Publications:

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYH7: 3152C>T

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation

Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL

Publication Date: 2022-08

Variant appearance in text: MYH7: 3152C>T; Ala1051Val

PubMed Link: 34923710

Variant Present in the following documents:

• HUMU-43-1114-s002.xlsx, sheet 1

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Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Bick, Alexander G AG; Wakimoto, Hiroko H; Kamer, Kimberli J KJ; Sancak, Yasemin Y; Goldberger, Olga O; Axelsson, Anna A; DeLaughter, Daniel M DM; Gorham, Joshua M JM; Mootha, Vamsi K VK; Seidman, J G JG; Seidman, Christine E CE

Publication Date: 2017-10-24

Variant appearance in text: MYH7: A1051V

PubMed Link: 29073106

Variant Present in the following documents:

• pnas.1711303114.sapp.pdf

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Genetic testing for dilated cardiomyopathy in clinical practice.

Journal Of Cardiac Failure

Lakdawala, Neal K NK; Funke, Birgit H BH; Baxter, Samantha S; Cirino, Allison L AL; Roberts, Amy E AE; Judge, Daniel P DP; Johnson, Nicole N; Mendelsohn, Nancy J NJ; Morel, Chantal C; Care, Melanie M; Chung, Wendy K WK; Jones, Carolyn C; Psychogios, Apostolos A; Duffy, Elizabeth E; Rehm, Heidi L HL; White, Emily E; Seidman, J G JG; Seidman, Christine E CE; Ho, Carolyn Y CY

Publication Date: 2012-04

Variant appearance in text: MYH7: A1051V

PubMed Link: 22464770

Variant Present in the following documents:

• Main text

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