15942875Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N, Childhood Overgrowth CollaborationAmerican journal of human geneticsGrowth Disorders; Intracellular Signaling Peptides and Proteins; Learning Disabilities; Nuclear ProteinsAmino Acid Sequence; Chromosomes, Human, Pair 5; Exons; Facies; Female; Frameshift Mutation; Gene Deletion; Genotype; Histone Methyltransferases; Histone-Lysine N-Methyltransferase; Homozygote; Humans; Male; Molecular Sequence Data; Mutation; Mutation, Missense; Phenotype; Polymorphism, Genetic; Prognosis; Sequence Homology, Amino Acid; Syndrome; Zinc FingersGenotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug; 77(2):193-204.Am J Hum Genet2005-06-07T00:00:002005Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.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 nameOrganizationPersonD000595Genes & Molecular Sequences43920620.7368Amino Acid SequenceD002895Anatomy361080.956979Chromosomes, Human, Pair 5D006130Disorders25630.961683Growth DisordersD006720Living Beings952000.950709HomozygoteD005091Chemicals & Drugs1984500.85669ExonsD008969Concepts & IdeasGenes & Molecular Sequences56030290.690324Molecular Sequence DataD009154Physiology70239520.442648MutationAuthorship 272646Authorship 2726511D011110Physiology2178190.735862Polymorphism, GeneticD005260Physiology1992444050.191167FemaleD006801Living Beings2262862810.130052HumansD013577Disorders2074460.911428SyndromeD017386Concepts & IdeasGenes & Molecular Sequences1834160.921853Sequence Homology, Amino AcidD008297Physiology1931408600.201617Male0.06789130.06789132authors10.2524has subject areaD017353Physiology1973280.888117Gene DeletionD020125Physiology1342760.870252Mutation, MissenseD019066Physiology9270.991645FaciesD011379Procedures74536690.561447PrognosisD016368Physiology34510.98278Frameshift MutationD016335Concepts & Ideas37560.98531Zinc FingersD047908Chemicals & Drugs1833780.829617Intracellular Signaling Peptides and Proteinshttps://genes.uchicago.edu/faculty/darrel-j-waggoner-mdMy departmental websiteD005838Physiology41118500.686726GenotypeD009687Chemicals & Drugs2646940.701812Nuclear ProteinsD010641Physiology64723750.615854PhenotypeD011495Chemicals & Drugs521540.903169Histone-Lysine N-MethyltransferaseHuman GeneticsUniversity of ChicagoSomaDasxGZoGIF1GuTQkntjbwjr93A=Soma Das41.78927490000000-87.601250000000001471Das, SomaProfessorDarrel J.WaggonerDarrel J. Waggoner41.78927490000000-87.601250000000002539Waggoner, Darrel J.Clinical Professortrue1Clinical ProfessorClinical Professortrue1ProfessorProfessor