D018628Concepts & IdeasG05.380.350680.991685Gene Dosagecmhprofilesont:personsuffixperson suffixFaculty Rankprns:fullNamefull nameprns:hasAuthorListauthor listprns:hasFacultyRankhas faculty rankprns:hasNetworkhas networkprns:hasPublicationVenuepublished inprns:informationResourceReferenceinformation resource referenceprns:isPrimaryPositionis primary positionprns:latitudelatitudeprns:longitudelongitudeprns:mainImagephotoprns:maxWeightmaximum weightprns:medlineTAjournal title abbreviationprns:meshDescriptorUIMeSH DescriptorUIprns:meshSemanticGroupNameMeSH semantic group nameprns:meshTreeNumberMeSH tree numberprns:minWeightminimum weightprns:numberOfAuthorsnumber of authorsprns:numberOfConnectionsnumber of connectionsprns:numberOfPublicationsnumber of publicationsprns:personIdPerson IDprns:personInPrimaryPositionperson in primary positionprns:positionInDepartmentposition in departmentprns:positionInDivisionposition in divisionprns:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentDivisionvivo:hrJobTitleHR job titleInformation Resourcevivo:orcidIdORCID idPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forrdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPerson19778453Matuszek G, Talebizadeh ZBMC medical geneticsMatuszek G, Talebizadeh Z. Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. BMC Med Genet. 2009 Sep 24; 10:102.BMC Med Genet2009-09-24T00:00:002009Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites.20192879Gaedigk A, Gaedigk R, Leeder JSClinical chemistry and laboratory medicineGaedigk A, Gaedigk R, Leeder JS. UGT2B17 and SULT1A1 gene copy number variation (CNV) detection by LabChip microfluidic technology. Clin Chem Lab Med. 2010 May; 48(5):627-33.Clin Chem Lab Med2010-05-01T00:00:002010UGT2B17 and SULT1A1 gene copy number variation (CNV) detection by LabChip microfluidic technology.22044417Gaedigk A, Hernandez J, Garc?a-Solaesa V, S?nchez S, Isidoro-Garc?a MPharmacogenomicsGaedigk A, Hernandez J, Garc?a-Solaesa V, S?nchez S, Isidoro-Garc?a M. Detection and characterization of the CYP2D6*9x2 gene duplication in two Spanish populations: resolution of AmpliChip CYP450 test no-calls. Pharmacogenomics. 2011 Nov; 12(11):1617-22.Pharmacogenomics2011-11-01T00:00:002011Detection and characterization of the CYP2D6*9x2 gene duplication in two Spanish populations: resolution of AmpliChip CYP450 test no-calls.0.9999630.04387876research area of0.5384610.044246612subject area forMD, PhDTomiPastinenTomi Pastinen0.000000000000000.00000000000000113Pastinen, TomiDirector, Center for Pediatric Genomic Medicine MDBradleyWaradyBradley A. Warady0.000000000000000.0000000000000063Warady, BradleyDirector, Division of Pediatric Nephrology 1Professor25893603Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, K?ttgen A, Warady BA, Furth SL, Wong CS, Gharavi AGThe Journal of clinical investigationVerbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, K?ttgen A, Warady BA, Furth SL, Wong CS, Gharavi AG. Genomic imbalances in pediatric patients with chronic kidney disease. J Clin Invest. 2015 May; 125(5):2171-8.J Clin Invest2015-04-20T00:00:002015Genomic imbalances in pediatric patients with chronic kidney disease.PhD, CGCEmilyFarrowEmily G. Farrow0.000000000000000.00000000000000124Farrow, EmilyDirector of Lab OperationsPediatricsResearchClinicalPhD, MSAndreaGaedigkAndrea Gaedigk39.08346750000000-94.577112900000001Gaedigk, Andrea0000-0001-6968-1893Director, Pharmacogenetics Core LaboratoryPharmD, PhDJ. StevenLeederJ. Steven Leeder39.08346750000000-94.5771129000000034Leeder, J. Steven0000-0001-6688-0504Deputy Director, Children's Research InstituteChildren's Mercy Kansas City36669496Chen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D, Hoischen A, Gilissen C, Pastinen T, Eberle MAAmerican journal of human geneticsChen X, Harting J, Farrow E, Thiffault I, Kasperaviciute D, Hoischen A, Gilissen C, Pastinen T, Eberle MA. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing. Am J Hum Genet. 2023 02 02; 110(2):240-250.Am J Hum Genet2023-01-19T00:00:002023Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.true1Director, Division of Pediatric Nephrology Director, Division of Pediatric Nephrology true1Director, Pharmacogenetics Core LaboratoryDirector, Pharmacogenetics Core Laboratorytrue1Director, Center for Pediatric Genomic Medicine Director, Center for Pediatric Genomic Medicine true1Deputy Director, Children's Research InstituteDeputy Director, Children's Research Institutetrue1Director of Lab OperationsDirector of Lab Operations