D006579Living BeingsG05.380.3831553650.903231Heterozygoteprns:emailEncryptedemail addressprns:fullNamefull nameprns:hasAuthorListauthor listprns: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:predicateNodepredicate nodeprns:publicationDatepublication dateprns:sortOrdersort orderprns:uniquenessWeightuniqueness weightprns:yearyearAcademic ArticleArticleDocumentbibo:pmidPubMed IdentifierDepartmentvivo:hrJobTitleHR job titleInformation Resourcevivo:linkAnchorTextlink anchor textPositionvivo:positionInOrganizationposition in organizationvivo:preferredTitlepreferred titlevivo:researchAreaOfresearch area ofvivo:subjectAreaForsubject area forURLLinkvivo:webpagewebpagerdf:predicatepredicaterdf:typetyperdfs:labellabelConceptAgentfoaf:firstNamefirst namefoaf:lastNamelast nameOrganizationPersonMedicine-Gastroenterology31213659Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Bialkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubinski J, Lukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D, KConFab Investigators, HEBON Investigators, GEMO Study Collaborators, EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D, CIMBABritish journal of cancerMendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2019 07; 121(2):180-192.Br J Cancer2019-06-19T00:00:002019Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.32335146Kupfer SS, Gupta S, Weitzel JN, Samadder JGastroenterologyAGA Clinical Practice Update on Colorectal and Pancreatic Cancer Risk and Screening in BRCA1 and BRCA2 Carriers: Commentary. Gastroenterology. 2020 08; 159(2):760-764.Gastroenterology2020-04-23T00:00:002020AGA Clinical Practice Update on Colorectal and Pancreatic Cancer Risk and Screening in BRCA1 and BRCA2 Carriers: Commentary.33355653Nabais Sá MJ, Olson AN, Yoon G, Nimmo GAM, Gomez CM, Willemsen MA, Millan F, Schneider A, Pfundt R, de Brouwer APM, Dinman JD, de Vries BBAHuman molecular geneticsDe Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus. Hum Mol Genet. 2021 02 25; 29(24):3892-3899.Hum Mol Genet2021-02-25T00:00:002021De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus.33464451Giardino G, Sharapova SO, Ciznar P, Dhalla F, Maragliano L, Radha Rama Devi A, Islamoglu C, Ikinciogullari A, Haskologlu S, Dogu F, Hanna-Wakim R, Dbaibo G, Chou J, Cirillo E, Borzacchiello C, Kreins AY, Worth A, Rota IA, Marques JG, Sayitoglu M, Firtina S, Mahdi M, Geha R, Neven B, Sousa AE, Benfenati F, Hollander GA, Davies EG, Pignata CJournal of clinical immunologyExpanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations. J Clin Immunol. 2021 05; 41(4):756-768.J Clin Immunol2021-01-19T00:00:002021Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.Medicine-Hematology and OncologyPediatrics-Academic Pediatrics34128397Furman A, Hannoush Z, Echegoyen FB, Dumitrescu A, Refetoff S, Weiss REThyroid : official journal of the American Thyroid AssociationNovel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism. Thyroid. 2021 10; 31(10):1589-1591.Thyroid2021-07-16T00:00:002021Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism.https://cgh.uchicago.edu/page/leadershipGlobal Healthhttps://www.uchicagomedicine.org/find-a-physician/physician/olufunmilayo-i-olopadeUChicago Medicinehttps://cancerbio.uchicago.edu/program/faculty/olufunmilayo-olopadeCancer Biologyhttps://www.uchicagomedicine.org/conditions-services/cancer/cancer-risk-preventionCancer Risk and Prevention2.484760.00372009155research area of0.8293470.00520248343subject area forMedicineUniversity of ChicagoSamuelRefetoffSamuel Refetoff41.78927490000000-87.60125000000000116Refetoff, SamuelEmeritus/EmeritaLainieRoss23BmGLI1DO/RmHllZ0mg9mHvLainie Ross41.78927490000000-87.601250000000001639Ross, LainieProfessorOlufunmilayoOlopade321vBIF1GuTQkntjbwjr93A=Olufunmilayo Olopade41.78927490000000-87.601250000000001960Olopade, OlufunmilayoProfessorRoy EmanuelWeissRoy Emanuel Weiss41.78927490000000-87.601250000000002395Weiss, Roy EmanuelEmeritus/Emerita, ProfessorSonia S.KupferxHFiHrETHP75hHlsaUXv9Gq0+s+oSonia S. Kupfer41.78927490000000-87.60125000000000446Kupfer, Sonia S.Professortrue1Emeritus/Emerita, ProfessorEmeritus/Emerita, Professortrue1Emeritus/EmeritaEmeritus/Emeritatrue1ProfessorProfessortrue1ProfessorProfessortrue1ProfessorProfessorMedicine-Endocrinology