27240540Di Donato N, Kuechler A, Vergano S, Heinritz W, Bodurtha J, Merchant SR, Breningstall G, Ladda R, Sell S, Altmüller J, Bögershausen N, Timms AE, Hackmann K, Schrock E, Collins S, Olds C, Rump A, Dobyns WBAmerican journal of medical genetics. Part AAbnormalities, Multiple; Actins; Craniofacial Abnormalities; Mutation, MissenseBiomarkers; Brain; Child, Preschool; DNA Mutational Analysis; Exome; Facies; Female; Genetic Association Studies; Heterozygote; High-Throughput Nucleotide Sequencing; Humans; Infant; Magnetic Resonance Imaging; Male; PhenotypeUpdate on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. Am J Med Genet A. 2016 10; 170(10):2644-51.Am J Med Genet A2016-05-30T00:00:002016Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial 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, MultipleD001921Anatomy49222110.472349BrainD002675Living Beings65236080.594942Child, PreschoolD004252Procedures2265260.864587DNA Mutational AnalysisD007223Living Beings60430360.61304InfantD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansD015415Concepts & Ideas59717090.619575BiomarkersWilliamDobynsWilliam B. Dobyns0.000000000000000.000000000000002964Dobyns, WilliamPROFESSOR D008297Physiology1931408600.201617MaleD019465Disorders16360.9717Craniofacial AbnormalitiesD020125Physiology1342760.870252Mutation, MissenseD019066Physiology9270.991645FaciesD056726DisordersProcedures1362940.856523Genetic Association StudiesD059472Genes & Molecular Sequences621270.928717ExomeD059014Procedures2084550.757959High-Throughput Nucleotide SequencingD006579Living Beings1553650.903231HeterozygoteD008279Concepts & IdeasProcedures53033470.417684Magnetic Resonance ImagingD010641Physiology64723750.615854PhenotypeHuman GeneticsUniversity of Chicagotrue1PROFESSOR PROFESSOR Authorship 94863140.1453140.1453141authors10.2519has subject area