Richardson M - Search Results

1

Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers.

Lerner BA, Giner-Calabuig M, Carraway C, Richardson M, Krahn K, Susswein L, Nielsen SM, Karam R, Xicola RM, Llor X. Lerner BA, et al. Among authors: richardson m. J Med Genet. 2024 Dec 14:jmg-2024-110446. doi: 10.1136/jmg-2024-110446. Online ahead of print. J Med Genet. 2024. PMID: 39674581

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. 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

Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.

Hernandez F, Conner BR, Richardson ME, LaDuca H, Chao E, Pesaran T, Karam R. Hernandez F, et al. Cold Spring Harb Mol Case Stud. 2022 Jan 10;8(1):a006152. doi: 10.1101/mcs.a006152. Print 2022 Jan. Cold Spring Harb Mol Case Stud. 2022. PMID: 34716202 Free PMC article.

6

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN.

Fayer S, Horton C, Dines JN, Rubin AF, Richardson ME, McGoldrick K, Hernandez F, Pesaran T, Karam R, Shirts BH, Fowler DM, Starita LM. Fayer S, et al. Among authors: richardson me. Am J Hum Genet. 2021 Dec 2;108(12):2248-2258. doi: 10.1016/j.ajhg.2021.11.001. Epub 2021 Nov 17. Am J Hum Genet. 2021. PMID: 34793697 Free PMC article.

7

RNA-Seq Analysis Is a Useful Tool in Variant Classification.

Karam R, LaDuca H, Richardson ME, Pesaran T, Chao E. Karam R, et al. JCO Precis Oncol. 2020 Nov;4:1226-1227. doi: 10.1200/PO.20.00310. JCO Precis Oncol. 2020. PMID: 35050778 No abstract available.

8

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.

9

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. 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.

10

CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.

Fortuno C, Richardson M, Pesaran T, Yussuf A, Horton C, James PA, Spurdle AB. Fortuno C, et al. Among authors: richardson m. J Med Genet. 2023 Nov 27;60(12):1215-1217. doi: 10.1136/jmg-2023-109464. J Med Genet. 2023. PMID: 37536919

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