Soper ER - Search Results

1

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: soper er. Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29. Hum Mutat. 2023. PMID: 38084291 Free PMC article.

2

Genetic Variants in Patients With a Family History of Pancreatic Cancer: Impact of Multigene Panel Testing.

Zhu H, Welinsky S, Soper ER, Brown KL, Abul-Husn NS, Lucas AL. Zhu H, et al. Among authors: soper er. Pancreas. 2021 Apr 1;50(4):602-606. doi: 10.1097/MPA.0000000000001804. Pancreas. 2021. PMID: 33939675

3

Elective genetic testing: Genetics professionals' perspectives and practices.

Miura MS, Suckiel SA, Naik H, Soper ER, Abul-Husn NS. Miura MS, et al. Among authors: soper er. J Genet Couns. 2023 Jun;32(3):607-617. doi: 10.1002/jgc4.1666. Epub 2022 Dec 27. J Genet Couns. 2023. PMID: 36575824

4

Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis.

Soper ER, Suckiel SA, Braganza GT, Kontorovich AR, Kenny EE, Abul-Husn NS. Soper ER, et al. J Pers Med. 2021 Jan 15;11(1):49. doi: 10.3390/jpm11010049. J Pers Med. 2021. PMID: 33467513 Free PMC article.

5

CDH1 pathogenic variants and cancer risk in an unselected patient population.

Bar-Mashiah A, Soper ER, Cullina S, Belbin GM, Kenny EE, Lucas AL, Abul-Husn NS. Bar-Mashiah A, et al. Among authors: soper er. Fam Cancer. 2022 Apr;21(2):235-239. doi: 10.1007/s10689-021-00257-x. Epub 2021 Apr 22. Fam Cancer. 2022. PMID: 33886068 Free PMC article.

6

Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.

Rutledge SM, Soper ER, Ma N, Pejaver V, Friedman SL, Branch AD, Kenny EE, Belbin GM, Abul-Husn NS. Rutledge SM, et al. Among authors: soper er. Clin Gastroenterol Hepatol. 2023 Sep;21(10):2578-2587.e11. doi: 10.1016/j.cgh.2022.12.025. Epub 2023 Jan 5. Clin Gastroenterol Hepatol. 2023. PMID: 36610497

7

Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

Rosenblum RE, Ang C, Suckiel SA, Soper ER, Sigireddi MR, Cullina S, Belbin GM, Lucas AL, Kenny EE, Abul-Husn NS. Rosenblum RE, et al. Among authors: soper er. JCO Precis Oncol. 2020 Nov 23;4:PO.20.00290. doi: 10.1200/PO.20.00290. eCollection 2020. JCO Precis Oncol. 2020. PMID: 33283134 Free PMC article.

8

Implementing genomic screening in diverse populations.

Abul-Husn NS, Soper ER, Braganza GT, Rodriguez JE, Zeid N, Cullina S, Bobo D, Moscati A, Merkelson A, Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE. Abul-Husn NS, et al. Among authors: soper er. Genome Med. 2021 Feb 5;13(1):17. doi: 10.1186/s13073-021-00832-y. Genome Med. 2021. PMID: 33546753 Free PMC article.

9

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Abul-Husn NS, Soper ER, Odgis JA, Cullina S, Bobo D, Moscati A, Rodriguez JE; CBIPM Genomics Team; Regeneron Genetics Center; Loos RJF, Cho JH, Belbin GM, Suckiel SA, Kenny EE. Abul-Husn NS, et al. Among authors: soper er. Genome Med. 2019 Dec 31;12(1):2. doi: 10.1186/s13073-019-0691-1. Genome Med. 2019. PMID: 31892343 Free PMC article.

10

Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer.

Clark DF, Michalski ST, Tondon R, Nehoray B, Ebrahimzadeh J, Hughes SK, Soper ER, Domchek SM, Rustgi AK, Pineda-Alvarez D, Anderson MJ, Katona BW. Clark DF, et al. Among authors: soper er. Genet Med. 2020 May;22(5):840-846. doi: 10.1038/s41436-020-0753-1. Epub 2020 Feb 13. Genet Med. 2020. PMID: 32051609 Free PMC article.

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