D054221DisordersC10.500.507.450.230C10.500.507.450.499.230C16.131.666.507.450.230C16.131.666.507.450.499.230C16.320.322.500.1864130.987741Classical Lissencephalies and Subcortical Band Heterotopiasprns:emailEncryptedemail addressprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonXiaochangZhangXiaochang Zhang41.7886000000000087.598699999999993579Zhang, XiaochangAssistant Professor29671837Di Donato N, Timms AE, Aldinger KA, Mirzaa GM, Bennett JT, Collins S, Olds C, Mei D, Chiari S, Carvill G, Myers CT, Rivière JB, Zaki MS, University of Washington Center for Mendelian Genomics, Gleeson JG, Rump A, Conti V, Parrini E, Ross ME, Ledbetter DH, Guerrini R, Dobyns WBGenetics in medicine : official journal of the American College of Medical GeneticsAnalysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med. 2018 11; 20(11):1354-1364.Genet Med2018-04-19T00:00:002018Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.31585108Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, 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 JGAmerican journal of human geneticsBi-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.Am J Hum Genet2019-10-03T00:00:002019Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.32097630Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, 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 HCNeuronPathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron. 2020 04 22; 106(2):237-245.e8.Neuron2020-02-24T00:00:002020Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.WilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR 34731701Koenig M, Dobyns WB, Di Donato NEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyLissencephaly: Update on diagnostics and clinical management. Eur J Paediatr Neurol. 2021 Nov; 35:147-152.Eur J Paediatr Neurol2021-10-07T00:00:002021Lissencephaly: Update on diagnostics and clinical management.36283405Khalaf-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, Gezdirici A, 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 ELAmerican journal of human geneticsBi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet. 2022 11 03; 109(11):2068-2079.Am J Hum Genet2022-10-24T00:00:002022Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.1.661380.03173114research area of0.9058590.128510subject area forhttps://zhanglaboratory.org/Zhang Labhttps://genes.uchicago.edu/faculty/xiaochang-zhang-phdHuman GeneticsHuman GeneticsUniversity of ChicagoEdenHaverfieldEden Haverfield41.78927490000000-87.601250000000001297Haverfield, EdenSomaDasxGZoGIF1GuTQkntjbwjr93A=Soma Das41.78927490000000-87.601250000000001471Das, SomaProfessortrue1true1Assistant ProfessorAssistant Professortrue1ProfessorProfessortrue1PROFESSOR PROFESSOR