Associated Papers
Functional interrogation of contextually correct MYH7 variants using CRaTER-flox gene editing and contractility profiling.
Loiben AM et al.
The Journal of Clinical Investigation, 2026
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.
Kim OH et al.
Bmc Medical Genomics, 2024
MYH7 in cardiomyopathy and skeletal muscle myopathy.
Gao Y et al.
Molecular and Cellular Biochemistry, 2024
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
Generation of iPSC line from MYH7 R403L mutation carrier with severe hypertrophic cardiomyopathy and isogenic CRISPR/Cas9 corrected control.
Fontaine V et al.
Stem Cell Research, 2021
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Tadros R et al.
Nature Genetics, 2021
mTOR pathway in human cardiac hypertrophy caused by LEOPARD syndrome: a different role compared with animal models?
Cui H et al.
Orphanet Journal of Rare Diseases, 2019
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives.
Norrish G et al.
Circulation, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
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
Beta-myosin heavy-chain mutations R403QLW, V606M, K615N and R663H in patients with hypertrophic cardiomyopathy.
Atay S et al.
Anadolu Kardiyoloji Dergisi : Akd = the Anatolian Journal of Cardiology, 2014
Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.
Gandjbakhch E et al.
European Heart Journal, 2010
Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression.
Keren A et al.
Nature Clinical Practice. Cardiovascular Medicine, 2008
Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease.
Charron P et al.
Expert Review of Molecular Diagnostics, 2006
Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case.
Charron P et al.
Prenatal Diagnosis, 2004
Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population.
Charron P et al.
International Journal of Cardiology, 2003
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P et al.
Circulation, 2003
Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations: prediction of clinical status--is molecular genetics a new tool for the management of hypertrophic cardiomyopathy in clinical practice?
Hengstenberg C et al.
Cardiovascular Research, 2003
A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.
Havndrup O et al.
Scandinavian Cardiovascular Journal : Scj, 2000
DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.
Smart RV et al.
Clinical Genetics, 1996
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
Rayment I et al.
Proceedings of the National Academy of Sciences of the United States of America, 1995