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Year Number of Results
2013 1
2014 3
2015 4
2017 4
2018 7
2019 7
2020 3
2021 1
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27 results
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Page 1
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH, Lopez Rodrigo E, Picarsic J, Abramson D, Rotemberg V, De Munck S, Pannecoucke E, Lu SX, Pastore A, Yoshimi A, Mandelker D, Ceyhan-Birsoy O, Ulaner GA, Walsh M, Yabe M, Petrova-Drus K, Arcila ME, Ladanyi M, Solit DB, Berger MF, Hyman DM, Lacouture ME, Erickson C, Saganty R, Ki M, Dunkel IJ, Santa-María López V, Mora J, Haroche J, Emile JF, Decaux O, Geissmann F, Savvides SN, Drilon A, Diamond EL, Abdel-Wahab O. Durham BH, et al. Among authors: ceyhan birsoy o. Nat Med. 2019 Dec;25(12):1839-1842. doi: 10.1038/s41591-019-0653-6. Epub 2019 Nov 25. Nat Med. 2019. PMID: 31768065 Free PMC article.
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Strande NT, et al. Among authors: ceyhan birsoy o. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. Am J Hum Genet. 2017. PMID: 28552198 Free PMC article.
Newborn Sequencing in Genomic Medicine and Public Health.
Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Berg JS, et al. Among authors: ceyhan birsoy o. Pediatrics. 2017 Feb;139(2):e20162252. doi: 10.1542/peds.2016-2252. Epub 2017 Jan 17. Pediatrics. 2017. PMID: 28096516 Free PMC article. Clinical Trial.
Cancer Susceptibility Mutations in Patients With Urothelial Malignancies.
Carlo MI, Ravichandran V, Srinavasan P, Bandlamudi C, Kemel Y, Ceyhan-Birsoy O, Mukherjee S, Mandelker D, Chaim J, Knezevic A, Rana S, Fnu Z, Breen K, Arnold AG, Khurram A, Tkachuk K, Cipolla CK, Regazzi A, Hakimi AA, Al-Ahmadie H, Dalbagni G, Cadoo KA, Walsh MF, Teo MY, Funt SA, Coleman JA, Bochner BH, Iyer G, Solit DB, Stadler ZK, Zhang L, Rosenberg JE, Taylor BS, Robson ME, Berger MF, Vijai J, Bajorin DF, Offit K. Carlo MI, et al. Among authors: ceyhan birsoy o. J Clin Oncol. 2020 Feb 10;38(5):406-414. doi: 10.1200/JCO.19.01395. Epub 2019 Dec 3. J Clin Oncol. 2020. PMID: 31794323 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: ceyhan birsoy o. 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.
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.
Carlo MI, Mukherjee S, Mandelker D, Vijai J, Kemel Y, Zhang L, Knezevic A, Patil S, Ceyhan-Birsoy O, Huang KC, Redzematovic A, Coskey DT, Stewart C, Pradhan N, Arnold AG, Hakimi AA, Chen YB, Coleman JA, Hyman DM, Ladanyi M, Cadoo KA, Walsh MF, Stadler ZK, Lee CH, Feldman DR, Voss MH, Robson M, Motzer RJ, Offit K. Carlo MI, et al. Among authors: ceyhan birsoy o. JAMA Oncol. 2018 Sep 1;4(9):1228-1235. doi: 10.1001/jamaoncol.2018.1986. JAMA Oncol. 2018. PMID: 29978187 Free PMC article.
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Walsh MF, Ritter DI, Kesserwan C, Sonkin D, Chakravarty D, Chao E, Ghosh R, Kemel Y, Wu G, Lee K, Kulkarni S, Hedges D, Mandelker D, Ceyhan-Birsoy O, Luo M, Drazer M, Zhang L, Offit K, Plon SE. Walsh MF, et al. Among authors: ceyhan birsoy o. Hum Mutat. 2018 Nov;39(11):1542-1552. doi: 10.1002/humu.23640. Hum Mutat. 2018. PMID: 30311369 Free PMC article.
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
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