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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Fortuno C, et al. Among authors: witkowski l. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300245 Free PMC article.
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Lee K, Krempely K, Roberts ME, Anderson MJ, Carneiro F, Chao E, Dixon K, Figueiredo J, Ghosh R, Huntsman D, Kaurah P, Kesserwan C, Landrith T, Li S, Mensenkamp AR, Oliveira C, Pardo C, Pesaran T, Richardson M, Slavin TP, Spurdle AB, Trapp M, Witkowski L, Yi CS, Zhang L, Plon SE, Schrader KA, Karam R. Lee K, et al. Among authors: witkowski l. Hum Mutat. 2018 Nov;39(11):1553-1568. doi: 10.1002/humu.23650. Hum Mutat. 2018. PMID: 30311375 Free PMC article.
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J, Goldstein J, Thaxton C, Caleshu C, Corty EW, Crowley SB, Dougherty K, Harrison SM, McGlaughon J, Milko LV, Morales A, Seifert BA, Strande N, Thomson K, Peter van Tintelen J, Wallace K, Walsh R, Wells Q, Whiffin N, Witkowski L, Semsarian C, Ware JS, Hershberger RE, Funke B. Ingles J, et al. Among authors: witkowski l. Circ Genom Precis Med. 2019 Feb;12(2):e002460. doi: 10.1161/CIRCGEN.119.002460. Circ Genom Precis Med. 2019. PMID: 30681346 Free PMC article.
Germline pathogenic SMARCA4 variants in neuroblastoma.
Witkowski L, Nichols KE, Jongmans M, van Engelen N, de Krijger RR, Herrera-Mullar J, Tytgat L, Bahrami A, Mar Fan H, Davidson AL, Robertson T, Anderson M, Hasselblatt M, Plon SE, Foulkes WD. Witkowski L, et al. J Med Genet. 2023 Oct;60(10):987-992. doi: 10.1136/jmg-2022-108854. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813544
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR. Hatton JN, et al. Among authors: witkowski l. Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29. Hum Mutat. 2023. PMID: 38084291 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.
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.
158 results