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Gemma Carvill

TitleAssociate Professor
InstitutionUniversity of Chicago
DepartmentPediatrics
AddressChicago IL 60637
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    Collapse Research 
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    R01NS134938     (CARVILL, GEMMA LOUISE)Jun 1, 2024 - May 31, 2029
    NIH
    Poison exons in epilepsy and neurodevelopment
    Role: Principal Investigator
    R21NS131937     (CARVILL, GEMMA LOUISE)Sep 15, 2023 - Aug 31, 2025
    NIH
    Deep mutational scanning of CHD2 for variant interpretation in neurodevelopmental disorders
    Role: Principal Investigator
    R21NS121572     (CARVILL, GEMMA LOUISE)Sep 15, 2021 - Mar 14, 2023
    NIH
    The role of poison exons in neurodevelopment
    Role: Principal Investigator
    DP2NS111506     (CARVILL, GEMMA LOUISE)Sep 30, 2018 - May 31, 2023
    NIH
    Cell-free DNA sequencing approaches to define the genetic etiology of unexplained epilepsy
    Role: Principal Investigator
    R00NS089858     (CARVILL, GEMMA LOUISE)Sep 30, 2016 - Aug 31, 2019
    NIH
    An epigenomic approach to identifying noncoding mutations in epilepsy
    Role: Principal Investigator
    K99NS089858     (CARVILL, GEMMA LOUISE)Sep 30, 2014 - Jul 31, 2016
    NIH
    An epigenomic approach to identifying noncoding mutations in epilepsy
    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. Calhoun JD, Wang C, Biar CG, Gunti JR, Lee JS, Geller AM, Hong JH, Schnell S, Dang LT, Wang Y, Parent JM, Isom LL, Uhler MD, Mefford HC, Ross ME, Aguiar-Pulido V, Carvill GL. Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1. J Clin Invest. 2026 Sep 17. PMID: 42752354.
      Citations:    
    2. Tidball AM, Luo J, Walker JC, Takla TN, Carvill GL, Parent JM. Genome-wide CRISPRi screen in human iNeurons identifies novel negative mTOR regulator genes associated with focal cortical dysplasia. Neurobiol Dis. 2026 Oct 15; 229:107602. PMID: 42731765.
      Citations:    
    3. Ramamurthy A, Bandouil MD, Aluru L, Joshi O, Yoon E, Bodkin N, Cheng JZ, Biar CG, Calhoun JD, Carvill GL. Analysis of 14q12 microdeletions reveals novel regulatory loci for the neurodevelopmental disorder-related gene FOXG1. Nat Commun. 2026 07 21; 17(1). PMID: 42481467; PMCID: PMC13392037.
      Citations:    Fields:    Translation:HumansAnimalsCells
    4. Biar CG, Wang ZR, Camp ND, Holmes DL, Wheelock MK, Pendyala S, McGee AV, Gupta P, McEwen AE, Tejura M, Richardson ME, Weyandt JD, Coleman T, Rubin AF, Moore N, Stewart R, Zeiberg D, Vandi AJ, Dawson S, Radivojac P, Starita LM, Carvill GL, James RG, Fowler DM, Calhoun JD. An integrated, scaled approach to resolve TSC2 variants of uncertain significance. Nat Commun. 2026 Jul 09; 17(1). PMID: 42425971; PMCID: PMC13478581.
      Citations:    Fields:    
    5. Golinski SR, Soriano K, Briegel AC, Burke MC, Tang S, Carvill GL, Sherrill E, Lentucci C, Yu TW, Nakayama T, Hu R, Smith RS. RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death. Nat Commun. 2026 Apr 29; 17(1). PMID: 42056090; PMCID: PMC13333874.
      Citations:    Fields:    Translation:HumansAnimalsCells
    6. Rakotomamonjy J, Fares-Taie L, Kumar R, Gebert C, Magaña-Hernandez L, Blaszkiewicz A, Benson T, Fairbanks-Santana M, Trejo A, Rogers RC, Mayer C, Chennen K, Poch O, Bardakjian TM, Tropea TF, Gonzalez-Alegre P, Carvill GL, Zhang J, Agarwala S, Jolly LA, Van Bergen NJ, Balasubramaniam S, Ellaway CJ, Christodoulou J, Gecz J, Rozet JM, Guemez-Gamboa A. Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation. medRxiv. 2026 Mar 06. PMID: 41867234; PMCID: PMC13004094.
      Citations:    
    7. Carvill GL, Mefford HC. Toward a Disease-Modifying Therapy for Dravet Syndrome. N Engl J Med. 2026 Mar 05; 394(10):1022-1025. PMID: 41780007.
      Citations:    Fields:    
    8. Kashima DT, Yoon E, Carvill GL, Laux LC. Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series. J Child Neurol. 2026 10; 41(9):1331-1335. PMID: 41564166; PMCID: PMC13591556.
      Citations:    Fields:    
    9. Biar CG, Wang ZR, Camp ND, Holmes DL, Wheelock MK, Pendyala S, McGee AV, Gupta P, McEwen AE, Tejura M, Richardson ME, Weyandt JD, Coleman T, Stewart R, Zeiberg D, Vandi AJ, Dawson S, Radivojac P, Starita LM, Carvill GL, James RG, Fowler DM, Calhoun JD. An integrated, scaled approach to resolve TSC2 variants of uncertain significance. bioRxiv. 2026 Jan 18. PMID: 41648336; PMCID: PMC12871146.
      Citations:    
    10. Brooker SM, Novelli M, Coukos R, Prakash N, Kamel WA, Amengual-Gual M, Anheim M, Barcia G, Bardakjian T, Baur F, Berweck S, Bölsterli BK, Brugger M, Cassini T, Chatron N, Corner B, Dafsari HS, de Sainte Agathe JM, Ellis CA, Ezell KM, Foucard C, Frucht SJ, Garcia MC, Gill D, Guimier A, Hamid R, Heine-Suñer D, Herkenrath P, Hully M, Isaias IU, Januel L, Laurencin C, Laut T, Lavillaureix A, Lesca G, Lesieur-Sebellin M, Magistrelli L, Marelli C, Mefford HC, Mendelsohn BA, Mercimek-Andrews S, Miller C, Mohammad SS, Morgante F, Nandipati S, Opladen T, Padmanaban M, Pauni M, Pezzoli G, Piton A, Ramond F, Riboldi GM, Rougeot-Jung C, Santos-Simarro F, Scheffer IE, Serari N, Stahl CM, Kung AS, Tarongí Sanchez S, Thauvin-Robinet C, Till M, Tranchant C, Troedson C, Tropea TF, Vanakker O, Vega P, Wiese ML, Wieshmann U, Williams LJ, Wirth T, Zech M, Zempel H, Roze E, Leuzzi V, Galosi S, Fung VSC, Carvill G, Krainc D, Gerard E, Mencacci NE. The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series. Ann Neurol. 2025 09; 98(3):561-572. PMID: 40590478; PMCID: PMC12221205.
      Citations: 1     Fields:    Translation:Humans
    11. Biar CG, Bodkin N, Carvill GL, Calhoun JD. Protocol to perform multiplexed assays of variant effect using curated loci prime editing. STAR Protoc. 2025 Jun 20; 6(2):103851. PMID: 40418630; PMCID: PMC12159904.
      Citations:    Fields:    Translation:Humans
    12. Carvill GL. Zombie neurons in epilepsy: a burgeoning role for senescence in drug-resistant epilepsy. J Clin Invest. 2025 Mar 03; 135(5). PMID: 40026249; PMCID: PMC11870726.
      Citations:    Fields:    Translation:HumansAnimalsCells
    13. Tang S, Stamberger H, Calhoun JD, Weckhuysen S, Carvill GL. Antisense oligonucleotides modulate aberrant inclusion of poison exons in SCN1A-related Dravet syndrome. JCI Insight. 2025 02 13; 10(7). PMID: 39946203; PMCID: PMC11981616.
      Citations: 6     Fields:    Translation:HumansCells
    14. Biar CG, Bodkin N, Carvill GL, Calhoun JD. Curated loci prime editing (cliPE) for accessible multiplexed assays of variant effect (MAVEs). ArXiv. 2025 Jan 08. PMID: 39867423; PMCID: PMC11759852.
      Citations:    
    15. Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'Leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. N Engl J Med. 2024 10 24; 391(16):1511-1518. PMID: 39442041; PMCID: PMC11826417.
      Citations: 21     Fields:    Translation:Humans
    16. Prince S, Bonkowski E, McGraw C, SanInocencio C, Mefford HC, Carvill G, Broadbent B. A roadmap to cure CHD2-related disorders. Ther Adv Rare Dis. 2024 Jan-Dec; 5:26330040241283749. PMID: 39391213; PMCID: PMC11465304.
      Citations: 3     
    17. LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Allan TJ, Zalusky MP, Goffena J, Gibson SB, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel MN, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Gupta S, Jones EA, Weisz-Hubshman M, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Undiagnosed Diseases Network, Neale G, Carvill GL, University of Washington Center for Rare Disease Research, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement. Nat Commun. 2024 Aug 06; 15(1):6524. PMID: 39107278; PMCID: PMC11303402.
      Citations: 13     Fields:    Translation:HumansCells
    18. Biar CG, Pfeifer C, Carvill GL, Calhoun JD. Multimodal framework to resolve variants of uncertain significance in TSC2. bioRxiv. 2024 Jun 08. PMID: 38895336; PMCID: PMC11185720.
      Citations:    
    19. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao ??? HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jun 06; 111(6):1239. PMID: 38723631; PMCID: PMC11179399.
      Citations:    Fields:    
    20. Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA, Underhill HR, Gimenez G, Namba T, Robertson SP. Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase. Am J Hum Genet. 2024 04 04; 111(4):729-741. PMID: 38579670; PMCID: PMC11023914.
      Citations: 5     Fields:    Translation:HumansAnimals
    21. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Perne C, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Banos-Pinero B, Pagnamenta AT, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Apr 04; 111(4):805. PMID: 38508193; PMCID: PMC11023915.
      Citations:    Fields:    
    22. Ganesh VS, Riquin K, Chatron N, Lamar KM, Aziz MC, Monin P, O'Leary M, Goodrich JK, Garimella KV, England E, Yoon E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Undiagnosed Diseases Network, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Isidor B, Pengam A, Cogné B, MacArthur DG, Ulitsky I, Carvill GL, O'Donnell-Luria A. Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA. medRxiv. 2024 Feb 07. PMID: 38496558; PMCID: PMC10942497.
      Citations:    
    23. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denommé-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Undiagnosed Diseases Network, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118. PMID: 38181735; PMCID: PMC10806447.
      Citations: 9     Fields:    Translation:HumansAnimals
    24. Tidball AM, Luo J, Walker JC, Takla TN, Carvill GL, Parent JM. Genome-wide CRISPRi Screen in Human iNeurons to Identify Novel Focal Cortical Dysplasia Genes. bioRxiv. 2023 Dec 13. PMID: 38168415; PMCID: PMC10760100.
      Citations:    
    25. LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT, Undiagnosed Diseases Network, Neale G, Carvill GL, University of Washington Center for Rare Disease Research, Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. medRxiv. 2023 Oct 12. PMID: 37873138; PMCID: PMC10592992.
      Citations:    
    26. Ramamurthy A, Carvill GL. Raptor Preys on mTOR Imbalance in Tuberous Sclerosis. Epilepsy Curr. 2023 May-Jun; 23(3):193-195. PMID: 37334409; PMCID: PMC10273816.
      Citations:    
    27. Happ HC, Schneider PN, Hong JH, Goes E, Bandouil M, Biar CG, Ramamurthy A, Reese F, Engel K, Weckhuysen S, Scheffer IE, Mefford HC, Calhoun JD, Carvill GL. Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an SCN1A poison exon in epilepsy. bioRxiv. 2023 May 04. PMID: 37205386; PMCID: PMC10187291.
      Citations:    
    28. Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT. Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy. medRxiv. 2023 Mar 29. PMID: 37034625; PMCID: PMC10081396.
      Citations:    
    29. Zhang H, Alarcon C, Cavallari LH, Nutescu E, Carvill GL, Perera MA, Hernandez W. Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans. Clin Pharmacol Ther. 2023 03; 113(3):624-633. PMID: 36507737; PMCID: PMC11238476.
      Citations: 1     Fields:    Translation:Humans
    30. Esterhuizen AI, Tiffin N, Riordan G, Wessels M, Burman RJ, Aziz MC, Calhoun JD, Gunti J, Amiri EE, Ramamurthy A, Bamshad MJ, University of Washington Centre for Mendelian Genomics (UW-CMG), Mefford HC, Ramesar R, Wilmshurst JM, Carvill GL. Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting. Genet Med. 2023 02; 25(2):100333. PMID: 36480001.
      Citations: 6     Fields:    Translation:Humans
    31. Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedlácková L, Šterbová K, Vlcková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. Neurology. 2023 02 07; 100(6):e603-e615. PMID: 36307226; PMCID: PMC9946193.
      Citations: 12     Fields:    Translation:Humans
    32. Van Loo KMJ, Carvill GL, Becker AJ, Conboy K, Goldman AM, Kobow K, Lopes-Cendes I, Reid CA, van Vliet EA, Henshall DC. Epigenetic genes and epilepsy - emerging mechanisms and clinical applications. Nat Rev Neurol. 2022 09; 18(9):530-543. PMID: 35859062.
      Citations: 28     Fields:    Translation:HumansCells
    33. Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion. Brain. 2022 06 30; 145(6):1939-1948. PMID: 35773235; PMCID: PMC9630660.
      Citations: 4     Fields:    Translation:Humans
    34. Demarest S, Calhoun J, Eschbach K, Yu HC, Mirsky D, Angione K, Shaikh TH, Carvill GL, Benke TA, WES Support Group. Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms. Dev Med Child Neurol. 2022 05; 64(5):633-640. PMID: 35830182.
      Citations: 4     Fields:    Translation:Humans
    35. Zhang DY, Gould A, Happ HC, Youngblood MW, Dmello C, Kang SJ, Canney M, Stupp R, Carvill GL, Sonabend AM. Ultrasound-mediated blood-brain barrier opening increases cell-free DNA in a time-dependent manner. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab165. PMID: 34993480; PMCID: PMC8717890.
      Citations: 11     
    36. Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. Am J Hum Genet. 2021 Nov 04; 108(11):2206. PMID: 34739836; PMCID: PMC8595928.
      Citations: 2     Fields:    
    37. Carvill GL, Matheny T, Hesselberth J, Demarest S. Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology. Neurotherapeutics. 2021 07; 18(3):1500-1514. PMID: 34648141; PMCID: PMC8608973.
      Citations: 23     Fields:    Translation:Humans
    38. Cheng JZ, Carvill GL. Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders. Brain. 2021 09 04; 144(8):2237-2239. PMID: 34283886.
      Citations: 4     Fields:    Translation:Humans
    39. Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Õunap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders. Am J Hum Genet. 2021 09 02; 108(9):1692-1709. PMID: 34375587; PMCID: PMC8456161.
      Citations: 25     Fields:    Translation:HumansCells
    40. Spinelli E, Christensen KR, Bryant E, Schneider A, Rakotomamonjy J, Muir AM, Giannelli J, Littlejohn RO, Roeder ER, Schmidt B, Wilson WG, Marco EJ, Iwama K, Kumada S, Pisano T, Barba C, Vetro A, Brilstra EH, van Jaarsveld RH, Matsumoto N, Goldberg-Stern H, Carney PW, Andrews PI, El Achkar CM, Berkovic S, Rodan LH, Undiagnosed Diseases Network (UDN), McWalter K, Guerrini R, Scheffer IE, Mefford HC, Mandelstam S, Laux L, Millichap JJ, Guemez-Gamboa A, Nairn AC, Carvill GL. Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy. Ann Neurol. 2021 08; 90(2):274-284. PMID: 34185323; PMCID: PMC8324566.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    41. Carvill GL, Jansen S, Lacroix A, Zemel M, Mehaffey M, De Vries P, Brunner HG, Scheffer IE, De Vries BBA, Vissers LELM, Mefford HC. Genetic convergence of developmental and epileptic encephalopathies and intellectual disability. Dev Med Child Neurol. 2021 12; 63(12):1441-1447. PMID: 34247411.
      Citations: 1     Fields:    Translation:Humans
    42. Aziz MC, Schneider PN, Carvill GL. Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy. Dev Neurosci. 2021; 43(3-4):241-246. PMID: 33971653.
      Citations: 8     Fields:    Translation:HumansAnimals
    43. Mencacci NE, Brockmann MM, Dai J, Pajusalu S, Atasu B, Campos J, Pino G, Gonzalez-Latapi P, Patzke C, Schwake M, Tucci A, Pittman A, Simon-Sanchez J, Carvill GL, Balint B, Wiethoff S, Warner TT, Papandreou A, Soo A, Rein R, Kadastik-Eerme L, Puusepp S, Reinson K, Tomberg T, Hanagasi H, Gasser T, Bhatia KP, Kurian MA, Lohmann E, Õunap K, Rosenmund C, Südhof TC, Wood NW, Krainc D, Acuna C. Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia. J Clin Invest. 2021 04 01; 131(7). PMID: 33539324; PMCID: PMC8011894.
      Citations: 15     Fields:    Translation:HumansAnimalsCells
    44. Myers KA, Marini C, Carvill GL, McTague A, Panetta J, Stutterd C, Stanley T, Marin S, Nguyen J, Barba C, Rosati A, Scott RH, Mefford HC, Guerrini R, Scheffer IE. Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurol Genet. 2021 Apr; 7(2):e579. PMID: 33912662; PMCID: PMC8075573.
      Citations: 10     
    45. Lamar KJ, Carvill GL. Free as a BRD4: Bromodomain Inhibition Ameliorates Disease Phenotypes in a Model of MECP2 Deficiency and Is a Potential Therapy for Rett Syndrome. Epilepsy Curr. 2020 Nov-Dec; 20(6):390-392. PMID: 34025262; PMCID: PMC7818197.
      Citations: 1     
    46. Carvill GL, Mefford HC. Poison exons in neurodevelopment and disease. Curr Opin Genet Dev. 2020 12; 65:98-102. PMID: 32615329; PMCID: PMC8042789.
      Citations: 37     Fields:    Translation:HumansAnimalsCells
    47. Calhoun JD, Carvill GL. Epilepsy Genetics: What Once Was Rare, Is Now Common. Epilepsy Curr. 2020 Jul-Aug; 20(4):221-223. PMID: 34025233; PMCID: PMC7427164.
      Citations: 2     
    48. Calhoun JD, Huffman AM, Bellinski I, Kinsley L, Bachman E, Gerard E, Kearney JA, Carvill GL. CACNA1H variants are not a cause of monogenic epilepsy. Hum Mutat. 2020 06; 41(6):1138-1144. PMID: 32227660; PMCID: PMC7301766.
      Citations: 13     Fields:    Translation:HumansAnimals
    49. Bryant EM, Millichap JJ, Spinelli E, Calhoun JD, Miller C, Giannelli J, Wolak J, Sanders V, Carvill GL, Charrow J. Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation. Am J Med Genet A. 2020 06; 182(6):1460-1465. PMID: 32267060.
      Citations: 3     Fields:    Translation:Humans
    50. Carvill GL, Helbig KL, Myers CT, Scala M, Huether R, Lewis S, Kruer TN, Guida BS, Bakhtiari S, Sebe J, Tang S, Stickney H, Oktay SU, Bhandiwad AA, Ramsey K, Narayanan V, Feyma T, Rohena LO, Accogli A, Severino M, Hollingsworth G, Gill D, Depienne C, Nava C, Sadleir LG, Caruso PA, Lin AE, Jansen FE, Koeleman B, Brilstra E, Willemsen MH, Kleefstra T, Sa J, Mathieu ML, Perrin L, Lesca G, Striano P, Casari G, Scheffer IE, Raible D, Sattlegger E, Capra V, Padilla-Lopez S, Mefford HC, Kruer MC. Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy. Hum Mutat. 2020 07; 41(7):1263-1279. PMID: 32196822; PMCID: PMC7292794.
      Citations: 22     Fields:    Translation:HumansCells
    51. Kobow K, Reid CA, van Vliet EA, Becker AJ, Carvill GL, Goldman AM, Hirose S, Lopes-Cendes I, Khiari HM, Poduri A, Johnson MR, Henshall DC. Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force. Epileptic Disord. 2020 Apr 01; 22(2):127-141. PMID: 32301721.
      Citations: 10     Fields:    Translation:Humans
    52. Happ HC, Carvill GL. A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies. Epilepsy Curr. 2020 Mar; 20(2):90-96. PMID: 32166973; PMCID: PMC7160871.
      Citations: 33     
    53. Wren LM, Jiménez-Jáimez J, Al-Ghamdi S, Al-Aama JY, Bdeir A, Al-Hassnan ZN, Kuan JL, Foo RY, Potet F, Johnson CN, Aziz MC, Carvill GL, Kaski JP, Crotti L, Perin F, Monserrat L, Burridge PW, Schwartz PJ, Chazin WJ, Bhuiyan ZA, George AL. Genetic Mosaicism in Calmodulinopathy. Circ Genom Precis Med. 2019 09; 12(9):375-385. PMID: 31454269; PMCID: PMC6751013.
      Citations: 24     Fields:    Translation:HumansCells
    54. Carvill GL, Dulla CG, Lowenstein DH, Brooks-Kayal AR. The path from scientific discovery to cures for epilepsy. Neuropharmacology. 2020 05 01; 167:107702. PMID: 31301334.
      Citations: 13     Fields:    Translation:HumansAnimals
    55. Gertler TS, Carvill GL. SCN8A: When Neurons Are So Excited, They Just Can't Hide It. Epilepsy Curr. 2019 Jul-Aug; 19(4):269-271. PMID: 31288536; PMCID: PMC6891829.
      Citations: 6     
    56. Truty R, Patil N, Sankar R, Sullivan J, Millichap J, Carvill G, Entezam A, Esplin ED, Fuller A, Hogue M, Johnson B, Khouzam A, Kobayashi Y, Lewis R, Nykamp K, Riethmaier D, Westbrook J, Zeman M, Nussbaum RL, Aradhya S. Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy. Epilepsia Open. 2019 Sep; 4(3):397-408. PMID: 31440721; PMCID: PMC6698688.
      Citations: 54     Fields:    
    57. Carvill GL. Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E. Epilepsy Curr. 2019 May-Jun; 19(3):199-201. PMID: 31064215; PMCID: PMC6610379.
      Citations: 13     
    58. Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G, Deciphering Developmental Disorders Study, UK10K Consortium, NIHR BioResource, Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019 05 02; 104(5):948-956. PMID: 30982612; PMCID: PMC6507039.
      Citations: 35     Fields:    Translation:HumansCells
    59. Cowley MJ, Liu YC, Oliver KL, Carvill G, Myers CT, Gayevskiy V, Delatycki M, Vlaskamp DRM, Zhu Y, Mefford H, Buckley MF, Bahlo M, Scheffer IE, Dinger ME, Roscioli T. Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection. Hum Mutat. 2019 04; 40(4):374-379. PMID: 30556619; PMCID: PMC6492103.
      Citations: 6     Fields:    Translation:Humans
    60. Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J, EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group, Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies. Am J Hum Genet. 2018 12 06; 103(6):1022-1029. PMID: 30526861; PMCID: PMC6288405.
      Citations: 65     Fields:    Translation:HumansCells
    61. Calhoun JD, Carvill GL. Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era. J Neurogenet. 2018 12; 32(4):295-312. PMID: 30247086.
      Citations: 5     Fields:    Translation:Humans
    62. Esterhuizen AI, Mefford HC, Ramesar RS, Wang S, Carvill GL, Wilmshurst JM. Dravet syndrome in South African infants: Tools for an early diagnosis. Seizure. 2018 Nov; 62:99-105. PMID: 30321769; PMCID: PMC6261486.
      Citations: 5     Fields:    Translation:Humans
    63. Lamar KJ, Carvill GL. Chromatin Remodeling Proteins in Epilepsy: Lessons From CHD2-Associated Epilepsy. Front Mol Neurosci. 2018; 11:208. PMID: 29962935; PMCID: PMC6013553.
      Citations: 33     
    64. Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC, Victorian Severe Epilepsy of Infancy Study Group, Scheffer IE, Harvey AS. A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy. Epilepsia. 2018 06; 59(6):1177-1187. PMID: 29750358; PMCID: PMC5990455.
      Citations: 52     Fields:    Translation:Humans
    65. Esterhuizen AI, Carvill GL, Ramesar RS, Kariuki SM, Newton CR, Poduri A, Wilmshurst JM. Clinical Application of Epilepsy Genetics in Africa: Is Now the Time? Front Neurol. 2018; 9:276. PMID: 29770117; PMCID: PMC5940732.
      Citations: 21     
    66. Chatron N, Møller RS, Champaigne NL, Schneider AL, Kuechler A, Labalme A, Simonet T, Baggett L, Bardel C, Kamsteeg EJ, Pfundt R, Romano C, Aronsson J, Alberti A, Vinci M, Miranda MJ, Lacroix A, Marjanovic D, des Portes V, Edery P, Wieczorek D, Gardella E, Scheffer IE, Mefford H, Sanlaville D, Carvill GL, Lesca G. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Ann Neurol. 2018 05; 83(5):926-934. PMID: 29630738; PMCID: PMC6021218.
      Citations: 17     Fields:    Translation:Humans
    67. Myers CT, Hollingsworth G, Muir AM, Schneider AL, Thuesmunn Z, Knupp A, King C, Lacroix A, Mehaffey MG, Berkovic SF, Carvill GL, Sadleir LG, Scheffer IE, Mefford HC. Parental Mosaicism in "De Novo" Epileptic Encephalopathies. N Engl J Med. 2018 04 26; 378(17):1646-1648. PMID: 29694806; PMCID: PMC5966016.
      Citations: 65     Fields:    Translation:Humans
    68. 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: 49     Fields:    Translation:Humans
    69. Johannesen KM, Gardella E, Linnankivi T, Courage C, de Saint Martin A, Lehesjoki AE, Mignot C, Afenjar A, Lesca G, Abi-Warde MT, Chelly J, Piton A, Merritt JL, Rodan LH, Tan WH, Bird LM, Nespeca M, Gleeson JG, Yoo Y, Choi M, Chae JH, Czapansky-Beilman D, Reichert SC, Pendziwiat M, Verhoeven JS, Schelhaas HJ, Devinsky O, Christensen J, Specchio N, Trivisano M, Weber YG, Nava C, Keren B, Doummar D, Schaefer E, Hopkins S, Dubbs H, Shaw JE, Pisani L, Myers CT, Tang S, Tang S, Pal DK, Millichap JJ, Carvill GL, Helbig KL, Mecarelli O, Striano P, Helbig I, Rubboli G, Mefford HC, Møller RS. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia. 2018 02; 59(2):389-402. PMID: 29315614; PMCID: PMC5912688.
      Citations: 70     Fields:    Translation:Humans
    70. Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018 01; 26(1):54-63. PMID: 29209020; PMCID: PMC5839042.
      Citations: 29     Fields:    Translation:Humans
    71. Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE. Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. Epilepsia. 2018 01; 59(1):e5-e13. PMID: 29171013; PMCID: PMC5760358.
      Citations: 28     Fields:    Translation:Humans
    72. Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA, DDD Study, Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE. Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. Neurology. 2017 Sep 05; 89(10):1035-1042. PMID: 28794249; PMCID: PMC5589790.
      Citations: 60     Fields:    Translation:Humans
    73. Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. Neurology. 2016 Nov 08; 87(19):1975-1984. PMID: 27733563; PMCID: PMC5109949.
      Citations: 46     Fields:    Translation:HumansAnimalsCells
    74. Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P. Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. Eur J Hum Genet. 2016 12; 24(12):1761-1770. PMID: 27352968; PMCID: PMC5117930.
      Citations: 24     Fields:    Translation:Humans
    75. Djémié T, Weckhuysen S, von Spiczak S, Carvill GL, Jaehn J, Anttonen AK, Brilstra E, Caglayan HS, de Kovel CG, Depienne C, Gaily E, Gennaro E, Giraldez BG, Gormley P, Guerrero-López R, Guerrini R, Hämäläinen E, Hartmann C, Hernandez-Hernandez L, Hjalgrim H, Koeleman BP, Leguern E, Lehesjoki AE, Lemke JR, Leu C, Marini C, McMahon JM, Mei D, Møller RS, Muhle H, Myers CT, Nava C, Serratosa JM, Sisodiya SM, Stephani U, Striano P, van Kempen MJ, Verbeek NE, Usluer S, Zara F, Palotie A, Mefford HC, Scheffer IE, De Jonghe P, Helbig I, Suls A, EuroEPINOMICS-RES Dravet working group. Pitfalls in genetic testing: the story of missed SCN1A mutations. Mol Genet Genomic Med. 2016 Jul; 4(4):457-64. PMID: 27465585; PMCID: PMC4947864.
      Citations: 32     Fields:    
    76. Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC. A targeted resequencing gene panel for focal epilepsy. Neurology. 2016 Apr 26; 86(17):1605-12. PMID: 27029629; PMCID: PMC4844234.
      Citations: 28     Fields:    Translation:Humans
    77. Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. Neurology. 2016 Feb 23; 86(8):713-22. PMID: 26802095; PMCID: PMC4763801.
      Citations: 13     Fields:    Translation:Humans
    78. Lugtenberg D, Reijnders MR, Fenckova M, Bijlsma EK, Bernier R, van Bon BW, Smeets E, Vulto-van Silfhout AT, Bosch D, Eichler EE, Mefford HC, Carvill GL, Bongers EM, Schuurs-Hoeijmakers JH, Ruivenkamp CA, Santen GW, van den Maagdenberg AM, Peeters-Scholte CM, Kuenen S, Verstreken P, Pfundt R, Yntema HG, de Vries PF, Veltman JA, Hoischen A, Gilissen C, de Vries BB, Schenck A, Kleefstra T, Vissers LE. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. Eur J Hum Genet. 2016 08; 24(8):1145-53. PMID: 26757981; PMCID: PMC4970694.
      Citations: 26     Fields:    Translation:HumansAnimals
    79. Carvill GL, Mefford HC. Next-Generation Sequencing in Intellectual Disability. J Pediatr Genet. 2015 Sep; 4(3):128-35. PMID: 27617123; PMCID: PMC4918717.
      Citations: 14     
    80. Howell KB, McMahon JM, Carvill GL, Tambunan D, Mackay MT, Rodriguez-Casero V, Webster R, Clark D, Freeman JL, Calvert S, Olson HE, Mandelstam S, Poduri A, Mefford HC, Harvey AS, Scheffer IE. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Neurology. 2015 Sep 15; 85(11):958-66. PMID: 26291284; PMCID: PMC4567464.
      Citations: 103     Fields:    Translation:Humans
    81. Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC. Epileptic spasms are a feature of DEPDC5 mTORopathy. Neurol Genet. 2015 Aug; 1(2):e17. PMID: 27066554; PMCID: PMC4807908.
      Citations: 33     
    82. Møller RS, Heron SE, Larsen LH, Lim CX, Ricos MG, Bayly MA, van Kempen MJ, Klinkenberg S, Andrews I, Kelley K, Ronen GM, Callen D, McMahon JM, Yendle SC, Carvill GL, Mefford HC, Nabbout R, Poduri A, Striano P, Baglietto MG, Zara F, Smith NJ, Pridmore C, Gardella E, Nikanorova M, Dahl HA, Gellert P, Scheffer IE, Gunning B, Kragh-Olsen B, Dibbens LM. Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia. 2015 Sep; 56(9):e114-20. PMID: 26122718; PMCID: PMC5915334.
      Citations: 70     Fields:    Translation:Humans
    83. Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Møller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, EuroEPINOMICS Rare Epilepsy Syndrome Myoclonic-Astatic Epilepsy & Dravet working group, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet. 2015 May 07; 96(5):808-15. PMID: 25865495; PMCID: PMC4570550.
      Citations: 106     Fields:    Translation:HumansAnimals
    84. Paemka L, Mahajan VB, Ehaideb SN, Skeie JM, Tan MC, Wu S, Cox AJ, Sowers LP, Gecz J, Jolly L, Ferguson PJ, Darbro B, Schneider A, Scheffer IE, Carvill GL, Mefford HC, El-Shanti H, Wood SA, Manak JR, Bassuk AG. Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. PLoS Genet. 2015 Mar; 11(3):e1005022. PMID: 25763846; PMCID: PMC4357451.
      Citations: 51     Fields:    Translation:HumansAnimals
    85. Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE, EuroEPINOMICS RES Consortium. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology. 2015 Mar 03; 84(9):951-8. PMID: 25672921; PMCID: PMC4351660.
      Citations: 37     Fields:    Translation:Humans
    86. Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djémié T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Møller RS, EuroEPINOMICS RES Consortium CRP. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 2015 Feb 03; 84(5):480-9. PMID: 25568300; PMCID: PMC4336074.
      Citations: 136     Fields:    Translation:Humans
    87. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014 10; 46(10):1063-71. PMID: 25217958; PMCID: PMC4177294.
      Citations: 355     Fields:    Translation:HumansCells
    88. Vulto-van Silfhout AT, Rajamanickam S, Jensik PJ, Vergult S, de Rocker N, Newhall KJ, Raghavan R, Reardon SN, Jarrett K, McIntyre T, Bulinski J, Ownby SL, Huggenvik JI, McKnight GS, Rose GM, Cai X, Willaert A, Zweier C, Endele S, de Ligt J, van Bon BW, Lugtenberg D, de Vries PF, Veltman JA, van Bokhoven H, Brunner HG, Rauch A, de Brouwer AP, Carvill GL, Hoischen A, Mefford HC, Eichler EE, Vissers LE, Menten B, Collard MW, de Vries BB. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. Am J Hum Genet. 2014 May 01; 94(5):649-61. PMID: 24726472; PMCID: PMC4067565.
      Citations: 40     Fields:    Translation:HumansAnimalsCells
    89. Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology. 2014 Apr 08; 82(14):1245-53. PMID: 24623842; PMCID: PMC4001207.
      Citations: 130     Fields:    Translation:Humans
    90. Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R, WGS500 Consortium, Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet. 2014 Jun 15; 23(12):3200-11. PMID: 24463883; PMCID: PMC4030775.
      Citations: 129     Fields:    Translation:HumansCells
    91. Yu L, Bennett JT, Wynn J, Carvill GL, Cheung YH, Shen Y, Mychaliska GB, Azarow KS, Crombleholme TM, Chung DH, Potoka D, Warner BW, Bucher B, Lim FY, Pietsch J, Stolar C, Aspelund G, Arkovitz MS, University of Washington Center for Mendelian Genomics, Mefford H, Chung WK. Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. J Med Genet. 2014 Mar; 51(3):197-202. PMID: 24385578; PMCID: PMC3955383.
      Citations: 43     Fields:    Translation:HumansCells
    92. Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders. PLoS One. 2013; 8(12):e80737. PMID: 24312498; PMCID: PMC3849077.
      Citations: 29     Fields:    Translation:HumansAnimalsCells
    93. Mullen SA, Carvill GL, Bellows S, Bayly MA, Trucks H, Lal D, Sander T, Berkovic SF, Dibbens LM, Scheffer IE, Mefford HC. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. Neurology. 2013 10 22; 81(17):1507-14. PMID: 24068782; PMCID: PMC3888172.
      Citations: 68     Fields:    Translation:HumansCells
    94. Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, Damiano JA, Berkovic SF, Shendure J, Hildebrand MS, Szepetowski P, Scheffer IE, Mefford HC. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet. 2013 Sep; 45(9):1073-6. PMID: 23933818; PMCID: PMC3868952.
      Citations: 170     Fields:    Translation:Humans
    95. Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Møller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 2013 Jul; 45(7):825-30. PMID: 23708187; PMCID: PMC3704157.
      Citations: 349     Fields:    Translation:Humans
    96. Carvill GL, Mefford HC. Microdeletion syndromes. Curr Opin Genet Dev. 2013 Jun; 23(3):232-9. PMID: 23664828.
      Citations: 22     Fields:    Translation:Humans
    97. O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21; 338(6114):1619-22. PMID: 23160955; PMCID: PMC3528801.
      Citations: 728     Fields:    Translation:Humans
    98. Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009 May; 41(5):535-43. PMID: 19377476; PMCID: PMC2872007.
      Citations: 308     Fields:    Translation:HumansCells
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