D002658DisordersF03.625.4212226630.686103Developmental DisabilitiesFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns: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:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentDivisionvivo: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 nameOrganizationPerson74Professor47Distinguished Service Professortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessor3.848560.00216568222research area of0.9684370.012626347subject area forDepartment of Molecular & Human GeneticsMolecular & Human GeneticsBaylor College of MedicineJAMESLUPSKIJAMES LUPSKI29.71073630000000-95.396604500000003140LUPSKI, JAMESProfessorHUGOBELLENHUGO BELLEN29.71010310000000-95.397396100000003292BELLEN, HUGODistinguished Service ProfessorSAU WAICHEUNGSAU WAI CHEUNG29.69822590000000-95.35731940000000499CHEUNG, SAU WAIProfessorPAWELSTANKIEWICZPAWEL STANKIEWICZ29.71073630000000-95.39660450000000166STANKIEWICZ, PAWELProfessorSARAHELSEASARAH ELSEA0.000000000000000.000000000000004693ELSEA, SARAHProfessorhttp://flypush.imgen.bcm.tmc.eduBellen Lab Websitetrue1Distinguished Service ProfessorDistinguished Service Professor34920839Hull M, Emrick L, Sadat R, Parnes MParkinsonism & related disordersA case of treatable encephalopathy, developmental regression, and proximal tremor. Parkinsonism Relat Disord. 2021 12; 93:111-113.Parkinsonism Relat Disord2021-12-14T00:00:002021A case of treatable encephalopathy, developmental regression, and proximal tremor.35361529Fielder SM, Rosenfeld JA, Burrage LC, Emrick L, Lalani S, Attali R, Bembenek JN, Hoang H, Baldridge D, Silverman GA, Undiagnosed Diseases Network, Schedl T, Pak SCMolecular genetics and metabolismFunctional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022 05; 136(1):65-73.Mol Genet Metab2022-03-22T00:00:002022Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay.true1ProfessorProfessor36843287Tamma PL, Streff H, Murali CNAmerican journal of medical genetics. Part AA novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome. Am J Med Genet A. 2023 06; 191(6):1576-1580.Am J Med Genet A2023-02-26T00:00:002023A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.37316189Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Turvey SE, Lehman AJournal of medical geneticsDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov; 60(11):1092-1104.J Med Genet2023-06-14T00:00:002023Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.37827158Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, V?llo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M, Undiagnosed Disease Network, Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJAmerican journal of human geneticsRare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies. Am J Hum Genet. 2023 11 02; 110(11):1919-1937.Am J Hum Genet2023-10-11T00:00:002023Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.