Publications:

Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.

Plos One

Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J

Publication Date: 2020

Variant appearance in text: MYH7: S782R

PubMed Link: 32369506

Variant Present in the following documents:

• Main text
• pone.0232427.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: Ser782Arg

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

Circulation Research

Sequeira, Vasco V; Wijnker, Paul J M PJ; Nijenkamp, Louise L A M LL; Kuster, Diederik W D DW; Najafi, Aref A; Witjas-Paalberends, E Rosalie ER; Regan, Jessica A JA; Boontje, Nicky N; Ten Cate, Folkert J FJ; Germans, Tjeerd T; Carrier, Lucie L; Sadayappan, Sakthivel S; van Slegtenhorst, Marjon A MA; Zaremba, Ruud R; Foster, D Brian DB; Murphy, Anne M AM; Poggesi, Corrado C; Dos Remedios, Cris C; Stienen, Ger J M GJ; Ho, Carolyn Y CY; Michels, Michelle M; van der Velden, Jolanda J

Publication Date: 2013-05-24

Variant appearance in text: MYH7: S782R

PubMed Link: 23508784

Variant Present in the following documents:

• Main text

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The MYH7 p.R787H mutation causes hypertrophic cardiomyopathy in two unrelated families.

Experimental And Clinical Cardiology

Purushotham, G G; Madhumohan, K K; Anwaruddin, Mohammad M; Nagarajaram, Ha H; Hariram, Vuppaladadhiam V; Narasimhan, Calambur C; Bashyam, Murali D MD

Publication Date: 2010

Variant appearance in text: MYH7: S782R

PubMed Link: 20664766

Variant Present in the following documents:

• Main text

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