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Page 1
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O. Ross JE, et al. Among authors: ceyhan birsoy o. J Neuromuscul Dis. 2025 Jun 10:22143602251339369. doi: 10.1177/22143602251339369. Online ahead of print. J Neuromuscul Dis. 2025. PMID: 40491337 Free article.
Detection and Characterization of RB1 Mosaicism in Patients With Retinoblastoma Receiving cfDNA Test.
Gao C, Patel J, Robbins M, Gedvilaite E, Bowman AS, Arora K, Vanderbilt C, Brannon AR, Friedman DN, Kennedy J, Fiala E, Ceyhan-Birsoy O, Dunkel IJ, Weigelt B, Francis JH, Reis-Filho JS, Abramson DH, Mandelker D. Gao C, et al. Among authors: ceyhan birsoy o. JAMA Ophthalmol. 2025 May 8:e251079. doi: 10.1001/jamaophthalmol.2025.1079. Online ahead of print. JAMA Ophthalmol. 2025. PMID: 40338593 Free PMC article.
Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings.
Ceyhan-Birsoy O, Fiala E, Rana S, Sheehan M, Kennedy J, Yelskaya Z, Rai V, Li Y, Yang C, Wong D, Rijo I, Casanova J, Somar J, Mehta N, Park H, Ostafi S, Arora K, Padunan A, Ewalt MD, Aypar U, Terraf P, Misyura M, Haque S, Behr GG, Haque T, Sulis M, Geyer MB, Forlenza C, Thompson MC, Carlo M, Latham A, Liu Y, Zehir A, Brannon R, Berger M, Diaz LA Jr, Dogan A, Ladanyi M, Petrova-Drus K, Nafa K, Offit K, Arcila M, Stadler ZK, Walsh MF, Mandelker D. Ceyhan-Birsoy O, et al. Haematologica. 2024 Oct 1;109(10):3383-3390. doi: 10.3324/haematol.2024.285055. Haematologica. 2024. PMID: 38572560 Free PMC article. No abstract available.
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 Free PMC article.
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.
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.
Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations.
Mandelker D, Marra A, Mehta N, Selenica P, Yelskaya Z, Yang C, Somar J, Mehine M, Misyura M, Basturk O, Latham A, Carlo M, Walsh M, Stadler ZK, Offit K, Bandlamudi C, Hameed M, Chi P, Reis-Filho JS, Ceyhan-Birsoy O. Mandelker D, et al. Among authors: ceyhan birsoy o. NPJ Precis Oncol. 2023 Jan 2;7(1):1. doi: 10.1038/s41698-022-00342-z. NPJ Precis Oncol. 2023. PMID: 36593350 Free PMC article.
63 results