Publications:

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Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology

Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R

Publication Date: 2022-01-21

Variant appearance in text: MYH7: Gly425Arg

PubMed Link: 35061126

Variant Present in the following documents:

• Main text
• 43044_2022_Article_240.pdf

View BVdb publication page

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Genetic predisposition study of heart failure and its association with cardiomyopathy.

The Egyptian Heart Journal : (Ehj) : Official Bulletin Of The Egyptian Society Of Cardiology

Kaviarasan, Vaishak V; Mohammed, Vajagathali V; Veerabathiran, Ramakrishnan R

Publication Date: 2022-01-21

Variant appearance in text: MYH7: Gly425Arg

PubMed Link: 35061126

Variant Present in the following documents:

• Main text
• 43044_2022_Article_240.pdf

View BVdb publication page

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Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.

Chinese Medical Journal

Liu, Hui-Ting HT; Ji, Fang-Fang FF; Wei, Ling L; Zuo, An-Jun AJ; Gao, Yu-Xiu YX; Qi, Lin L; Jin, Bu B; Wang, Ji-Gang JG; Zhao, Peng P

Publication Date: 2019-12-05

Variant appearance in text: MYH7: Gly425Arg

PubMed Link: 31856055

Variant Present in the following documents:

• Main text
• cm9-132-2835.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: 1273G>A; Gly425Arg

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYH7: G425R

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: 1273G>A; Gly425Arg

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

View BVdb publication page

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Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Scientific Reports

Wang, Jie J; Wan, Ke K; Sun, Jiayu J; Li, Weihao W; Liu, Hong H; Han, Yuchi Y; Chen, Yucheng Y

Publication Date: 2018-01-17

Variant appearance in text: MYH7: Gly425Arg

PubMed Link: 29343710

Variant Present in the following documents:

• Main text
• 41598_2018_Article_19372.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: 1273G>A; Gly425Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CMH1: G425R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYH7: G425R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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