus, and cataracts. Am J Med Genet. 1993 Dec 01; 47(8):1215-7. PMID: 8291559.
      Citations:    Fields:    Translation:Humans
    411. Rizzo R, Dobyns WB, Pavone L. Clinical manifestations and evaluation of isolated lissencephaly. Childs Nerv Syst. 1993 Nov; 9(7):387-90. PMID: 8306352.
      Citations: 6     Fields:    Translation:Humans
    412. Wheeler PG, Weaver DD, Dobyns WB. Benign hereditary chorea. Pediatr Neurol. 1993 Sep-Oct; 9(5):337-40. PMID: 8292207.
      Citations: 1     Fields:    Translation:Humans
    413. Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature. 1993 Aug 19; 364(6439):717-21. PMID: 8355785.
      Citations: 329     Fields:    Translation:HumansAnimalsCells
    414. Pranzatelli MR, Kao PC, Tate ED, Chaves E, Chez M, Dobyns WB, Kang H, Rothner DA. Antibodies to ACTH in opsoclonus-myoclonus. Neuropediatrics. 1993 Jun; 24(3):131-3. PMID: 8395029.
      Citations: 1     Fields:    Translation:Humans
    415. Dobyns WB. Classification of the cerebro-oculo-muscular syndrome(s). Commentary to Kimura's paper (pp. 182-91) Brain Dev. 1993 May-Jun; 15(3):242-4. PMID: 8214354.
      Citations: 1     Fields:    Translation:Humans
    416. Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E, Daiger SP, Blanton SH. Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am J Hum Genet. 1992 Oct; 51(4):709-20. PMID: 1415216; PMCID: PMC1682771.
      Citations: 10     Fields:    Translation:HumansCells
    417. Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Causal heterogeneity in isolated lissencephaly. Neurology. 1992 Jul; 42(7):1375-88. PMID: 1620349.
      Citations: 30     Fields:    Translation:Humans
    418. Fischer M, Ryan SB, Dobyns WB. Mechanisms of interhemispheric transfer and patterns of cognitive function in acallosal patients of normal intelligence. Arch Neurol. 1992 Mar; 49(3):271-7. PMID: 1536630.
      Citations: 30     Fields:    Translation:Humans
    419. Ledbetter SA, Kuwano A, Dobyns WB, Ledbetter DH. Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. Am J Hum Genet. 1992 Jan; 50(1):182-9. PMID: 1346078; PMCID: PMC1682541.
      Citations: 21     Fields:    Translation:HumansCells
    420. Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). Am J Hum Genet. 1991 Dec; 49(6):1207-18. PMID: 1746552; PMCID: PMC1686451.
      Citations: 95     Fields:    Translation:HumansCells
    421. Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet. 1991 Oct; 49(4):707-14. PMID: 1897521; PMCID: PMC1683159.
      Citations: 30     Fields:    Translation:HumansCells
    422. Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991 Mar; 48(3):584-94. PMID: 1671808; PMCID: PMC1682996.
      Citations: 46     Fields:    Translation:HumansCells
    423. Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg BP, Dunn DW, Dobyns WB. Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology. 1991 Feb; 41(2 ( Pt 1)):266-71. PMID: 1992373.
      Citations: 12     Fields:    Translation:Humans
    424. Dobyns WB, Garg BP. Vascular abnormalities in epidermal nevus syndrome. Neurology. 1991 Feb; 41(2 ( Pt 1)):276-8. PMID: 1992375.
      Citations: 4     Fields:    Translation:Humans
    425. Batanian JR, Ledbetter SA, Wolff RK, Nakamura Y, White R, Dobyns WB, Ledbetter DH. Rapid diagnosis of Miller-Dieker syndrome and isolated lissencephaly sequence by the polymerase chain reaction. Hum Genet. 1990 Oct; 85(5):555-9. PMID: 2227942.
      Citations: 13     Fields:    Translation:HumansCells
    426. Shapiro ED, Dobyns WB. Polio vaccine and BGS. Neurology. 1990 Apr; 40(4):729. PMID: 2320265.
      Citations:    Fields:    Translation:Humans
    427. Gullotta F, Incorpora G, Grasso S, Dobyns WB, Pavone L. Isolated lissencephaly: report of four patients from two unrelated families. J Child Neurol. 1990 Jan; 5(1):52-9. PMID: 2299140.
      Citations: 7     Fields:    Translation:Humans
    428. Khatri BO, Flamini JR, Baruah JK, Dobyns WB, Konkol RJ. Plasmapheresis with acute inflammatory polyneuropathy. Pediatr Neurol. 1990 Jan-Feb; 6(1):17-9. PMID: 2310433.
      Citations: 1     Fields:    Translation:Humans
    429. D'Cruz OF, Shapiro ED, Spiegelman KN, Leicher CR, Breningstall GN, Khatri BO, Dobyns WB. Acute inflammatory demyelinating polyradiculoneuropathy (Guillain-Barré syndrome) after immunization with Haemophilus influenzae type b conjugate vaccine. J Pediatr. 1989 Nov; 115(5 Pt 1):743-6. PMID: 2809907.
      Citations: 3     Fields:    Translation:HumansCells
    430. Dobyns WB. Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology. 1989 Jun; 39(6):817-20. PMID: 2786166.
      Citations: 19     Fields:    Translation:Humans
    431. Dobyns WB. The neurogenetics of lissencephaly. Neurol Clin. 1989 Feb; 7(1):89-105. PMID: 2646523.
      Citations: 18     Fields:    Translation:HumansCells
    432. Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet. 1989 Feb; 32(2):195-210. PMID: 2494887.
      Citations: 91     Fields:    Translation:Humans
    433. vanTuinen P, Dobyns WB, Rich DC, Summers KM, Robinson TJ, Nakamura Y, Ledbetter DH. Molecular detection of microscopic and submicroscopic deletions associated with Miller-Dieker syndrome. Am J Hum Genet. 1988 Nov; 43(5):587-96. PMID: 3189330; PMCID: PMC1715542.
      Citations: 30     Fields:    Translation:HumansAnimalsCells
    434. Johnson DD, Dobyns WB, Gordon H, Dewald GW. Familial pericentric and paracentric inversions of chromosome 1. Hum Genet. 1988 Aug; 79(4):315-20. PMID: 3410456.
      Citations: 3     Fields:    Translation:HumansCells
    435. Dobyns WB, Michels VV, Groover RV, Mokri B, Trautmann JC, Forbes GS, Laws ER. Familial cavernous malformations of the central nervous system and retina. Ann Neurol. 1987 Jun; 21(6):578-83. PMID: 3606045.
      Citations: 10     Fields:    Translation:Humans
    436. Dobyns WB. Developmental aspects of lissencephaly and the lissencephaly syndromes. Birth Defects Orig Artic Ser. 1987; 23(1):225-41. PMID: 3472611.
      Citations: 21     Fields:    Translation:Humans
    437. Stratton RF, Dobyns WB, Greenberg F, DeSana JB, Moore C, Fidone G, Runge GH, Feldman P, Sekhon GS, Pauli RM, et al. Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. Am J Med Genet. 1986 Jul; 24(3):421-32. PMID: 3728561.
      Citations: 27     Fields:    Translation:HumansCells
    438. Kelley RI, Datta NS, Dobyns WB, Hajra AK, Moser AB, Noetzel MJ, Zackai EH, Moser HW. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am J Med Genet. 1986 Apr; 23(4):869-901. PMID: 3515938.
      Citations: 48     Fields:    Translation:HumansCells
    439. Greenberg F, Stratton RF, Lockhart LH, Elder FF, Dobyns WB, Ledbetter DH. Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17. Am J Med Genet. 1986 Apr; 23(4):853-9. PMID: 3963054.
      Citations: 8     Fields:    Translation:HumansCells
    440. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet. 1985 Sep; 22(1):157-95. PMID: 3931474.
      Citations: 31     Fields:    Translation:Humans
    441. Dobyns WB, Dewald GW, Carlson RO, Mair DD, Michels VV. Deficiency of chromosome 8p21.1----8pter: case report and review of the literature. Am J Med Genet. 1985 Sep; 22(1):125-34. PMID: 3901750.
      Citations: 6     Fields:    Translation:HumansCells
    442. Dobyns WB, Gilbert EF, Opitz JM. Further comments on the lissencephaly syndromes. Am J Med Genet. 1985 Sep; 22(1):197-211. PMID: 3901751.
      Citations: 14     Fields:    Translation:Humans
    443. Dobyns WB, McCluggage CW. Computed tomographic appearance of lissencephaly syndromes. AJNR Am J Neuroradiol. 1985 Jul-Aug; 6(4):545-50. PMID: 3927671; PMCID: PMC8335189.
      Citations: 14     Fields:    Translation:Humans
    444. Dobyns WB, Stratton RF, Greenberg F. Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet. 1984 Jul; 18(3):509-26. PMID: 6476009.
      Citations: 52     Fields:    Translation:HumansCells
    445. Stratton RF, Dobyns WB, Airhart SD, Ledbetter DH. New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13. Hum Genet. 1984; 67(2):193-200. PMID: 6745939.
      Citations: 36     Fields:    Translation:HumansCells
    446. Dobyns WB, Stratton RF, Parke JT, Greenberg F, Nussbaum RL, Ledbetter DH. Miller-Dieker syndrome: lissencephaly and monosomy 17p. J Pediatr. 1983 Apr; 102(4):552-8. PMID: 6834189.
      Citations: 42     Fields:    Translation:HumansCells
    447. Dobyns WB, Gunderson CB, Deering WM. Unsuccessful physostigmine therapy in Reye syndrome. Ann Neurol. 1979 Aug; 6(2):141. PMID: 496413.
      Citations:    Fields:    Translation:Humans
    448. Dobyns WB, Goldstein NP, Gordon H. Clinical spectrum of Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc. 1979 Jan; 54(1):35-42. PMID: 759736.
      Citations: 13     Fields:    Translation:Humans
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