Associated Papers
LAMP2 variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.
Lu J et al.
Cardiology in the Young, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy.
Su W et al.
Frontiers in Cardiovascular Medicine, 2025
Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.
Miura A et al.
International Heart Journal, 2024
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.
Jeong JH et al.
Korean Circulation Journal, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Dilated cardiomyopathy: a new insight into the rare but common cause of heart failure.
Giri P et al.
Heart Failure Reviews, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Case Report: Novel LIM domain-binding protein 3 (LDB3) mutations associated with hypertrophic cardiomyopathy family.
Zheng J et al.
Frontiers in Pediatrics, 2022
Evaluation of FGFR targeting in breast cancer through interrogation of patient-derived models.
Chew NJ et al.
Breast Cancer Research : Bcr, 2021
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.
Juang JJ et al.
Journal of Advanced Research, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
Case Report: Identification of Mutations in LAMP2 in Two Chinese Infants With Danon Disease.
Zhang L et al.
Frontiers in Genetics, 2020
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province].
Pang MJ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2018
Telomere shortening is a hallmark of genetic cardiomyopathies.
Chang ACY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China.
Zhang L et al.
Mayo Clinic Proceedings, 2016
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
Zhao Y et al.
International Journal of Molecular Medicine, 2016
Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.
Zhao Y et al.
International Journal of Molecular Medicine, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.
Liu W et al.
The American Journal of Cardiology, 2013
Population-based variation in cardiomyopathy genes.
Golbus JR et al.
Circulation. Cardiovascular Genetics, 2012
[Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy].
Yang J et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2011
Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.
Funada A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2010
A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Wang J et al.
Clinical Cardiology, 2009
[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese].
Wang H et al.
Zhonghua Yi Xue Za Zhi, 2008
Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.
Wang S et al.
Clinical Cardiology, 2008
Differences in the diagnostic value of various criteria of negative T waves for hypertrophic cardiomyopathy based on a molecular genetic diagnosis.
Konno T et al.
Clinical Science (london, England : 1979), 2007
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.
Matsushita Y et al.
Journal of Human Genetics, 2007
Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.
Yang JH et al.
Chinese Medical Journal, 2006
Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.
Konno T et al.
Journal of Internal Medicine, 2005
Characteristics of the beta myosin heavy chain gene Ala26Val mutation in a Chinese family with hypertrophic cardiomyopathy.
Liu SX et al.
European Journal of Internal Medicine, 2005
Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
Song L et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest SL et al.
Journal of the American College of Cardiology, 2004