Publications:

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: 2707G>C; Glu903Gln

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: MYH7: E903Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Journal Of The American College Of Cardiology

Coppini, Raffaele R; Ho, Carolyn Y CY; Ashley, Euan E; Day, Sharlene S; Ferrantini, Cecilia C; Girolami, Francesca F; Tomberli, Benedetta B; Bardi, Sara S; Torricelli, Francesca F; Cecchi, Franco F; Mugelli, Alessandro A; Poggesi, Corrado C; Tardiff, Jil J; Olivotto, Iacopo I

Publication Date: 2014-12-23

Variant appearance in text: MYH7: 2707G>C; Glu903Gln

PubMed Link: 25524337

Variant Present in the following documents:

• mmc1.pdf

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Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

Circulation. Heart Failure

Theis, Jeanne L JL; Bos, J Martijn JM; Theis, Jason D JD; Miller, Dylan V DV; Dearani, Joseph A JA; Schaff, Hartzell V HV; Gersh, Bernard J BJ; Ommen, Steve R SR; Moss, Richard L RL; Ackerman, Michael J MJ

Publication Date: 2009-07

Variant appearance in text: MYH7: E903Q

PubMed Link: 19808356

Variant Present in the following documents:

• Main text

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