Concepedia

Myh7 Mutations

MYH7 Mutations is a genetic alteration in the MYH7 gene, which encodes the β-myosin heavy chain protein, distinguished by its causal association with hypertrophic cardiomyopathy through impaired sarcomere function.

270

Publications

15.3K

Citations

2.4K

Authors

768

Institutions

Publications per year

2017–2026

95

Parents

Publications

270

Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction

Sabine Klaassen, Susanne Probst, Erwin Oechslin et al. · Circulation · 2008 · 451 citations · Full text

, , +16

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

Hiroyuki Morita, Heidi L. Rehm, Andres Menesses et al. · New England Journal of Medicine · 2008 · 410 citations · Full text

, , +16

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

Melissa Kelly, Colleen Caleshu, Ana Morales et al. · Genetics in Medicine · 2018 · 371 citations · Full text

, , +16

CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy

Diogo Mosqueira, Ingra Mannhardt, Jamie R. Bhagwan et al. · European Heart Journal · 2018 · 249 citations · Full text

, , +16

Molecular Genetic Basis of Hypertrophic Cardiomyopathy

Circulation Research · 2021 · 230 citations · Full text

, , +13

1–5 of 270

Authors

2.4K

  1. IO
    Iacopo Olivotto

    Azienda Ospedaliero-Universitaria Careggi, Italy

    8 publications · 502 citations

    8

    h-index

  2. NG
    Nigel G. Laing

    The University of Western Australia, Australia

    8 publications · 602 citations

    8

    h-index

  3. JV
    Jolanda van der Velden

    Amsterdam UMC Location Vrije Universiteit Amsterdam, Netherlands

    8 publications · 658 citations

    8

    h-index

  4. CG
    Cristobal G. dos Remedios

    The University of Sydney, Australia

    8 publications · 740 citations

    8

    h-index

  5. TK
    Theresia Kraft

    Medizinische Hochschule Hannover, Germany

    7 publications · 337 citations

    7

    h-index

1–5 of 2.4K

Institutions

768

  1. University College London

    London, United Kingdom

    13 h-index

    39 publications

    4.4K citations

  2. The University of Sydney

    Sydney, Australia

    13 h-index

    31 publications

    2K citations

  3. Amsterdam UMC Location University of Amsterdam

    Amsterdam, The Netherlands

    12 h-index

    56 publications

    6K citations

  4. Brigham and Women's Hospital

    Boston, United States

    11 h-index

    36 publications

    2.8K citations

  5. Harvard University

    Cambridge, United States

    11 h-index

    44 publications

    4.6K citations

  6. Inserm

    Paris, France

    10 h-index

    34 publications

    2.1K citations

  7. Mayo Clinic

    Rochester, United States

    10 h-index

    56 publications

    3.3K citations

  8. Erasmus University Rotterdam

    Rotterdam, The Netherlands

    10 h-index

    21 publications

    1.5K citations

1–8 of 768

Venues

  1. Neuromuscular Disorders

    21 publications · 761 citations

    17

    h-index

  2. PLoS ONE

    9 publications · 522 citations

    9

    h-index

  3. Circulation Cardiovascular Genetics

    9 publications · 1.1K citations

    9

    h-index

  4. Scientific Reports

    7 publications · 410 citations

    7

    h-index

  5. Clinical Genetics

    6 publications · 410 citations

    6

    h-index

1–5