Publications:

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: M531R

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: MYH7: M531R

PubMed Link: 34819141

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2112.pdf

View BVdb publication page

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Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

Journal Of The American Heart Association

van Waning, Jaap I JI; Moesker, Joost J; Heijsman, Daphne D; Boersma, Eric E; Majoor-Krakauer, Danielle D

Publication Date: 2019-12-03

Variant appearance in text: MYH7: 1592T>G; Met531Arg

PubMed Link: 31771441

Variant Present in the following documents:

• JAH3-8-e012993.pdf
• JAH3-8-e012993-s001.pdf

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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: M531R

PubMed Link: 29525644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel myosin-based therapies for congenital cardiac and skeletal myopathies.

Journal Of Medical Genetics

Ochala, Julien J; Sun, Yin-Biao YB

Publication Date: 2016-10

Variant appearance in text: MYH7: M531R

PubMed Link: 27412953

Variant Present in the following documents:

• Main text
• jmedgenet-2016-103881.pdf

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The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Yang, Ren-Qiang RQ; Risgaard, Bjarke B; Køber, Lars L; Haunsø, Stig S; Tfelt-Hansen, Jacob J

Publication Date: 2016-03

Variant appearance in text: MYH7: M531R

PubMed Link: 27066506

Variant Present in the following documents:

• Main text
• MGG3-4-135.pdf
• MGG3-4-135-s001.xlsx, sheet 1

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Ensemble force changes that result from human cardiac myosin mutations and a small-molecule effector.

Cell Reports

Aksel, Tural T; Choe Yu, Elizabeth E; Sutton, Shirley S; Ruppel, Kathleen M KM; Spudich, James A JA

Publication Date: 2015-05-12

Variant appearance in text: MYH7: M531R

PubMed Link: 25937279

Variant Present in the following documents:

• NIHMS678675-supplement-5.pdf

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Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Protein & Cell

Gu, Ying Y; Liu, Guang-Hui GH; Plongthongkum, Nongluk N; Benner, Christopher C; Yi, Fei F; Qu, Jing J; Suzuki, Keiichiro K; Yang, Jiping J; Zhang, Weiqi W; Li, Mo M; Montserrat, Nuria N; Crespo, Isaac I; Del Sol, Antonio A; Esteban, Concepcion Rodriguez CR; Zhang, Kun K; Izpisua Belmonte, Juan Carlos JC

Publication Date: 2014-01

Variant appearance in text: MYH7: Met531Arg

PubMed Link: 24474197

Variant Present in the following documents:

• 13238_2013_16_MOESM9_ESM.pdf
• 13238_2013_Article_16.pdf
• 13238_2013_16_MOESM8_ESM.xlsx, sheet 2

View BVdb publication page

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