Publications:

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Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Journal Of Human Genetics

Chetruengchai, Wanna W; Shotelersuk, Vorasuk V

Publication Date: 2022-03

Variant appearance in text: MYH7: 677C>T; Ala226Val

PubMed Link: 34621001

Variant Present in the following documents:

• nihms-1795698.pdf

View BVdb publication page

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Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal

Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY

Publication Date: 2021-05-21

Variant appearance in text: MYH7: 677C>T; Ala226Val

PubMed Link: 33769460

Variant Present in the following documents:

• ehab148_supplementary_appendix.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MYH7: 677C>T

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.

Circulation

Marstrand, Peter P; Han, Larry L; Day, Sharlene M SM; Olivotto, Iacopo I; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Wittekind, Samuel G SG; Helms, Adam A; Saberi, Sara S; Jacoby, Daniel D; Ware, James S JS; Colan, Steven D SD; Semsarian, Christopher C; Ingles, Jodie J; Lakdawala, Neal K NK; Ho, Carolyn Y CY; ,

Publication Date: 2020-04-28

Variant appearance in text: MYH7: 677C>T; Ala226Val

PubMed Link: 32228044

Variant Present in the following documents:

• cir-141-1371-s001.pdf

View BVdb publication page

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Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.

Circulation

Toepfer, Christopher N CN; Garfinkel, Amanda C AC; Venturini, Gabriela G; Wakimoto, Hiroko H; Repetti, Giuliana G; Alamo, Lorenzo L; Sharma, Arun A; Agarwal, Radhika R; Ewoldt, Jourdan F JF; Cloonan, Paige P; Letendre, Justin J; Lun, Mingyue M; Olivotto, Iacopo I; Colan, Steve S; Ashley, Euan E; Jacoby, Daniel D; Michels, Michelle M; Redwood, Charles S CS; Watkins, Hugh C HC; Day, Sharlene M SM; Staples, James F JF; Padrón, Raúl R; Chopra, Anant A; Ho, Carolyn Y CY; Chen, Christopher S CS; Pereira, Alexandre C AC; Seidman, Jonathan G JG; Seidman, Christine E CE

Publication Date: 2020-03-10

Variant appearance in text: MYH7: A226V

PubMed Link: 31983222

Variant Present in the following documents:

• Main text
• cir-141-828-s001.pdf

View BVdb publication page

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYH7: Ala226Val

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation

Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I

Publication Date: 2018-10-02

Variant appearance in text: MYH7: 677C>T; Ala226Val

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH7: 677C>T; Ala226Val

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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