21212097Çaliskan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober CHuman molecular geneticsChromosomes, Human, Pair 19; Genetic Diseases, Inborn; Intellectual Disability; Membrane Glycoproteins; Mutation; Oxidoreductases; Synaptic MembranesFemale; Humans; Male; PedigreeExome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 01; 20(7):1285-9.Hum Mol Genet2011-01-06T00:00:002011Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.prns:emailEncryptedemail addressprns: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:mainImagephotoprns: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:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD002888Anatomy32590.970952Chromosomes, Human, Pair 19D008562Chemicals & Drugs1894280.823137Membrane GlycoproteinsD008607Disorders651850.890678Intellectual DisabilityD009154Physiology70239520.442648MutationD010088Chemicals & Drugs531110.953139OxidoreductasesD010375Concepts & Ideas1929660.837406PedigreeD005260Physiology1992444050.191167FemaleAuthorship 4358014Authorship 4357813Authorship 4357911D013570Anatomy14140.995599Synaptic MembranesD006801Living Beings2262862810.130052HumansAuthorship 4358112D008297Physiology1931408600.201617Male0.09996850.09996854authors10.2511has subject areaD030342Disorders551010.929414Genetic Diseases, Inbornhttp://ober.bsd.uchicago.edu/My Lab Sitehttps://genes.uchicago.edu/faculty/darrel-j-waggoner-mdMy departmental websiteHuman GeneticsUniversity of ChicagoSomaDasxGZoGIF1GuTQkntjbwjr93A=Soma Das41.78927490000000-87.601250000000001471Das, SomaProfessorCaroleOber1G1rDrM1DO/RmHllZ0mg9mHvCarole Ober41.78927490000000-87.601250000000001623Ober, CaroleProfessorDarrel J.WaggonerDarrel J. Waggoner41.78927490000000-87.601250000000002539Waggoner, Darrel J.Clinical ProfessorDan LiviuNicolaeDan Liviu Nicolae41.78927490000000-87.60125000000000578Nicolae, Dan LiviuProfessortrue1Clinical ProfessorClinical Professortrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessorStatistics