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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: witkowski l. JAMA Netw Open. 2020 Apr 1;3(4):e203959. doi: 10.1001/jamanetworkopen.2020.3959. JAMA Netw Open. 2020. PMID: 32347951 Free PMC article.
Author Correction: SMARCA4/2 loss inhibits chemotherapy-induced apoptosis by restricting IP3R3-mediated Ca2+ flux to mitochondria.
Xue Y, Morris JL, Yang K, Fu Z, Zhu X, Johnson F, Meehan B, Witkowski L, Yasmeen A, Golenar T, Coatham M, Morin G, Monast A, Pilon V, Fiset PO, Jung S, Gonzalez AV, Camilleri-Broet S, Fu L, Postovit LM, Spicer J, Gotlieb WH, Guiot MC, Rak J, Park M, Lockwood W, Foulkes WD, Prudent J, Huang S. Xue Y, et al. Among authors: witkowski l. Nat Commun. 2023 Mar 21;14(1):1552. doi: 10.1038/s41467-023-37144-1. Nat Commun. 2023. PMID: 36944611 Free PMC article. No abstract available.
Detection of Pathogenic Variants With Germline Genetic Testing Using Deep Learning vs Standard Methods in Patients With Prostate Cancer and Melanoma.
AlDubayan SH, Conway JR, Camp SY, Witkowski L, Kofman E, Reardon B, Han S, Moore N, Elmarakeby H, Salari K, Choudhry H, Al-Rubaish AM, Al-Sulaiman AA, Al-Ali AK, Taylor-Weiner A, Van Allen EM. AlDubayan SH, et al. Among authors: witkowski l. JAMA. 2020 Nov 17;324(19):1957-1969. doi: 10.1001/jama.2020.20457. JAMA. 2020. PMID: 33201204 Free PMC article.
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC. Zeng C, et al. Among authors: witkowski l. JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373. JAMA Oncol. 2022. PMID: 35446370 Free PMC article.
Performance of the McGill Interactive Pediatric OncoGenetic Guidelines for Identifying Cancer Predisposition Syndromes.
Goudie C, Witkowski L, Cullinan N, Reichman L, Schiller I, Tachdjian M, Armstrong L, Blood KA, Brossard J, Brunga L, Cacciotti C, Caswell K, Cellot S, Clark ME, Clinton C, Coltin H, Felton K, Fernandez CV, Fleming AJ, Fuentes-Bolanos N, Gibson P, Grant R, Hammad R, Harrison LW, Irwin MS, Johnston DL, Kane S, Lafay-Cousin L, Lara-Corrales I, Larouche V, Mathews N, Meyn MS, Michaeli O, Perrier R, Pike M, Punnett A, Ramaswamy V, Say J, Somers G, Tabori U, Thibodeau ML, Toupin AK, Tucker KM, van Engelen K, Vairy S, Waespe N, Warby M, Wasserman JD, Whitlock JA, Sinnett D, Jabado N, Nathan PC, Shlien A, Kamihara J, Deyell RJ, Ziegler DS, Nichols KE, Dendukuri N, Malkin D, Villani A, Foulkes WD. Goudie C, et al. Among authors: witkowski l. JAMA Oncol. 2021 Dec 1;7(12):1806-1814. doi: 10.1001/jamaoncol.2021.4536. JAMA Oncol. 2021. PMID: 34617981 Free PMC article.
Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
Ouchene L, Wilde B, Chan-Pak-Choon F, Camacho Valenzuela J, Brimo F, Witkowski L, Christofk H, Domecq C, Fu L, Weber E, Lemieux Anglin B, Netchiporouk E, Foulkes WD. Ouchene L, et al. Among authors: witkowski l. Genes Chromosomes Cancer. 2024 Feb;63(2):e23221. doi: 10.1002/gcc.23221. Genes Chromosomes Cancer. 2024. PMID: 38682608
158 results