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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: li y. JAMA. 2017 Sep 5;318(9):825-835. doi: 10.1001/jama.2017.11137. JAMA. 2017. PMID: 28873162 Free PMC article.
Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.
Cheng DT, Prasad M, Chekaluk Y, Benayed R, Sadowska J, Zehir A, Syed A, Wang YE, Somar J, Li Y, Yelskaya Z, Wong D, Robson ME, Offit K, Berger MF, Nafa K, Ladanyi M, Zhang L. Cheng DT, et al. Among authors: li y. BMC Med Genomics. 2017 May 19;10(1):33. doi: 10.1186/s12920-017-0271-4. BMC Med Genomics. 2017. PMID: 28526081 Free PMC article.
Germline SDHA mutations in children and adults with cancer.
Dubard Gault M, Mandelker D, DeLair D, Stewart CR, Kemel Y, Sheehan MR, Siegel B, Kennedy J, Marcell V, Arnold A, Al-Ahmadie H, Modak S, Robson M, Shukla N, Roberts S, Vijai J, Topka S, Kentsis A, Cadoo K, Carlo M, Latham Schwark A, Reznik E, Dinatale R, Hechtman J, Borras Flores E, Jairam S, Yang C, Li Y, Bayraktar EC, Ceyhan-Birsoy O, Zhang L, Kohlman W, Schiffman J, Stadler Z, Birsoy K, Kung A, Offit K, Walsh MF. Dubard Gault M, et al. Among authors: li y. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002584. doi: 10.1101/mcs.a002584. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 30068732 Free PMC article.
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.
Zhang L, Walsh MF, Jairam S, Mandelker D, Zhong Y, Kemel Y, Chen YB, Musheyev D, Zehir A, Jayakumaran G, Brzostowski E, Birsoy O, Yang C, Li Y, Somar J, DeLair D, Pradhan N, Berger MF, Cadoo K, Carlo MI, Robson ME, Stadler ZK, Iacobuzio-Donahue CA, Joseph V, Offit K. Zhang L, et al. Among authors: li y. Hum Mutat. 2020 Jan;41(1):103-109. doi: 10.1002/humu.23900. Epub 2019 Sep 3. Hum Mutat. 2020. PMID: 31444830 Free PMC article.
Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome.
Yang C, Li Y, Trottier M, Farrell MP, Rai VK, E Salo-Mullen E, Gallagher DJ, Stadler ZK, van der Klift HM, Zhang L. Yang C, et al. Among authors: li y. Genes Chromosomes Cancer. 2021 Aug;60(8):571-576. doi: 10.1002/gcc.22950. Epub 2021 Apr 21. Genes Chromosomes Cancer. 2021. PMID: 33822432 Free PMC article.
Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome.
Ceyhan-Birsoy O, Selenica P, Chui MH, Jayakumaran G, Ptashkin R, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Kemel Y, Salo-Mullen E, Maio A, Sheehan M, Zehir A, Carlo M, Latham A, Stadler Z, Robson M, Offit K, Ladanyi M, Walsh M, Reis-Filho JS, Mandelker D. Ceyhan-Birsoy O, et al. Among authors: li y. J Natl Cancer Inst. 2021 Nov 29;113(12):1751-1760. doi: 10.1093/jnci/djab117. J Natl Cancer Inst. 2021. PMID: 34240179 Free PMC article.
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients.
Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Maio A, Arnold A, Salo-Mullen E, Sheehan M, Syed A, Walsh M, Carlo M, Robson M, Offit K, Ladanyi M, Reis-Filho JS, Stadler ZK, Zhang L, Latham A, Zehir A, Mandelker D. Ceyhan-Birsoy O, et al. Among authors: li y. Genome Med. 2022 Aug 15;14(1):92. doi: 10.1186/s13073-022-01101-2. Genome Med. 2022. PMID: 35971132 Free PMC article.
Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal Adenocarcinoma.
Zheng-Lin B, Rainone M, Varghese AM, Yu KH, Park W, Berger M, Mehine M, Chou J, Capanu M, Mandelker D, Stadler ZK, Birsoy O, Jairam S, Yang C, Li Y, Wong D, Benhamida JK, Ladanyi M, Zhang L, O'Reilly EM. Zheng-Lin B, et al. Among authors: li y. Mol Diagn Ther. 2022 Nov;26(6):645-653. doi: 10.1007/s40291-022-00614-1. Epub 2022 Sep 30. Mol Diagn Ther. 2022. PMID: 36178671 Free PMC article.
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