22366783Rivière JB, 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 WBNature geneticsAbnormalities, Multiple; Actins; BrainAdolescent; Adult; Amino Acid Sequence; Base Sequence; Child; Coloboma; Developmental Disabilities; DNA Copy Number Variations; Female; Humans; Intellectual Disability; Male; Molecular Sequence Data; Mutation, Missense; Nervous System Malformations; PAX9 Transcription Factor; Sequence Alignment; Sequence Analysis, DNA; Sequence Deletion; SyndromeDe novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26; 44(4):440-4, S1-2.Nat Genet2012-02-26T00:00:002012De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.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 nameOrganizationPersonD000199Chemicals & Drugs1644480.774703ActinsD000015Disorders842320.867835Abnormalities, MultipleD000293Living Beings111389680.400538AdolescentD000595Genes & Molecular Sequences43920620.7368Amino Acid SequenceD000328Living Beings1578255770.254432AdultD001483Chemicals & DrugsGenes & Molecular Sequences48123290.731399Base SequenceD001921Anatomy49222110.472349BrainD002648Living Beings93969130.440034ChildD002658Disorders631940.865811Developmental DisabilitiesD003103Disorders4120.992567ColobomaD008969Concepts & IdeasGenes & Molecular Sequences56030290.690324Molecular Sequence DataD008607Disorders651850.890678Intellectual DisabilityD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansD013577Disorders2074460.911428SyndromeWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD016415Procedures1893510.914102Sequence AlignmentD009421Disorders8460.963395Nervous System MalformationsD017422Procedures3068530.760396Sequence Analysis, DNAD017384Disorders1292050.92936Sequence DeletionD020125Physiology1342760.870252Mutation, MissenseD056915Physiology991710.899103DNA Copy Number VariationsD051764Chemicals & Drugs220.998464PAX9 Transcription FactorHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 74194320.1081810.1081811authors10.2523has subject area