30311390Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R, ClinGen Inborn Errors of Metabolism Working GroupHuman mutationGenome, Human; Metabolism, Inborn Errors; Phenylalanine HydroxylaseDatabases, Genetic; Gene Frequency; Genetic Testing; Genetic Variation; HumansUnique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018 11; 39(11):1569-1580.Hum Mutat2018-11-01T00:00:002018Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.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:linkAnchorTextlink anchor textvivo:linkedAuthorlinked authorvivo:linkedInformationResourcelinked information resourcePositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titleURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonD005787Concepts & Ideas1706760.840408Gene FrequencyAngelaLagerAngela Lager41.7886000000000087.598699999999993711Lager, AngelaAssistant ProfessorAuthorship 12344770.1718560.1718561authors10.258has subject areaD010651Chemicals & Drugs330.998111Phenylalanine HydroxylaseD006801Living Beings2262862810.130064HumansD014644Phenomena29413490.59631Genetic VariationD030541Concepts & Ideas1312590.881927Databases, GeneticD015894Genes & Molecular Sequences1837560.68676Genome, Humanhttps://cytogenetics-sites.uchicago.edu/page/cancer-cytogenetics-laboratoryThe University of Chicago Cancer Cytogenetics LaboratoryD005820Procedures1725350.724217Genetic TestingD008661Disorders23300.986088Metabolism, Inborn ErrorsPathologyUniversity of Chicagotrue1Assistant ProfessorAssistant Professor