Publications:

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: Y833H

PubMed Link: 31983222

Variant Present in the following documents:

• Main text

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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: 2497T>C; Tyr833His

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

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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: Y833H

PubMed Link: 29073106

Variant Present in the following documents:

• pnas.1711303114.sapp.pdf

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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: 2497T>C; Tyr833His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: MYH7: 2497T>C; Y833H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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