Publications:

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Diagnostics (Basel, Switzerland)

Sepp, Róbert R; Hategan, Lidia L; Csányi, Beáta B; Borbás, János J; Tringer, Annamária A; Pálinkás, Eszter Dalma ED; Nagy, Viktória V; Takács, Hedvig H; Latinovics, Dóra D; Nyolczas, Noémi N; Pálinkás, Attila A; Faludi, Réka R; Rábai, Miklós M; Szabó, Gábor Tamás GT; Czuriga, Dániel D; Balogh, László L; Halmosi, Róbert R; Borbély, Attila A; Habon, Tamás T; Hegedűs, Zoltán Z; Nagy, István I

Publication Date: 2022-05-03

Variant appearance in text: MYH7: Glu1039Gly

PubMed Link: 35626289

Variant Present in the following documents:

• Main text
• diagnostics-12-01132.pdf

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Genetic Variants Associated With Sudden Cardiac Death in Victims With Single Vessel Coronary Artery Disease and Left Ventricular Hypertrophy With or Without Fibrosis.

Frontiers In Cardiovascular Medicine

Vähätalo, Juha H JH; Holmström, Lauri T A LTA; Pylkäs, Katri K; Skarp, Sini S; Porvari, Katja K; Pakanen, Lasse L; Kaikkonen, Kari S KS; Perkiömäki, Juha S JS; Kerkelä, Risto R; Huikuri, Heikki V HV; Myerburg, Robert J RJ; Junttila, M Juhani MJ

Publication Date: 2021

Variant appearance in text: MYH7: 3116A>G; Glu1039Gly

PubMed Link: 35087879

Variant Present in the following documents:

• Main text
• fcvm-08-755062.pdf

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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: E1039G

PubMed Link: 31983222

Variant Present in the following documents:

• Main text
• cir-141-828-s001.pdf

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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: 3116A>G; Glu1039Gly; rs199573700

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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