Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MYH7: 667G>A; Ala223Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genetic Association of Beta-Myosin Heavy-Chain Gene (MYH7) with Cardiac Dysfunction.

Genes

Yousaf, Memoona M; Khan, Waqas Ahmed WA; Shahzad, Khurrum K; Khan, Haq Nawaz HN; Ali, Basharat B; Hussain, Misbah M; Awan, Fazli Rabbi FR; Mustafa, Hamid H; Sheikh, Farah Nadia FN

Publication Date: 2022-08-29

Variant appearance in text: MYH7: 667G>A; Ala223Thr; rs121913645

PubMed Link: 36140722

Variant Present in the following documents:

• Main text
• genes-13-01554.pdf

View BVdb publication page

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Disease mutations in striated muscle myosins.

Biophysical Reviews

Parker, Francine F; Peckham, Michelle M

Publication Date: 2020-08

Variant appearance in text: MYH7: Ala223Thr

PubMed Link: 32651905

Variant Present in the following documents:

• 12551_2020_721_MOESM1_ESM.pdf

View BVdb publication page

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Conformational distributions of isolated myosin motor domains encode their mechanochemical properties.

Elife

Porter, Justin R JR; Meller, Artur A; Zimmerman, Maxwell I MI; Greenberg, Michael J MJ; Bowman, Gregory R GR

Publication Date: 2020-05-29

Variant appearance in text: MYH7: A223T

PubMed Link: 32479265

Variant Present in the following documents:

• Main text
• elife-55132.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MYH7: 667G>A; A223T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYH7: A223T; rs121913645

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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: A223T

PubMed Link: 29867217

Variant Present in the following documents:

• Main text
• nihms-963495.pdf

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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: A223T

PubMed Link: 29666183

Variant Present in the following documents:

• Main text

View BVdb publication page

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: MYH7: 667G>A; A223T

PubMed Link: 27930701

Variant Present in the following documents:

• pone.0167358.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CMH1: A223T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MYH7: A223T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutations.

Trends In Cardiovascular Medicine

Buvoli, Massimo M; Hamady, Micah M; Leinwand, Leslie A LA; Knight, Rob R

Publication Date: 2008-05

Variant appearance in text: MYH7: A223T

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

View BVdb publication page

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