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Year Number of Results
2012 1
2013 1
2014 3
2015 5
2016 5
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2019 4
2020 7
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2024 1

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43 results

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Page 1
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.
Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines.
Tischkowitz M, Huang S, Banerjee S, Hague J, Hendricks WPD, Huntsman DG, Lang JD, Orlando KA, Oza AM, Pautier P, Ray-Coquard I, Trent JM, Witcher M, Witkowski L, McCluggage WG, Levine DA, Foulkes WD, Weissman BE. Tischkowitz M, et al. Among authors: witkowski l. Clin Cancer Res. 2020 Aug 1;26(15):3908-3917. doi: 10.1158/1078-0432.CCR-19-3797. Epub 2020 Mar 10. Clin Cancer Res. 2020. PMID: 32156746 Free PMC article. Review.
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
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. 2021 Sep 13;12(1):5404. doi: 10.1038/s41467-021-25260-9. Nat Commun. 2021. PMID: 34518526 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.
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.
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.
43 results