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Year Number of Results
2013 1
2014 3
2015 4
2016 1
2017 4
2018 7
2019 7
2020 3
2021 8
2022 7
2023 4
2024 1

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46 results

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Page 1
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.
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.
Microsatellite Instability-High Endometrial Cancers with MLH1 Promoter Hypermethylation Have Distinct Molecular and Clinical Profiles.
Manning-Geist BL, Liu YL, Devereaux KA, Paula ADC, Zhou QC, Ma W, Selenica P, Ceyhan-Birsoy O, Moukarzel LA, Hoang T, Gordhandas S, Rubinstein MM, Friedman CF, Aghajanian C, Abu-Rustum NR, Stadler ZK, Reis-Filho JS, Iasonos A, Zamarin D, Ellenson LH, Lakhman Y, Mandelker DL, Weigelt B. Manning-Geist BL, et al. Among authors: ceyhan birsoy o. Clin Cancer Res. 2022 Oct 3;28(19):4302-4311. doi: 10.1158/1078-0432.CCR-22-0713. Clin Cancer Res. 2022. PMID: 35849120 Free PMC article.
Comprehensive analysis of germline drivers in endometrial cancer.
Gordhandas S, Rios-Doria E, Cadoo KA, Catchings A, Maio A, Kemel Y, Sheehan M, Ranganathan M, Green D, Aryamvally A, Arnold AG, Salo-Mullen E, Manning-Geist B, Sia T, Selenica P, Da Cruz Paula A, Vanderbilt C, Misyura M, Leitao MM, Mueller JJ, Makker V, Rubinstein M, Friedman CF, Zhou Q, Iasonos A, Latham A, Carlo MI, Murciano-Goroff YR, Will M, Walsh MF, Issa Bhaloo S, Ellenson LH, Ceyhan-Birsoy O, Berger MF, Robson ME, Abu-Rustum N, Aghajanian C, Offit K, Stadler Z, Weigelt B, Mandelker DL, Liu YL. Gordhandas S, et al. Among authors: ceyhan birsoy o. J Natl Cancer Inst. 2023 May 8;115(5):560-569. doi: 10.1093/jnci/djad016. J Natl Cancer Inst. 2023. PMID: 36744932 Free PMC article.
Genomic Profiling Reveals Germline Predisposition and Homologous Recombination Deficiency in Pancreatic Acinar Cell Carcinoma.
Mandelker D, Marra A, Zheng-Lin B, Selenica P, Blanco-Heredia J, Zhu Y, Gazzo A, Wong D, Yelskaya Z, Rai V, Somar J, Ostafi S, Mehta N, Yang C, Li Y, Brown DN, da Silva EM, Pei X, Linkov I, Terraf P, Misyura M, Ceyhan-Birsoy O, Ladanyi M, Berger M, Pareja F, Stadler Z, Offit K, Riaz N, Park W, Chou J, Capanu M, Koehler M, Rosen E, O'Reilly EM, Reis-Filho JS. Mandelker D, et al. Among authors: ceyhan birsoy o. J Clin Oncol. 2023 Nov 20;41(33):5151-5162. doi: 10.1200/JCO.23.00561. Epub 2023 Aug 22. J Clin Oncol. 2023. PMID: 37607324
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, Holm IA, Beggs AH; BabySeq Project Team. Green RC, et al. Among authors: ceyhan birsoy o. Am J Hum Genet. 2023 Jul 6;110(7):1034-1045. doi: 10.1016/j.ajhg.2023.05.007. Epub 2023 Jun 5. Am J Hum Genet. 2023. PMID: 37279760 Free PMC article.
Therapeutic Implications of Germline Testing in Patients With Advanced Cancers.
Stadler ZK, Maio A, Chakravarty D, Kemel Y, Sheehan M, Salo-Mullen E, Tkachuk K, Fong CJ, Nguyen B, Erakky A, Cadoo K, Liu Y, Carlo MI, Latham A, Zhang H, Kundra R, Smith S, Galle J, Aghajanian C, Abu-Rustum N, Varghese A, O'Reilly EM, Morris M, Abida W, Walsh M, Drilon A, Jayakumaran G, Zehir A, Ladanyi M, Ceyhan-Birsoy O, Solit DB, Schultz N, Berger MF, Mandelker D, Diaz LA Jr, Offit K, Robson ME. Stadler ZK, et al. Among authors: ceyhan birsoy o. J Clin Oncol. 2021 Aug 20;39(24):2698-2709. doi: 10.1200/JCO.20.03661. Epub 2021 Jun 16. J Clin Oncol. 2021. PMID: 34133209 Free PMC article.
Evolving Significance of Tumor-Normal Sequencing in Cancer Care.
Mandelker D, Ceyhan-Birsoy O. Mandelker D, et al. Among authors: ceyhan birsoy o. Trends Cancer. 2020 Jan;6(1):31-39. doi: 10.1016/j.trecan.2019.11.006. Epub 2019 Dec 10. Trends Cancer. 2020. PMID: 31952779 Free PMC article. Review.
46 results