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420 results

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Page 1
Germline deletion of ETV6 in familial acute lymphoblastic leukemia.
Rampersaud E, Ziegler DS, Iacobucci I, Payne-Turner D, Churchman ML, Schrader KA, Joseph V, Offit K, Tucker K, Sutton R, Warby M, Chenevix-Trench G, Huntsman DG, Tsoli M, Mead RS, Qu C, Leventaki V, Wu G, Mullighan CG. Rampersaud E, et al. Among authors: joseph v. Blood Adv. 2019 Apr 9;3(7):1039-1046. doi: 10.1182/bloodadvances.2018030635. Blood Adv. 2019. PMID: 30940639 Free PMC article.
COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration.
COMPLEXO; Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jønson L, Pedersen IS, Hansen TV, Nevanlinna H, Khan S, Sinilnikova O, Mazoyer S, Lesueur F, Damiola F, Schmutzler R, Meindl A, Hahnen E, Dufault MR, Chris Chan T, Kwong A, Barkardóttir R, Radice P, Peterlongo P, Devilee P, Hilbers F, Benitez J, Kvist A, Törngren T, Easton D, Hunter D, Lindstrom S, Kraft P, Zheng W, Gao YT, Long J, Ramus S, Feng BJ, Weitzel JN, Nathanson K, Offit K, Joseph V, Robson M, Schrader K, Wang S, Kim YC, Lynch H, Snyder C, Tavtigian S, Neuhausen S, Couch FJ, Goldgar DE. COMPLEXO, et al. Among authors: joseph v. Breast Cancer Res. 2013 Jun 21;15(3):402. doi: 10.1186/bcr3434. Breast Cancer Res. 2013. PMID: 23809231 Free PMC article.
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH. Ballew BJ, et al. Among authors: joseph v. PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009516 Free PMC article.
Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.
Schrader KA, Cheng DT, Joseph V, Prasad M, Walsh M, Zehir A, Ni A, Thomas T, Benayed R, Ashraf A, Lincoln A, Arcila M, Stadler Z, Solit D, Hyman DM, Zhang L, Klimstra D, Ladanyi M, Offit K, Berger M, Robson M. Schrader KA, et al. Among authors: joseph v. JAMA Oncol. 2016 Jan;2(1):104-11. doi: 10.1001/jamaoncol.2015.5208. JAMA Oncol. 2016. PMID: 26556299 Free PMC article.
A Germline Variant on Chromosome 4q31.1 Associates with Susceptibility to Developing Colon Cancer Metastasis.
Markowitz SD, Nock NL, Schmit SL, Stadler ZK, Joseph V, Zhang L, Willis JE, Scacheri P, Veigl M, Adams MD, Raskin L, Sullivan JF, Stratton K, Shia J, Ellis N, Rennert HS, Manschreck C, Li L, Offit K, Elston RC, Rennert G, Gruber SB. Markowitz SD, et al. Among authors: joseph v. PLoS One. 2016 Jan 11;11(1):e0146435. doi: 10.1371/journal.pone.0146435. eCollection 2016. PLoS One. 2016. PMID: 26751797 Free PMC article.
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Hamdi Y, Soucy P, Kuchenbaeker KB, Pastinen T, Droit A, Lemaçon A, Adlard J, Aittomäki K, Andrulis IL, Arason A, Arnold N, Arun BK, Azzollini J, Bane A, Barjhoux L, Barrowdale D, Benitez J, Berthet P, Blok MJ, Bobolis K, Bonadona V, Bonanni B, Bradbury AR, Brewer C, Buecher B, Buys SS, Caligo MA, Chiquette J, Chung WK, Claes KB, Daly MB, Damiola F, Davidson R, De la Hoya M, De Leeneer K, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Eccles D, Eeles R, Einbeigi Z, Ejlertsen B; EMBRACE; Engel C, Gareth Evans D, Feliubadalo L, Foretova L, Fostira F, Foulkes WD, Fountzilas G, Friedman E, Frost D, Ganschow P, Ganz PA, Garber J, Gayther SA; GEMO Study Collaborators; Gerdes AM, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gronwald J, Hahnen E, Hamann U, Hansen TV, Hart S, Hays JL; HEBON; Hogervorst FB, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Joseph V, Just W, Kaczmarek K, Karlan BY; KConFab Investigators; Kets CM, Kirk J, Kriege M, Laitman Y, Laurent M, Lazaro C, Leslie G, Lester J, Lesueur F, Liljegren A, Loman N, Loud JT, Manoukian S, Mariani M, Mazoyer S, McGuffog L, Meijers-Heijboer HE, Meindl A, Miller A, Mo… See abstract for full author list ➔ Hamdi Y, et al. Among authors: joseph v. Breast Cancer Res Treat. 2017 Jan;161(1):117-134. doi: 10.1007/s10549-016-4018-2. Epub 2016 Oct 28. Breast Cancer Res Treat. 2017. PMID: 27796716 Free PMC article.
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O'Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, Offit K. Mandelker D, et al. Among authors: joseph v. JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. JAMA. 2017. PMID: 28873162 Free PMC article.
Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.
Waller RG, Darlington TM, Wei X, Madsen MJ, Thomas A, Curtin K, Coon H, Rajamanickam V, Musinsky J, Jayabalan D, Atanackovic D, Rajkumar SV, Kumar S, Slager S, Middha M, Galia P, Demangel D, Salama M, Joseph V, McKay J, Offit K, Klein RJ, Lipkin SM, Dumontet C, Vachon CM, Camp NJ. Waller RG, et al. Among authors: joseph v. PLoS Genet. 2018 Feb 1;14(2):e1007111. doi: 10.1371/journal.pgen.1007111. eCollection 2018 Feb. PLoS Genet. 2018. PMID: 29389935 Free PMC article.
Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma.
Wei X, Calvo-Vidal MN, Chen S, Wu G, Revuelta MV, Sun J, Zhang J, Walsh MF, Nichols KE, Joseph V, Snyder C, Vachon CM, McKay JD, Wang SP, Jayabalan DS, Jacobs LM, Becirovic D, Waller RG, Artomov M, Viale A, Patel J, Phillip J, Chen-Kiang S, Curtin K, Salama M, Atanackovic D, Niesvizky R, Landgren O, Slager SL, Godley LA, Churpek J, Garber JE, Anderson KC, Daly MJ, Roeder RG, Dumontet C, Lynch HT, Mullighan CG, Camp NJ, Offit K, Klein RJ, Yu H, Cerchietti L, Lipkin SM. Wei X, et al. Among authors: joseph v. Cancer Res. 2018 May 15;78(10):2747-2759. doi: 10.1158/0008-5472.CAN-17-1900. Epub 2018 Mar 20. Cancer Res. 2018. PMID: 29559475 Free PMC article.
Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes.
Artomov M, Joseph V, Tiao G, Thomas T, Schrader K, Klein RJ, Kiezun A, Gupta N, Margolin L, Stratigos AJ, Kim I, Shannon K, Ellisen LW, Haber D, Getz G, Tsao H, Lipkin SM, Altshuler D, Offit K, Daly MJ. Artomov M, et al. Among authors: joseph v. Eur J Hum Genet. 2019 May;27(5):824-828. doi: 10.1038/s41431-019-0346-0. Epub 2019 Feb 4. Eur J Hum Genet. 2019. PMID: 30718883 Free PMC article.
420 results