D023281OccupationsH01.158.273.180.350H01.158.273.343.35025870.919101Genomicscmhprofilesont: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 nameOrganizationPersonMD, PhDTomiPastinenTomi Pastinen0.000000000000000.00000000000000113Pastinen, TomiDirector, Center for Pediatric Genomic Medicine 3Assistant Professor1Professor4.8520.054100325research area of0.9881150.089006960subject area forPhDScottYoungerScott T. Younger0.000000000000000.00000000000000137Younger, Scott0000-0002-6237-445XDirector of Disease Gene Engineering, Center for Pediatric Genomic MedicinePathology and Laboratory MedicinePediatricsResearchClinicalPharmD, PhDJ. StevenLeederJ. Steven Leeder39.08346750000000-94.5771129000000034Leeder, J. Steven0000-0001-6688-0504Deputy Director, Children's Research InstituteChildren's Mercy Kansas City33238891Hartin SN, Means JC, Alaimo JT, Younger STMolecular medicine (Cambridge, Mass.)Hartin SN, Means JC, Alaimo JT, Younger ST. Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. Mol Med. 2020 11 25; 26(1):117.Mol Med2020-11-25T00:00:002020Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics.PhD, FACMGAnaCohenAna Cohen0.000000000000000.00000000000000209Cohen, AnaAssistant Director Clinical Genome Center35305867Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen TGenetics in medicine : official journal of the American College of Medical GeneticsCohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 06; 24(6):1336-1348.Genet Med2022-03-16T00:00:002022Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.35690684Bonkowsky JL, Pastinen T, White PPediatric researchBonkowsky JL, Pastinen T, White P. The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century. Pediatr Res. 2023 02; 93(3):457-459.Pediatr Res2022-06-11T00:00:002022The post-diagnostics world: charting a path for pediatric genomic medicine in the twenty-first century.36718845Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen TGenetics in medicine : official journal of the American College of Medical GeneticsZion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Insurance denials and diagnostic rates in a pediatric genomic research cohort. Genet Med. 2023 05; 25(5):100020.Genet Med2023-01-28T00:00:002023Insurance denials and diagnostic rates in a pediatric genomic research cohort.true1Assistant Director Clinical Genome CenterAssistant Director Clinical Genome CenterPhDBrookeFridleyBrooke Fridley0.000000000000000.00000000000000222Fridley, BrookeDirector, Biostatistics and Epidemiology Core38253606Groza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen TNature communicationsGroza C, Schwendinger-Schreck C, Cheung WA, Farrow EG, Thiffault I, Lake J, Rizzo WB, Evrony G, Curran T, Bourque G, Pastinen T. Pangenome graphs improve the analysis of structural variants in rare genetic diseases. Nat Commun. 2024 Jan 22; 15(1):657.Nat Commun2024-01-22T00:00:002024Pangenome graphs improve the analysis of structural variants in rare genetic diseases.true1Director, Biostatistics and Epidemiology CoreDirector, Biostatistics and Epidemiology Coretrue1Director of Disease Gene Engineering, Center for Pediatric Genomic MedicineDirector of Disease Gene Engineering, Center for Pediatric Genomic Medicinetrue1Director, Center for Pediatric Genomic Medicine Director, Center for Pediatric Genomic Medicine true1Deputy Director, Children's Research InstituteDeputy Director, Children's Research Institute