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Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.
Thibodeau ML, O'Neill K, Dixon K, Reisle C, Mungall KL, Krzywinski M, Shen Y, Lim HJ, Cheng D, Tse K, Wong T, Chuah E, Fok A, Sun S, Renouf D, Schaeffer DF, Cremin C, Chia S, Young S, Pandoh P, Pleasance S, Pleasance E, Mungall AJ, Moore R, Yip S, Karsan A, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Among authors: young s. Genet Med. 2020 Nov;22(11):1892-1897. doi: 10.1038/s41436-020-0880-8. Epub 2020 Jul 6. Genet Med. 2020. PMID: 32624572 Free PMC article.
Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers.
Yip S, Butterfield YS, Morozova O, Chittaranjan S, Blough MD, An J, Birol I, Chesnelong C, Chiu R, Chuah E, Corbett R, Docking R, Firme M, Hirst M, Jackman S, Karsan A, Li H, Louis DN, Maslova A, Moore R, Moradian A, Mungall KL, Perizzolo M, Qian J, Roldan G, Smith EE, Tamura-Wells J, Thiessen N, Varhol R, Weiss S, Wu W, Young S, Zhao Y, Mungall AJ, Jones SJ, Morin GB, Chan JA, Cairncross JG, Marra MA. Yip S, et al. Among authors: young s. J Pathol. 2012 Jan;226(1):7-16. doi: 10.1002/path.2995. Epub 2011 Nov 10. J Pathol. 2012. PMID: 22072542 Free PMC article.
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS, Zakoor KR, Chun K, Speevak MD, Waye JS, McCready E, Parboosingh JS, Lamont RE, Feilotter H, Bosdet I, Tucker T, Young S, Karsan A, Charames GS, Agatep R, Spriggs EL, Chisholm C, Vasli N, Daoud H, Jarinova O, Tomaszewski R, Hume S, Taylor S, Akbari MR, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Lebo MS, et al. Among authors: young s. Genet Med. 2018 Mar;20(3):294-302. doi: 10.1038/gim.2017.80. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726806 Free article.
Homologous Recombination Deficiency and Platinum-Based Therapy Outcomes in Advanced Breast Cancer.
Zhao EY, Shen Y, Pleasance E, Kasaian K, Leelakumari S, Jones M, Bose P, Ch'ng C, Reisle C, Eirew P, Corbett R, Mungall KL, Thiessen N, Ma Y, Schein JE, Mungall AJ, Zhao Y, Moore RA, Den Brok W, Wilson S, Villa D, Shenkier T, Lohrisch C, Chia S, Yip S, Gelmon K, Lim H, Renouf D, Sun S, Schrader KA, Young S, Bosdet I, Karsan A, Laskin J, Marra MA, Jones SJM. Zhao EY, et al. Among authors: young s. Clin Cancer Res. 2017 Dec 15;23(24):7521-7530. doi: 10.1158/1078-0432.CCR-17-1941. Clin Cancer Res. 2017. PMID: 29246904
Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.
Thibodeau ML, Zhao EY, Reisle C, Ch'ng C, Wong HL, Shen Y, Jones MR, Lim HJ, Young S, Cremin C, Pleasance E, Zhang W, Holt R, Eirew P, Karasinska J, Kalloger SE, Taylor G, Majounie E, Bonakdar M, Zong Z, Bleile D, Chiu R, Birol I, Gelmon K, Lohrisch C, Mungall KL, Mungall AJ, Moore R, Ma YP, Fok A, Yip S, Karsan A, Huntsman D, Schaeffer DF, Laskin J, Marra MA, Renouf DJ, Jones SJM, Schrader KA. Thibodeau ML, et al. Among authors: young s. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003681. doi: 10.1101/mcs.a003681. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30833417 Free PMC article.
Establishing a Framework for the Clinical Translation of Germline Findings in Precision Oncology.
Dixon K, Young S, Shen Y, Thibodeau ML, Fok A, Pleasance E, Zhao E, Jones M, Aubert G, Armstrong L, Virani A, Regier D, Gelmon K, Renouf D, Chia S, Bosdet I, Rassekh SR, Deyell RJ, Yip S, Fisic A, Titmuss E, Abadi S, Jones SJM, Sun S, Karsan A, Marra M, Laskin J, Lim H, Schrader KA. Dixon K, et al. Among authors: young s. JNCI Cancer Spectr. 2020 May 29;4(5):pkaa045. doi: 10.1093/jncics/pkaa045. eCollection 2020 Oct. JNCI Cancer Spectr. 2020. PMID: 33134827 Free PMC article.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. Among authors: young ss. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
6,087 results