D018389Chemicals & DrugsPhysiologyD13.444.735.544.355.250.235G05.360.335.355.250.235G05.365.590.195560.99666Codon, Nonsensecmhprofilesont: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 nameOrganizationPerson0.2103450.0308725research area of0.8276180.1239027subject area forMDRyanFischerRyan T. Fischer0.000000000000000.00000000000000101Fischer, RyanChief, Section of Hepatology and Transport Medicine MD, PhDTomiPastinenTomi Pastinen0.000000000000000.00000000000000113Pastinen, TomiDirector, Center for Pediatric Genomic Medicine 3Assistant Professor2Associate Professor30224643Orlando G, Law PJ, Cornish AJ, Dobbins SE, Chubb D, Broderick P, Litchfield K, Hariri F, Pastinen T, Osborne CS, Taipale J, Houlston RSNature geneticsOrlando G, Law PJ, Cornish AJ, Dobbins SE, Chubb D, Broderick P, Litchfield K, Hariri F, Pastinen T, Osborne CS, Taipale J, Houlston RS. Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer. Nat Genet. 2018 10; 50(10):1375-1380.Nat Genet2018-09-17T00:00:002018Promoter capture Hi-C-based identification of recurrent noncoding mutations in colorectal cancer.PhD, CGCEmilyFarrowEmily G. Farrow0.000000000000000.00000000000000124Farrow, EmilyDirector of Lab Operations31074142Rengasamy Venugopalan S, Farrow E, Sanchez-Lara PA, Yen S, Lypka M, Jiang S, Allareddy VOrthodontics & craniofacial researchRengasamy Venugopalan S, Farrow E, Sanchez-Lara PA, Yen S, Lypka M, Jiang S, Allareddy V. A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient. Orthod Craniofac Res. 2019 May; 22 Suppl 1:163-167.Orthod Craniofac Res2019-05-01T00:00:002019A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient.PediatricsResearchClinicalChildren's Mercy Kansas City22461475Badolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SFBloodBadolato R, Prandini A, Caracciolo S, Colombo F, Tabellini G, Giacomelli M, Cantarini ME, Pession A, Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Saunders CJ, Zhang L, Schroth GP, Plebani A, Parolini S, Kingsmore SF. Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. Blood. 2012 Mar 29; 119(13):3185-7.Blood2012-03-29T00:00:002012Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.PhDCraigSmailCraig Smail0.000000000000000.00000000000000187Smail, Craig0000-0001-8045-6021Computational Research FacultyPhDJayVivianJay Vivian0.000000000000000.00000000000000206Vivian, Jay0000-0001-5375-5974Director, Rare Disease Model Research Program33666275van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipinski P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Mu?oz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsofi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz ?, Kerkar N, H?rby J?rgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJHepatology (Baltimore, Md.)van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipinski P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Mu?oz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsofi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz ?, Kerkar N, H?rby J?rgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ. Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency. Hepatology. 2021 08; 74(2):892-906.Hepatology2021-07-13T00:00:002021Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.34216550Teran NA, Nachun DC, Eulalio T, Ferraro NM, Smail C, Rivas MA, Montgomery SBAmerican journal of human geneticsTeran NA, Nachun DC, Eulalio T, Ferraro NM, Smail C, Rivas MA, Montgomery SB. Nonsense-mediated decay is highly stable across individuals and tissues. Am J Hum Genet. 2021 08 05; 108(8):1401-1408.Am J Hum Genet2021-07-02T00:00:002021Nonsense-mediated decay is highly stable across individuals and tissues.true1Director, Rare Disease Model Research ProgramDirector, Rare Disease Model Research Programtrue1Chief, Section of Hepatology and Transport Medicine Chief, Section of Hepatology and Transport Medicine true1Director, Center for Pediatric Genomic Medicine Director, Center for Pediatric Genomic Medicine true1Computational Research FacultyComputational Research Facultytrue1Director of Lab OperationsDirector of Lab Operations