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Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History.
Patel AP, Wang M, Fahed AC, Mason-Suares H, Brockman D, Pelletier R, Amr S, Machini K, Hawley M, Witkowski L, Koch C, Philippakis A, Cassa CA, Ellinor PT, Kathiresan S, Ng K, Lebo M, Khera AV. Patel AP, et al. Among authors: pelletier r. JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959. JAMA Netw Open. 2020. PMID: 32347951 Free PMC article.
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.
Brockman DG, Austin-Tse CA, Pelletier RC, Harley C, Patterson C, Head H, Leonard CE, O'Brien K, Mahanta LM, Lebo MS, Lu CY, Natarajan P, Khera AV, Aragam KG, Kathiresan S, Rehm HL, Udler MS. Brockman DG, et al. Genet Med. 2021 Sep;23(9):1689-1696. doi: 10.1038/s41436-021-01193-y. Epub 2021 May 11. Genet Med. 2021. PMID: 33976420 Free PMC article. Clinical Trial.
Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Schwartz TS, et al. Eur J Med Genet. 2019 Feb;62(2):137-143. doi: 10.1016/j.ejmg.2018.06.015. Epub 2018 Jun 28. Eur J Med Genet. 2019. PMID: 29960046 Free PMC article.
Challenges and Errors in Genetic Testing: The Fifth Case Series.
Farmer MB, Bonadies DC, Pederson HJ, Mraz KA, Whatley JW, Darnes DR, Denton JJ, De Rosa D, Heatherly A, Kenney J, Lane K, Paul D, Pelletier RC, Shannon K, Williams D, Matloff ET. Farmer MB, et al. Among authors: pelletier rc. Cancer J. 2021 Nov-Dec 01;27(6):417-422. doi: 10.1097/PPO.0000000000000553. Cancer J. 2021. PMID: 34904802
Ubiquitin-specific protease 7 inhibitors reveal a differentiated mechanism of p53-driven anti-cancer activity.
Futran AS, Lu T, Amberg-Johnson K, Xu J, Yang X, He S, Boyce S, Bell JA, Pelletier R, Suzuki T, Huang X, Qian H, Fang L, Xing L, Xu Z, Kurtz SE, Tyner JW, Tang W, Guo T, Akinsanya K, Madge D, Jensen KK. Futran AS, et al. Among authors: pelletier r. iScience. 2024 Apr 9;27(5):109693. doi: 10.1016/j.isci.2024.109693. eCollection 2024 May 17. iScience. 2024. PMID: 38689642 Free PMC article.
377 results