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: 1594T>C; Ser532Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 1594T>C; Ser532Pro; rs121913642

PubMed Link: 36140722

Variant Present in the following documents:

• Main text
• genes-13-01554.pdf

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: MYH7: 1594T>C

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

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A Comprehensive Outlook on Dilated Cardiomyopathy (DCM): State-Of-The-Art Developments with Special Emphasis on OMICS-Based Approaches.

Journal Of Cardiovascular Development And Disease

Sarohi, Vivek V; Srivastava, Shriya S; Basak, Trayambak T

Publication Date: 2022-06-01

Variant appearance in text: MYH7: Ser532Pro

PubMed Link: 35735803

Variant Present in the following documents:

• Main text
• jcdd-09-00174.pdf

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Cardiomyocyte Dysfunction in Inherited Cardiomyopathies.

International Journal Of Molecular Sciences

Hassoun, Roua R; Budde, Heidi H; Mügge, Andreas A; Hamdani, Nazha N

Publication Date: 2021-10-15

Variant appearance in text: MYH7: S532P

PubMed Link: 34681814

Variant Present in the following documents:

• Main text
• ijms-22-11154.pdf

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Myosin dilated cardiomyopathy mutation S532P disrupts actomyosin interactions, leading to altered muscle kinetics, reduced locomotion, and cardiac dilation in Drosophila.

Molecular Biology Of The Cell

Trujillo, Adriana S AS; Hsu, Karen H KH; Puthawala, Joy J; Viswanathan, Meera C MC; Loya, Amy A; Irving, Thomas C TC; Cammarato, Anthony A; Swank, Douglas M DM; Bernstein, Sanford I SI

Publication Date: 2021-08-19

Variant appearance in text: MYH7: S532P

PubMed Link: 34081531

Variant Present in the following documents:

• Main text
• mbc-32-1690.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: MYH7: 1594T>C; Ser532Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.

International Journal Of Molecular Sciences

Tsukamoto, Osamu O

Publication Date: 2019-12-28

Variant appearance in text: MYH7: S532P

PubMed Link: 31905684

Variant Present in the following documents:

• Main text
• ijms-21-00226.pdf

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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: 1594T>C; S532P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: MYH7: 1594T>C; Ser532Pro

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 6
• 13073_2019_683_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Mix and (mis-)match - The mechanosensing machinery in the changing environment of the developing, healthy adult and diseased heart.

Biochimica Et Biophysica Acta. Molecular Cell Research

Ward, Matthew M; Iskratsch, Thomas T

Publication Date: 2020-03

Variant appearance in text: MYH7: Ser532Pro

PubMed Link: 30742931

Variant Present in the following documents:

• Main text
• main.pdf

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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: S532P; rs121913642

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: S532P

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: S532P

PubMed Link: 29666183

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biophysical Derangements in Genetic Cardiomyopathies.

Heart Failure Clinics

Lynn, Melissa L ML; Lehman, Sarah J SJ; Tardiff, Jil C JC

Publication Date: 2018-04

Variant appearance in text: MYH7: S532P

PubMed Link: 29525644

Variant Present in the following documents:

• Main text

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Sarcomeric perturbations of myosin motors lead to dilated cardiomyopathy in genetically modified MYL2 mice.

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

Yuan, Chen-Ching CC; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Zhou, Zhiqun Z; Yadav, Sunil S; Gomes, Aldrin V AV; Irving, Thomas C TC; Szczesna-Cordary, Danuta D

Publication Date: 2018-03-06

Variant appearance in text: MYH7: S532P

PubMed Link: 29463717

Variant Present in the following documents:

• Main text
• pnas.201716925.pdf

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

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

Kelly, Melissa A MA; Caleshu, Colleen C; Morales, Ana A; Buchan, Jillian J; Wolf, Zena Z; Harrison, Steven M SM; Cook, Stuart S; Dillon, Mitchell W MW; Garcia, John J; Haverfield, Eden E; Jongbloed, Jan D H JDH; Macaya, Daniela D; Manrai, Arjun A; Orland, Kate K; Richard, Gabriele G; Spoonamore, Katherine K; Thomas, Matthew M; Thomson, Kate K; Vincent, Lisa M LM; Walsh, Roddy R; Watkins, Hugh H; Whiffin, Nicola N; Ingles, Jodie J; van Tintelen, J Peter JP; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray R; Funke, Birgit B

Publication Date: 2018-03

Variant appearance in text: MYH7: Ser532Pro

PubMed Link: 29300372

Variant Present in the following documents:

• gim2017218x2.pdf

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Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife

Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R

Publication Date: 2017-06-13

Variant appearance in text: MYH7: S532P

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.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: 1594T>C; Ser532Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Genetic Variations Leading to Familial Dilated Cardiomyopathy.

Molecules And Cells

Cho, Kae Won KW; Lee, Jongsung J; Kim, Youngjo Y

Publication Date: 2016-10

Variant appearance in text: MYH7: S532P

PubMed Link: 27802374

Variant Present in the following documents:

• Main text
• molce-39-10-722.pdf

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HEART DISEASE. Throttling back the heart's molecular motor.

Science (New York, N.Y.)

Warshaw, David M DM

Publication Date: 2016-02-05

Variant appearance in text: MYH7: S532P

PubMed Link: 26912685

Variant Present in the following documents:

• Main text

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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: S532P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: S532P

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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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: MYH7: 1594T>C

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Research priorities in sarcomeric cardiomyopathies.

Cardiovascular Research

van der Velden, Jolanda J; Ho, Carolyn Y CY; Tardiff, Jil C JC; Olivotto, Iacopo I; Knollmann, Bjorn C BC; Carrier, Lucie L

Publication Date: 2015-04-01

Variant appearance in text: MYH7: S532P

PubMed Link: 25631582

Variant Present in the following documents:

• Main text

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Genetics and disease of ventricular muscle.

Cold Spring Harbor Perspectives In Medicine

Fatkin, Diane D; Seidman, Christine E CE; Seidman, Jonathan G JG

Publication Date: 2014-01-01

Variant appearance in text: MYH7: S532P

PubMed Link: 24384818

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

European Journal Of Human Genetics : Ejhg

Tajsharghi, Homa H; Hammans, Simon S; Lindberg, Christopher C; Lossos, Alexander A; Clarke, Nigel F NF; Mazanti, Ingrid I; Waddell, Leigh B LB; Fellig, Yakov Y; Foulds, Nicola N; Katifi, Haider H; Webster, Richard R; Raheem, Olayinka O; Udd, Bjarne B; Argov, Zohar Z; Oldfors, Anders A

Publication Date: 2014-06

Variant appearance in text: MYH7: Ser532Pro

PubMed Link: 24193343

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heuristic methods for finding pathogenic variants in gene coding sequences.

Journal Of The American Heart Association

Ohanian, Monique M; Otway, Robyn R; Fatkin, Diane D

Publication Date: 2012-10

Variant appearance in text: MYH7: S532P

PubMed Link: 23316295

Variant Present in the following documents:

• Main text
• jah387-1-e002642.pdf

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Genetic mutations and mechanisms in dilated cardiomyopathy.

The Journal Of Clinical Investigation

McNally, Elizabeth M EM; Golbus, Jessica R JR; Puckelwartz, Megan J MJ

Publication Date: 2013-01

Variant appearance in text: MYH7: S532P

PubMed Link: 23281406

Variant Present in the following documents:

• Main text

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It's never too early to look: subclinical disease in sarcomeric dilated cardiomyopathy.

Circulation. Cardiovascular Genetics

Tardiff, Jil C JC

Publication Date: 2012-10-01

Variant appearance in text: MYH7: S532P

PubMed Link: 23074334

Variant Present in the following documents:

• Main text

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Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy.

Circulation. Cardiovascular Genetics

Lakdawala, Neal K NK; Thune, Jens J JJ; Colan, Steven D SD; Cirino, Allison L AL; Farrohi, Faranak F; Rivero, Jose J; McDonough, Barbara B; Sparks, Elizabeth E; Orav, E J EJ; Seidman, J G JG; Seidman, Christine E CE; Ho, Carolyn Y CY

Publication Date: 2012-10-01

Variant appearance in text: MYH7: S532P

PubMed Link: 22949430

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

Progress In Pediatric Cardiology

Rampersaud, Evadnie E; Siegfried, Jill D JD; Norton, Nadine N; Li, Duanxiang D; Martin, Eden E; Hershberger, Ray E RE

Publication Date: 2011-01-01

Variant appearance in text: MYH7: Ser532Pro

PubMed Link: 21483645

Variant Present in the following documents:

• Main text

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Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy.

Progress In Pediatric Cardiology

Frazier, Aisha H AH; Ramirez-Correa, Genaro A GA; Murphy, Anne M AM

Publication Date: 2011-01-01

Variant appearance in text: MYH7: S532P

PubMed Link: 21297871

Variant Present in the following documents:

• Main text

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Insights into human beta-cardiac myosin function from single molecule and single cell studies.

Journal Of Cardiovascular Translational Research

Sivaramakrishnan, Sivaraj S; Ashley, Euan E; Leinwand, Leslie L; Spudich, James A JA

Publication Date: 2009-12

Variant appearance in text: MYH7: S532P

PubMed Link: 20560001

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: MYH7: S532P

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 1

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: S532P

PubMed Link: 18555187

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic causes of human heart failure.

The Journal Of Clinical Investigation

Morita, Hiroyuki H; Seidman, Jonathan J; Seidman, Christine E CE

Publication Date: 2005-03

Variant appearance in text: MYH7: Ser532Pro

PubMed Link: 15765133

Variant Present in the following documents:

• Main text

View BVdb publication page

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