33894126Jeanne M, Demory H, Moutal A, Vuillaume ML, Blesson S, Thépault RA, Marouillat S, Halewa J, 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, Audebert-Bellanger S, Bonneau D, Colin E, Denommé-Pichon AS, Gilbert-Dussardier B, Isidor B, Küry S, Odent S, Redon R, Khanna R, Dobyns WB, Bézieau S, Honnorat J, Lohkamp B, Toutain A, Laumonnier FAmerican journal of human geneticsAgenesis of Corpus Callosum; Cerebellum; Mutation, Missense; Neurodevelopmental DisordersAdult; Child; Child, Preschool; Female; Humans; Hydrolases; Intellectual Disability; Male; Microtubule-Associated Proteins; Models, Molecular; Tubulin; Young AdultMissense 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.Am J Hum Genet2021-04-23T00:00:002021Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.prns:fullNamefull nameprns:hasAuthorListauthor listprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:hasSubjectAreaMajorTopicListhas major subject area listprns:hasSubjectAreaMinorTopicListhas minor subject area listprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns: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 Identifiervivo:authorRankauthor rank in publicationAuthorshipDepartmentvivo:hasSubjectAreahas subject areavivo:hrJobTitleHR job titleInformation Resourcevivo:informationResourceInAuthorshipauthorsvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD000328Living Beings1578255770.254454AdultD002648Living Beings93969130.440068ChildD002531Anatomy842470.85133CerebellumD002675Living Beings65236080.594978Child, PreschoolD008869Chemicals & Drugs751760.897688Microtubule-Associated ProteinsD006867Chemicals & Drugs21280.984457HydrolasesD008958Concepts & Ideas24512840.706981Models, MolecularD008607Disorders651850.890696Intellectual DisabilityD005260Physiology1992444050.191184FemaleD006801Living Beings2262862810.130064HumansWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201635MaleAuthorship 146112220.2040190.2040191authors10.2516has subject areaD020125Physiology1342760.870272Mutation, MissenseD061085Disorders7250.989128Agenesis of Corpus CallosumD014404Chemicals & Drugs36580.970998TubulinD06588621360.962076Neurodevelopmental DisordersD055815Living Beings97159610.42324Young AdultHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR