Publications:

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Genetic variants, pathophysiological pathways, and oral anticoagulation in patients with hypertrophic cardiomyopathy and atrial fibrillation.

Frontiers In Cardiovascular Medicine

Wang, Shengnan S; Chen, He H; Liu, Chunju C; Wu, Mengxian M; Sun, Wanlei W; Liu, Shenjian S; Zheng, Yan Y; He, Wenfeng W

Publication Date: 2023

Variant appearance in text: MYH7: Arg663His

PubMed Link: 37139132

Variant Present in the following documents:

• fcvm-10-1023394.pdf

View BVdb publication page

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Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Biorxiv : The Preprint Server For Biology

Grinzato, Alessandro A; Auguin, Daniel D; Kikuti, Carlos C; Nandwani, Neha N; Moussaoui, Dihia D; Pathak, Divya D; Kandiah, Eaazhisai E; Ruppel, Kathleen M KM; Spudich, James A JA; Houdusse, Anne A; Robert-Paganin, Julien J

Publication Date: 2023-04-18

Variant appearance in text: MYH7: R663H

PubMed Link: 37131793

Variant Present in the following documents:

• Main text
• nihpp-2023.04.15.536999v1.pdf

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Virus-free transfection, transient expression, and purification of human cardiac myosin in mammalian muscle cells for biochemical and biophysical assays.

Scientific Reports

Velayuthan, Lok Priya LP; Moretto, Luisa L; Tågerud, Sven S; Ušaj, Marko M; Månsson, Alf A

Publication Date: 2023-03-12

Variant appearance in text: MYH7: R663H

PubMed Link: 36907906

Variant Present in the following documents:

• 41598_2023_Article_30576.pdf

View BVdb publication page

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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: 1988G>A; Arg663His

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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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: R663H

PubMed Link: 36802417

Variant Present in the following documents:

• pnas.202215836.pdf

View BVdb publication page

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Cardiac calcium regulation in human induced pluripotent stem cell cardiomyocytes: Implications for disease modeling and maturation.

Frontiers In Cell And Developmental Biology

Ernst, Patrick P; Bidwell, Philip A PA; Dora, Michaela M; Thomas, David D DD; Kamdar, Forum F

Publication Date: 2022

Variant appearance in text: MYH7: R663H

PubMed Link: 36742199

Variant Present in the following documents:

• Main text
• fcell-10-986107.pdf

View BVdb publication page

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Lineage-specific regulatory changes in hypertrophic cardiomyopathy unraveled by single-nucleus RNA-seq and spatial transcriptomics.

Cell Discovery

Liu, Xuanyu X; Yin, Kunlun K; Chen, Liang L; Chen, Wen W; Li, Wenke W; Zhang, Taojun T; Sun, Yang Y; Yuan, Meng M; Wang, Hongyue H; Song, Yunhu Y; Wang, Shuiyun S; Hu, Shengshou S; Zhou, Zhou Z

Publication Date: 2023-01-17

Variant appearance in text: MYH7: 1988G>A; Arg663His

PubMed Link: 36646705

Variant Present in the following documents:

• 41421_2022_490_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Dilated cardiomyopathy mutation E525K in human beta-cardiac myosin stabilizes the interacting-heads motif and super-relaxed state of myosin.

Elife

Rasicci, David V DV; Tiwari, Prince P; Bodt, Skylar M L SML; Desetty, Rohini R; Sadler, Fredrik R FR; Sivaramakrishnan, Sivaraj S; Craig, Roger R; Yengo, Christopher M CM

Publication Date: 2022-11-24

Variant appearance in text: MYH7: R663H

PubMed Link: 36422472

Variant Present in the following documents:

• elife-77415.pdf

View BVdb publication page

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Altered contractility in mutation-specific hypertrophic cardiomyopathy: A mechano-energetic in silico study with pharmacological insights.

Frontiers In Physiology

Forouzandehmehr, Mohamadamin M; Paci, Michelangelo M; Koivumäki, Jussi T JT; Hyttinen, Jari J

Publication Date: 2022

Variant appearance in text: MYH7: R663H

PubMed Link: 36388127

Variant Present in the following documents:

• fphys-13-1010786.pdf

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Hypertrophic cardiomyopathy: Mutations to mechanisms to therapies.

Frontiers In Physiology

Kawana, Masataka M; Spudich, James A JA; Ruppel, Kathleen M KM

Publication Date: 2022

Variant appearance in text: MYH7: Arg663His

PubMed Link: 36225299

Variant Present in the following documents:

• Main text
• fphys-13-975076.pdf

View BVdb publication page

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Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.

Journal Of The American Heart Association

Yang, Qixin Q; Berkman, Amy M AM; Ezekian, Jordan E JE; Rosamilia, Michael M; Rosenfeld, Jill A JA; Liu, Pengfei P; Landstrom, Andrew P AP

Publication Date: 2022-10-04

Variant appearance in text: MYH7: 1988G>A; R663H

PubMed Link: 36129056

Variant Present in the following documents:

• JAH3-11-e025257.pdf
• JAH3-11-e025257-s001.pdf

View BVdb publication page

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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: 1988G>A

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Modeling hypertrophic cardiomyopathy with human cardiomyocytes derived from induced pluripotent stem cells.

Stem Cell Research & Therapy

Li, Jiangtao J; Feng, Xin X; Wei, Xiang X

Publication Date: 2022-06-03

Variant appearance in text: MYH7: R663H

PubMed Link: 35659761

Variant Present in the following documents:

• Main text
• 13287_2022_Article_2905.pdf

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: MYH7: 1988G>A; R663H; rs371898076

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.

Journal Of The American Heart Association

Smith, Emily E; Thompson, Paul D PD; Burke-Martindale, Carolyn C; Weissler-Snir, Adaya A

Publication Date: 2022-05-03

Variant appearance in text: MYH7: 1988G>A

PubMed Link: 35470680

Variant Present in the following documents:

• JAH3-11-e024501.pdf
• JAH3-11-e024501-s001.pdf

View BVdb publication page

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Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.

Npj Genomic Medicine

Lesurf, Robert R; Said, Abdelrahman A; Akinrinade, Oyediran O; Breckpot, Jeroen J; Delfosse, Kathleen K; Liu, Ting T; Yao, Roderick R; Persad, Gabrielle G; McKenna, Fintan F; Noche, Ramil R RR; Oliveros, Winona W; Mattioli, Kaia K; Shah, Shreya S; Miron, Anastasia A; Yang, Qian Q; Meng, Guoliang G; Yue, Michelle Chan Seng MCS; Sung, Wilson W L WWL; Thiruvahindrapuram, Bhooma B; Lougheed, Jane J; Oechslin, Erwin E; Mondal, Tapas T; Bergin, Lynn L; Smythe, John J; Jayappa, Shashank S; Rao, Vinay J VJ; Shenthar, Jayaprakash J; Dhandapany, Perundurai S PS; Semsarian, Christopher C; Weintraub, Robert G RG; Bagnall, Richard D RD; Ingles, Jodie J; , ; Melé, Marta M; Maass, Philipp G PG; Ellis, James J; Scherer, Stephen W SW; Mital, Seema S

Publication Date: 2022-03-14

Variant appearance in text: MYH7: 1988G>A; R663H

PubMed Link: 35288587

Variant Present in the following documents:

• 41525_2022_288_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Critical Evaluation of Current Hypotheses for the Pathogenesis of Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences

Ušaj, Marko M; Moretto, Luisa L; Månsson, Alf A

Publication Date: 2022-02-16

Variant appearance in text: MYH7: R663H

PubMed Link: 35216312

Variant Present in the following documents:

• Main text
• ijms-23-02195.pdf

View BVdb publication page

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Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

Cells

van Wijk, Stan W SW; Su, Wei W; Wijdeveld, Leonoor F J M LFJM; Ramos, Kennedy S KS; Brundel, Bianca J J M BJJM

Publication Date: 2022-01-25

Variant appearance in text: MYH7: R663H

PubMed Link: 35159226

Variant Present in the following documents:

• Main text
• cells-11-00416.pdf

View BVdb publication page

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Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

Cells

van Wijk, Stan W SW; Su, Wei W; Wijdeveld, Leonoor F J M LFJM; Ramos, Kennedy S KS; Brundel, Bianca J J M BJJM

Publication Date: 2022-01-25

Variant appearance in text: MYH7: R663H

PubMed Link: 35159226

Variant Present in the following documents:

• Main text
• cells-11-00416.pdf

View BVdb publication page

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Genetic Testing in Patients with Hypertrophic Cardiomyopathy.

International Journal Of Molecular Sciences

Bonaventura, Jiri J; Polakova, Eva E; Vejtasova, Veronika V; Veselka, Josef J

Publication Date: 2021-09-27

Variant appearance in text: MYH7: 1988G>A

PubMed Link: 34638741

Variant Present in the following documents:

• Main text

View BVdb publication page

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Probing the subcellular nanostructure of engineered human cardiomyocytes in 3D tissue.

Microsystems & Nanoengineering

Javor, Josh J; Ewoldt, Jourdan K JK; Cloonan, Paige E PE; Chopra, Anant A; Luu, Rebeccah J RJ; Freychet, Guillaume G; Zhernenkov, Mikhail M; Ludwig, Karl K; Seidman, Jonathan G JG; Seidman, Christine E CE; Chen, Christopher S CS; Bishop, David J DJ

Publication Date: 2021

Variant appearance in text: MYH7: R663H

PubMed Link: 34567727

Variant Present in the following documents:

• 41378_2020_Article_234.pdf

View BVdb publication page

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Myosin Modulation in Hypertrophic Cardiomyopathy and Systolic Heart Failure: Getting Inside the Engine.

Circulation

Daniels, Matthew J MJ; Fusi, Luca L; Semsarian, Christopher C; Naidu, Srihari S SS

Publication Date: 2021-09-07

Variant appearance in text: MYH7: R663H

PubMed Link: 34491773

Variant Present in the following documents:

• EMS132025.pdf

View BVdb publication page

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: MYH7: 1988G>A; Arg663His

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

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Replication Stress Response Modifies Sarcomeric Cardiomyopathy Remodeling.

Journal Of The American Heart Association

Pal, Soumojit S; Nixon, Benjamin R BR; Glennon, Michael S MS; Shridhar, Puneeth P; Satterfield, Sidney L SL; Su, Yan Ru YR; Becker, Jason R JR

Publication Date: 2021-08-03

Variant appearance in text: MYH7: R663H

PubMed Link: 34323119

Variant Present in the following documents:

• JAH3-10-e021768.pdf
• JAH3-10-e021768-s001.pdf

View BVdb publication page

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Integration of transcriptomic data identifies key hallmark genes in hypertrophic cardiomyopathy.

Bmc Cardiovascular Disorders

Xu, Jing J; Liu, Xiangdong X; Dai, Qiming Q

Publication Date: 2021-07-06

Variant appearance in text: MYH7: Arg663His

PubMed Link: 34225646

Variant Present in the following documents:

• Main text
• 12872_2021_Article_2147.pdf

View BVdb publication page

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: MYH7: 1988G>A

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s001.xlsx, sheet 1
• MGG3-9-e1709-s003.xlsx, sheet 1

View BVdb publication page

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Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Molecular Genetics & Genomic Medicine

Al-Shafai, Kholoud N KN; Al-Hashemi, Mohammed M; Manickam, Chidambaram C; Musa, Rania R; Selvaraj, Senthil S; Syed, Najeeb N; Vempalli, Fazulur F; Ali, Muneera M; Yacoub, Magdi M; Estivill, Xavier X

Publication Date: 2021-07

Variant appearance in text: MYH7: 1988G>A

PubMed Link: 34137518

Variant Present in the following documents:

• MGG3-9-e1709-s003.xlsx, sheet 1
• MGG3-9-e1709-s001.xlsx, sheet 1

View BVdb publication page

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Uncovering Inherited Cardiomyopathy With Human Induced Pluripotent Stem Cells.

Frontiers In Cell And Developmental Biology

Jiang, Xue X; Chen, Yihuan Y; Liu, Xiaofeng X; Ye, Lingqun L; Yu, Miao M; Shen, Zhenya Z; Lei, Wei W; Hu, Shijun S

Publication Date: 2021

Variant appearance in text: MYH7: R663H

PubMed Link: 34079803

Variant Present in the following documents:

• Main text
• fcell-09-672039.pdf

View BVdb publication page

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Mutations in myosin S2 alter cardiac myosin-binding protein-C interaction in hypertrophic cardiomyopathy in a phosphorylation-dependent manner.

The Journal Of Biological Chemistry

Singh, Rohit R RR; McNamara, James W JW; Sadayappan, Sakthivel S

Publication Date: 2021-07

Variant appearance in text: MYH7: R663H

PubMed Link: 34051236

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Genetic Cardiomyopathies: The Lesson Learned from hiPSCs.

Journal Of Clinical Medicine

My, Ilaria I; Di Pasquale, Elisa E

Publication Date: 2021-03-09

Variant appearance in text: MYH7: R663H

PubMed Link: 33803477

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.

Journal Of The American Heart Association

Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Dellefave-Castillo, Lisa M LM; Wheeler, Matthew T MT; Pottinger, Tess D TD; Robinson, Avery C AC; Kearns, Samuel D SD; Gacita, Anthony M AM; Schoppen, Zachary J ZJ; Pan, Wenyu W; Kim, Gene G; Wilcox, Jane E JE; Anderson, Allen S AS; Ashley, Euan A EA; Day, Sharlene M SM; Cappola, Thomas T; Dorn, Gerald W GW; McNally, Elizabeth M EM

Publication Date: 2021-04-06

Variant appearance in text: MYH7: R663H

PubMed Link: 33764162

Variant Present in the following documents:

• JAH3-10-e019944-s001.pdf
• JAH3-10-e019944.pdf

View BVdb publication page

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Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: MYH7: 1988G>A; Arg663His

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Discordant clinical features of identical hypertrophic cardiomyopathy twins.

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

Repetti, Giuliana G GG; Kim, Yuri Y; Pereira, Alexandre C AC; Ingles, Jodie J; Russell, Mark W MW; Lakdawala, Neal K NK; Ho, Carolyn Y CY; Day, Sharlene S; Semsarian, Christopher C; McDonough, Barbara B; DePalma, Steven R SR; Quiat, Daniel D; Green, Eric M EM; Seidman, Christine E CE; Seidman, J G JG

Publication Date: 2021-03-09

Variant appearance in text: MYH7: 1988G>A; Arg663His

PubMed Link: 33658374

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variant Spectrum of Formin Homology 2 Domain-Containing 3 Gene in Chinese Patients With Hypertrophic Cardiomyopathy.

Journal Of The American Heart Association

Wu, Guixin G; Ruan, Jieyun J; Liu, Jie J; Zhang, Channa C; Kang, Lianming L; Wang, Jizheng J; Zou, Yubao Y; Song, Lei L

Publication Date: 2021-02

Variant appearance in text: MYH7: Arg663His

PubMed Link: 33586461

Variant Present in the following documents:

• Main text

View BVdb publication page

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To lie or not to lie: Super-relaxing with myosins.

Elife

Nag, Suman S; Trivedi, Darshan V DV

Publication Date: 2021-02-10

Variant appearance in text: MYH7: R663H

PubMed Link: 33565963

Variant Present in the following documents:

• Main text
• elife-63703.pdf

View BVdb publication page

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To lie or not to lie: Super-relaxing with myosins.

Elife

Nag, Suman S; Trivedi, Darshan V DV

Publication Date: 2021-02-10

Variant appearance in text: MYH7: R663H

PubMed Link: 33565963

Variant Present in the following documents:

• Main text
• elife-63703.pdf

View BVdb publication page

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Complexity in genetic cardiomyopathies and new approaches for mechanism-based precision medicine.

The Journal Of General Physiology

Greenberg, Michael J MJ; Tardiff, Jil C JC

Publication Date: 2021-03-01

Variant appearance in text: MYH7: R663H

PubMed Link: 33512404

Variant Present in the following documents:

• JGP_202012662.pdf

View BVdb publication page

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Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Nature Genetics

Tadros, Rafik R; Francis, Catherine C; Xu, Xiao X; Vermeer, Alexa M C AMC; Harper, Andrew R AR; Huurman, Roy R; Kelu Bisabu, Ken K; Walsh, Roddy R; Hoorntje, Edgar T ET; Te Rijdt, Wouter P WP; Buchan, Rachel J RJ; van Velzen, Hannah G HG; van Slegtenhorst, Marjon A MA; Vermeulen, Jentien M JM; Offerhaus, Joost Allard JA; Bai, Wenjia W; de Marvao, Antonio A; Lahrouchi, Najim N; Beekman, Leander L; Karper, Jacco C JC; Veldink, Jan H JH; Kayvanpour, Elham E; Pantazis, Antonis A; Baksi, A John AJ; Whiffin, Nicola N; Mazzarotto, Francesco F; Sloane, Geraldine G; Suzuki, Hideaki H; Schneider-Luftman, Deborah D; Elliott, Paul P; Richard, Pascale P; Ader, Flavie F; Villard, Eric E; Lichtner, Peter P; Meitinger, Thomas T; Tanck, Michael W T MWT; van Tintelen, J Peter JP; Thain, Andrew A; McCarty, David D; Hegele, Robert A RA; Roberts, Jason D JD; Amyot, Julie J; Dubé, Marie-Pierre MP; Cadrin-Tourigny, Julia J; Giraldeau, Geneviève G; L'Allier, Philippe L PL; Garceau, Patrick P; Tardif, Jean-Claude JC; Boekholdt, S Matthijs SM; Lumbers, R Thomas RT; Asselbergs, Folkert W FW; Barton, Paul J R PJR; Cook, Stuart A SA; Prasad, Sanjay K SK; O'Regan, Declan P DP; van der Velden, Jolanda J; Verweij, Karin J H KJH; Talajic, Mario M; Lettre, Guillaume G; Pinto, Yigal M YM; Meder, Benjamin B; Charron, Philippe P; de Boer, Rudolf A RA; Christiaans, Imke I; Michels, Michelle M; Wilde, Arthur A M AAM; Watkins, Hugh H; Matthews, Paul M PM; Ware, James S JS; Bezzina, Connie R CR

Publication Date: 2021-02

Variant appearance in text: MYH7: 1988G>A; R663H

PubMed Link: 33495596

Variant Present in the following documents:

• EMS114661-supplement-Supplementary_Tables.xlsx, sheet 3

View BVdb publication page

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Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.

Open Medicine (Warsaw, Poland)

Marey, Isabelle I; Fressart, Véronique V; Rambaud, Caroline C; Fornes, Paul P; Martin, Laurent L; Grotto, Sarah S; Alembik, Yves Y; Gorka, Hervé H; Millat, Gilles G; Gandjbakhch, Estelle E; Bordet, Céline C; de la Grandmaison, Geoffroy Lorin GL; Richard, Pascale P; Charron, Philippe P

Publication Date: 2020

Variant appearance in text: MYH7: Arg663His

PubMed Link: 33336002

Variant Present in the following documents:

• Main text
• med-2020-0150.pdf

View BVdb publication page

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Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

International Journal Of Molecular Sciences

Ovics, Paz P; Regev, Danielle D; Baskin, Polina P; Davidor, Mor M; Shemer, Yuval Y; Neeman, Shunit S; Ben-Haim, Yael Y; Binah, Ofer O

Publication Date: 2020-10-03

Variant appearance in text: MYH7: R663H

PubMed Link: 33023024

Variant Present in the following documents:

• Main text
• ijms-21-07320.pdf

View BVdb publication page

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Preventative therapeutic approaches for hypertrophic cardiomyopathy.

The Journal Of Physiology

Solomon, Tanya T; Filipovska, Aleksandra A; Hool, Livia L; Viola, Helena H

Publication Date: 2021-07

Variant appearance in text: MYH7: Arg663His

PubMed Link: 32822065

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.

Circulation. Genomic And Precision Medicine

Pua, Chee Jian CJ; Tham, Nevin N; Chin, Calvin W L CWL; Walsh, Roddy R; Khor, Chiea Chuen CC; Toepfer, Christopher N CN; Repetti, Giuliana G GG; Garfinkel, Amanda C AC; Ewoldt, Jourdan F JF; Cloonan, Paige P; Chen, Christopher S CS; Lim, Shi Qi SQ; Cai, Jiashen J; Loo, Li Yang LY; Kong, Siew Ching SC; Chiang, Charleston W K CWK; Whiffin, Nicola N; de Marvao, Antonio A; Lio, Pei Min PM; Hii, An An AA; Yang, Cheng Xi CX; Le, Thu Thao TT; Bylstra, Yasmin Y; Lim, Weng Khong WK; Teo, Jing Xian JX; Padilha, Kallyandra K; Silva, Gabriela V GV; Pan, Bangfen B; Govind, Risha R; Buchan, Rachel J RJ; Barton, Paul J R PJR; Tan, Patrick P; Foo, Roger R; Yip, James W L JWL; Wong, Raymond C C RCC; Chan, Wan Xian WX; Pereira, Alexandre C AC; Tang, Hak Chiaw HC; Jamuar, Saumya Shekhar SS; Ware, James S JS; Seidman, Jonathan G JG; Seidman, Christine E CE; Cook, Stuart A SA

Publication Date: 2020-10

Variant appearance in text: MYH7: 1988G>A; R663H

PubMed Link: 32815737

Variant Present in the following documents:

• hcg-13-424-s001.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: 1988G>A; Arg663His

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.

Journal Of Clinical Medicine

Kim, Hyung Yoon HY; Park, Jong Eun JE; Lee, Sang-Chol SC; Jeon, Eun-Seok ES; On, Young Keun YK; Kim, Sung Mok SM; Choe, Yeon Hyeon YH; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Kye Hun KH

Publication Date: 2020-06-01

Variant appearance in text: MYH7: 1988G>A; Arg663His

PubMed Link: 32492895

Variant Present in the following documents:

• Main text
• jcm-09-01671.pdf

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INDUCED PLURIPOTENT STEM CELLS FOR MODELLING ENERGETIC ALTERATIONS IN HYPERTROPHIC CARDIOMYOPATHY.

Conditioning Medicine

Ramachandra, Chrishan J A CJA; Mai Ja, K P Myu KPM; Lin, Ying-Hsi YH; Shim, Winston W; Boisvert, William A WA; Hausenloy, Derek J DJ

Publication Date: 2019

Variant appearance in text: MYH7: Arg663His

PubMed Link: 32457935

Variant Present in the following documents:

• Main text

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Human-induced pluripotent stem cells for modelling metabolic perturbations and impaired bioenergetics underlying cardiomyopathies.

Cardiovascular Research

Ramachandra, Chrishan J A CJA; Chua, Jasper J; Cong, Shuo S; Kp, Myu Mai Ja MMJ; Shim, Winston W; Wu, Joseph C JC; Hausenloy, Derek J DJ

Publication Date: 2021-02-22

Variant appearance in text: MYH7: R663H

PubMed Link: 32365198

Variant Present in the following documents:

• Main text

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The hypertrophic cardiomyopathy mutations R403Q and R663H increase the number of myosin heads available to interact with actin.

Science Advances

Sarkar, Saswata S SS; Trivedi, Darshan V DV; Morck, Makenna M MM; Adhikari, Arjun S AS; Pasha, Shaik N SN; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2020-04

Variant appearance in text: MYH7: R663H

PubMed Link: 32284968

Variant Present in the following documents:

• Main text
• aax0069.pdf

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Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

European Cardiology

Nakao, Shu S; Ihara, Dai D; Hasegawa, Koji K; Kawamura, Teruhisa T

Publication Date: 2020-02

Variant appearance in text: MYH7: R663H

PubMed Link: 32180835

Variant Present in the following documents:

• Main text

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The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

International Journal Of Molecular Sciences

Pourrier, Marc M; Fedida, David D

Publication Date: 2020-01-19

Variant appearance in text: MYH7: R663H

PubMed Link: 31963859

Variant Present in the following documents:

• Main text
• ijms-21-00657.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: 1988G>A; R663H

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: 1988G>A; Arg663His

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

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Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences

Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H

Publication Date: 2019-09-06

Variant appearance in text: MYH7: R663H

PubMed Link: 31489928

Variant Present in the following documents:

• Main text
• ijms-20-04381.pdf

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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: 1988G>A; R663H

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Modelling diastolic dysfunction in induced pluripotent stem cell-derived cardiomyocytes from hypertrophic cardiomyopathy patients.

European Heart Journal

Wu, Haodi H; Yang, Huaxiao H; Rhee, June-Wha JW; Zhang, Joe Z JZ; Lam, Chi Keung CK; Sallam, Karim K; Chang, Alex C Y ACY; Ma, Ning N; Lee, Jaecheol J; Zhang, Hao H; Blau, Helen M HM; Bers, Donald M DM; Wu, Joseph C JC

Publication Date: 2019-12-01

Variant appearance in text: MYH7: R663H

PubMed Link: 31219556

Variant Present in the following documents:

• Main text

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Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue.

Frontiers In Physiology

Kresin, Nico N; Stücker, Sabrina S; Krämer, Elisabeth E; Flenner, Frederik F; Mearini, Giulia G; Münch, Julia J; Patten, Monica M; Redwood, Charles C; Carrier, Lucie L; Friedrich, Felix W FW

Publication Date: 2019

Variant appearance in text: MYH7: 1988G>A; Arg663His

PubMed Link: 30984009

Variant Present in the following documents:

• Main text
• fphys-10-00239.pdf

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