D055106ProceduresE05.318.416.249E05.318.780.392E05.393.385.500E05.393.522.500E05.393.760.640.500N06.850.520.445.392N06.850.520.470.500201830.918005Genome-Wide Association Studycmhprofilesont: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 2Associate Professor1Professor28126036Ecker S, Chen L, Pancaldi V, Bagger FO, Fern?ndez JM, Carrillo de Santa Pau E, Juan D, Mann AL, Watt S, Casale FP, Sidiropoulos N, Rapin N, Merkel A, Stunnenberg HG, Stegle O, Frontini M, Downes K, Pastinen T, Kuijpers TW, Rico D, Valencia A, Beck S, Soranzo N, Paul DSGenome biologyEcker S, Chen L, Pancaldi V, Bagger FO, Fern?ndez JM, Carrillo de Santa Pau E, Juan D, Mann AL, Watt S, Casale FP, Sidiropoulos N, Rapin N, Merkel A, Stunnenberg HG, Stegle O, Frontini M, Downes K, Pastinen T, Kuijpers TW, Rico D, Valencia A, Beck S, Soranzo N, Paul DS. Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types. Genome Biol. 2017 01 26; 18(1):18.Genome Biol2017-01-26T00:00:002017Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types.6.252740.040480120research area of0.8686530.0859526171subject area for28869591Kemp JP, Morris JA, Medina-Gomez C, Forgetta V, Warrington NM, Youlten SE, Zheng J, Gregson CL, Grundberg E, Trajanoska K, Logan JG, Pollard AS, Sparkes PC, Ghirardello EJ, Allen R, Leitch VD, Butterfield NC, Komla-Ebri D, Adoum AT, Curry KF, White JK, Kussy F, Greenlaw KM, Xu C, Harvey NC, Cooper C, Adams DJ, Greenwood CMT, Maurano MT, Kaptoge S, Rivadeneira F, Tobias JH, Croucher PI, Ackert-Bicknell CL, Bassett JHD, Williams GR, Richards JB, Evans DMNature geneticsKemp JP, Morris JA, Medina-Gomez C, Forgetta V, Warrington NM, Youlten SE, Zheng J, Gregson CL, Grundberg E, Trajanoska K, Logan JG, Pollard AS, Sparkes PC, Ghirardello EJ, Allen R, Leitch VD, Butterfield NC, Komla-Ebri D, Adoum AT, Curry KF, White JK, Kussy F, Greenlaw KM, Xu C, Harvey NC, Cooper C, Adams DJ, Greenwood CMT, Maurano MT, Kaptoge S, Rivadeneira F, Tobias JH, Croucher PI, Ackert-Bicknell CL, Bassett JHD, Williams GR, Richards JB, Evans DM. Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. Nat Genet. 2017 Oct; 49(10):1468-1475.Nat Genet2017-09-04T00:00:002017Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.PhDElinGrundbergElin Grundberg0.000000000000000.00000000000000138Grundberg, Elin0000-0001-5415-7896Roberta D. Harding & William F. Bradley Jr. Endowed Chair in Genomic Research MDLaurelWilligLaurel K. Willig0.000000000000000.00000000000000154Willig, LaurelMedical Director, Center for Pediatric Genomic Medicine PediatricsResearchClinicalChildren's Mercy Kansas City32358097Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders CCold Spring Harbor molecular case studiesThiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C. Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing. Cold Spring Harb Mol Case Stud. 2020 06; 6(3).Cold Spring Harb Mol Case Stud2020-06-12T00:00:002020Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.35288711Kundu K, Tardaguila M, Mann AL, Watt S, Ponstingl H, Vasquez L, Von Schiller D, Morrell NW, Stegle O, Pastinen T, Sawcer SJ, Anderson CA, Walter K, Soranzo NNature geneticsKundu K, Tardaguila M, Mann AL, Watt S, Ponstingl H, Vasquez L, Von Schiller D, Morrell NW, Stegle O, Pastinen T, Sawcer SJ, Anderson CA, Walter K, Soranzo N. Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases. Nat Genet. 2022 03; 54(3):251-262.Nat Genet2022-03-14T00:00:002022Genetic associations at regulatory phenotypes improve fine-mapping of causal variants for 12 immune-mediated diseases.true1Medical Director, Center for Pediatric Genomic Medicine Medical Director, Center for Pediatric Genomic Medicine PhDLauraRamseyLaura Ramsey0.000000000000000.00000000000000221Ramsey, Laura0000-0001-6417-3961Doctoral Research Facultytrue1Doctoral Research FacultyDoctoral Research FacultyPhDBrookeFridleyBrooke Fridley0.000000000000000.00000000000000222Fridley, BrookeDirector, Biostatistics and Epidemiology Core30948450Reid BM, Permuth JB, Chen YA, Fridley BL, Iversen ES, Chen Z, Jim H, Vierkant RA, Cunningham JM, Barnholtz-Sloan JS, Narod S, Risch H, Schildkraut JM, Goode EL, Monteiro AN, Sellers TACancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive OncologyReid BM, Permuth JB, Chen YA, Fridley BL, Iversen ES, Chen Z, Jim H, Vierkant RA, Cunningham JM, Barnholtz-Sloan JS, Narod S, Risch H, Schildkraut JM, Goode EL, Monteiro AN, Sellers TA. Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk. Cancer Epidemiol Biomarkers Prev. 2019 07; 28(7):1117-1126.Cancer Epidemiol Biomarkers Prev2019-04-04T00:00:002019Genome-wide Analysis of Common Copy Number Variation and Epithelial Ovarian Cancer Risk.true1Director, Biostatistics and Epidemiology CoreDirector, Biostatistics and Epidemiology Coretrue1Director, Center for Pediatric Genomic Medicine Director, Center for Pediatric Genomic Medicine true1Roberta D. Harding & William F. Bradley Jr. Endowed Chair in Genomic Research Roberta D. Harding & William F. Bradley Jr. Endowed Chair in Genomic Research