Richardson ME - Search Results

1

Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.

Herrera-Mullar J, Fulk K, Brannan T, Yussuf A, Polfus L, Richardson ME, Horton C. Herrera-Mullar J, et al. Among authors: richardson me. Genet Med. 2023 Nov;25(11):100937. doi: 10.1016/j.gim.2023.100937. Epub 2023 Jul 17. Genet Med. 2023. PMID: 37466057 Free article.

2

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.

Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A. Richardson ME, et al. Genet Med. 2019 Mar;21(3):683-693. doi: 10.1038/s41436-018-0092-7. Epub 2018 Jul 28. Genet Med. 2019. PMID: 30054569 Free PMC article.

3

Correction: DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes.

Richardson ME, Chong H, Mu W, Conner BR, Hsuan V, Willett S, Lam S, Tsai P, Pesaran T, Chamberlin AC, Park MS, Gray P, Karam R, Elliott A. Richardson ME, et al. Genet Med. 2019 Jul;21(7):1669. doi: 10.1038/s41436-018-0276-1. Genet Med. 2019. PMID: 30127414 Free PMC article.

4

Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.

Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E. Karam R, et al. Among authors: richardson me. JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900. JAMA Netw Open. 2019. PMID: 31642931 Free PMC article.

5

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.

Lyra PCM Jr, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS Jr, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA. Lyra PCM Jr, et al. Genet Med. 2021 Feb;23(2):306-315. doi: 10.1038/s41436-020-00991-0. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087888 Free PMC article.

6

Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.

Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ. Richardson ME, et al. Am J Hum Genet. 2021 Mar 4;108(3):458-468. doi: 10.1016/j.ajhg.2021.02.005. Epub 2021 Feb 19. Am J Hum Genet. 2021. PMID: 33609447 Free PMC article.

7

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics.

Bychkovsky BL, Lo MT, Yussuf A, Horton C, Richardson M, LaDuca H, Garber JE, Rana HQ. Bychkovsky BL, et al. Cancer. 2022 Mar 15;128(6):1275-1283. doi: 10.1002/cncr.34056. Epub 2021 Dec 7. Cancer. 2022. PMID: 34875721 Free article.

8

Universal Germline Panel Testing for Individuals With Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.

Horton C, LaDuca H, Deckman A, Durda K, Jackson M, Richardson ME, Tian Y, Yussuf A, Jasperson K, Else T. Horton C, et al. Among authors: richardson me. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1917-e1923. doi: 10.1210/clinem/dgac014. J Clin Endocrinol Metab. 2022. PMID: 35026032 Free PMC article.

9

Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.

Bychkovsky BL, Agaoglu NB, Horton C, Zhou J, Yussuf A, Hemyari P, Richardson ME, Young C, LaDuca H, McGuinness DL, Scheib R, Garber JE, Rana HQ. Bychkovsky BL, et al. Among authors: richardson me. JAMA Oncol. 2022 Nov 1;8(11):1598-1606. doi: 10.1001/jamaoncol.2022.4071. JAMA Oncol. 2022. PMID: 36136322 Free PMC article.

10

Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C.

Hu C, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. Hu C, et al. Among authors: richardson me. Cancer Res. 2023 Aug 1;83(15):2557-2571. doi: 10.1158/0008-5472.CAN-22-2319. Cancer Res. 2023. PMID: 37253112 Free PMC article.

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