Publications:

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Integrating comparative modeling and accelerated simulations reveals conformational and energetic basis of actomyosin force generation.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ma, Wen W; You, Shengjun S; Regnier, Michael M; McCammon, J Andrew JA

Publication Date: 2023-02-28

Variant appearance in text: MYH7: R237W

PubMed Link: 36802417

Variant Present in the following documents:

• pnas.202215836.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: MYH7: 709C>T; Arg237Trp

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: MYH7: 709C>T; R237W

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 6

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 709C>T; R237W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Three perspectives on the molecular basis of hypercontractility caused by hypertrophic cardiomyopathy mutations.

Pflugers Archiv : European Journal Of Physiology

Spudich, James A JA

Publication Date: 2019-05

Variant appearance in text: MYH7: R237W

PubMed Link: 30767072

Variant Present in the following documents:

• 424_2019_Article_2259.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: R237W

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

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Controlling load-dependent kinetics of β-cardiac myosin at the single-molecule level.

Nature Structural & Molecular Biology

Liu, Chao C; Kawana, Masataka M; Song, Dan D; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2018-06

Variant appearance in text: MYH7: R237W

PubMed Link: 29867217

Variant Present in the following documents:

• Main text
• nihms-963495.pdf

View BVdb publication page

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Dilated cardiomyopathy myosin mutants have reduced force-generating capacity.

The Journal Of Biological Chemistry

Ujfalusi, Zoltan Z; Vera, Carlos D CD; Mijailovich, Srbolujub M SM; Svicevic, Marina M; Yu, Elizabeth Choe EC; Kawana, Masataka M; Ruppel, Kathleen M KM; Spudich, James A JA; Geeves, Michael A MA; Leinwand, Leslie A LA

Publication Date: 2018-06-08

Variant appearance in text: MYH7: R237W

PubMed Link: 29666183

Variant Present in the following documents:

• Main text

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: 709C>T; Arg237Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations.

Plos One

Franaszczyk, Maria M; Chmielewski, Przemyslaw P; Truszkowska, Grazyna G; Stawinski, Piotr P; Michalak, Ewa E; Rydzanicz, Malgorzata M; Sobieszczanska-Malek, Malgorzata M; Pollak, Agnieszka A; Szczygieł, Justyna J; Kosinska, Joanna J; Parulski, Adam A; Stoklosa, Tomasz T; Tarnowska, Agnieszka A; Machnicki, Marcin M MM; Foss-Nieradko, Bogna B; Szperl, Malgorzata M; Sioma, Agnieszka A; Kusmierczyk, Mariusz M; Grzybowski, Jacek J; Zielinski, Tomasz T; Ploski, Rafal R; Bilinska, Zofia T ZT

Publication Date: 2017

Variant appearance in text: MYH7: Arg237Trp

PubMed Link: 28045975

Variant Present in the following documents:

• Main text
• pone.0169007.pdf

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Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

Clinical And Translational Science

Hershberger, Ray E RE; Parks, Sharie B SB; Kushner, Jessica D JD; Li, Duanxiang D; Ludwigsen, Susan S; Jakobs, Petra P; Nauman, Deirdre D; Burgess, Donna D; Partain, Julie J; Litt, Michael M

Publication Date: 2008-05

Variant appearance in text: MYH7: Arg237Trp

PubMed Link: 19412328

Variant Present in the following documents:

• Main text

View BVdb publication page

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