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A clinically validated diagnostic second-generation sequencing assay for detection of hereditary BRCA1 and BRCA2 mutations.
Bosdet IE, Docking TR, Butterfield YS, Mungall AJ, Zeng T, Coope RJ, Yorida E, Chow K, Bala M, Young SS, Hirst M, Birol I, Moore RA, Jones SJ, Marra MA, Holt R, Karsan A. Bosdet IE, et al. Among authors: young ss. J Mol Diagn. 2013 Nov;15(6):796-809. doi: 10.1016/j.jmoldx.2013.07.004. Epub 2013 Oct 4. J Mol Diagn. 2013. PMID: 24094589 Free article.
Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, J Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, J Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Among authors: young ss. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001628. doi: 10.1101/mcs.a001628. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28514723 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. 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.
Corrigendum: Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma.
Thibodeau ML, Reisle C, Zhao E, Martin LA, Alwelaie Y, Mungall KL, Ch'ng C, Thomas R, Ng T, Yip S, Lim H, Sun S, Young SS, Karsan A, Zhao Y, Mungall AJ, Moore RA, Renouf D, Gelmon K, Ma YP, Hayes M, Laskin J, Marra MA, Schrader KA, Jones SJM. Thibodeau ML, et al. Among authors: young ss. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a003327. doi: 10.1101/mcs.a003327. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 30068734 Free PMC article. No abstract available.
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.
Use of Treatment-Focused Tumor Sequencing to Screen for Germline Cancer Predisposition.
Lau TTY, May CM, Sefid Dashti ZJ, Swanson L, Starks ER, Parker JDK, Moore RA, Tucker T, Bosdet I, Young SS, Santos JL, Compton K, Heidary N, Hoang L, Schrader KA, Sun S, Kwon JS, Tinker AV, Karsan A. Lau TTY, et al. Among authors: young ss. J Mol Diagn. 2021 Sep;23(9):1145-1158. doi: 10.1016/j.jmoldx.2021.06.006. Epub 2021 Jun 29. J Mol Diagn. 2021. PMID: 34197922 Free article.
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ, Shen Y, Titmuss E, Dixon K, Williamson LM, Pleasance E, Nelson JMT, Abbasi S, Krzywinski M, Armstrong L, Bonakdar M, Ch'ng C, Chuah E, Dunham C, Fok A, Jones M, Lee AF, Ma Y, Moore RA, Mungall AJ, Mungall KL, Rogers PC, Schrader KA, Virani A, Wee K, Young SS, Zhao Y, Jones SJM, Laskin J, Marra MA, Rassekh SR. Deyell RJ, et al. Among authors: young ss. Nat Commun. 2024 May 16;15(1):4165. doi: 10.1038/s41467-024-48363-5. Nat Commun. 2024. PMID: 38755180 Free PMC article.
Enhancing clinical genomic accuracy with panelGC: a novel metric and tool for quantifying and monitoring GC biases in hybridization capture panel sequencing.
Cheng X, Goktas MT, Williamson LM, Krzywinski M, Mulder DT, Swanson L, Slind J, Sihvonen J, Chow CR, Carr A, Bosdet I, Tucker T, Young S, Moore R, Mungall KL, Yip S, Jones SJM. Cheng X, et al. Brief Bioinform. 2024 Jul 25;25(5):bbae442. doi: 10.1093/bib/bbae442. Brief Bioinform. 2024. PMID: 39256198 Free PMC article.
190 results