Concepedia

Sarcomeric Gene Variants

Sarcomeric Gene Variants is a genetic construct referring to pathogenic alterations in genes encoding components of the cardiac sarcomere, distinguished by their direct association with inherited cardiomyopathies, particularly dilated and hypertrophic forms, in both pediatric and adult populations.

263

Publications

19.3K

Citations

2.2K

Authors

690

Institutions

Publications per year

2017–2026

117

Parents

Publications

263

A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene.

M. Litt, J.A. Luty · PubMed · 1989 · 2K citations

, , +7

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

Carolyn Y. Ho, Sharlene M. Day, Euan A. Ashley et al. · Circulation · 2018 · 831 citations · Full text

, , +14

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

J. Travis Hinson, Anant Chopra, Navid A. Nafissi et al. · Science · 2015 · 649 citations

, , +13

Mutations in Cypher/ZASPin patients with dilated cardiomyopathy and left ventricular non-compaction

Matteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez et al. · Journal of the American College of Cardiology · 2003 · 515 citations

, , +12

Titin-truncating variants affect heart function in disease cohorts and the general population

Sebastian Schäfer, Antonio de Marvao, Eleonora Adami et al. · Nature Genetics · 2016 · 367 citations · Full text

, , +14

1–5 of 263

Authors

2.2K

  1. CY
    Carolyn Y. Ho

    Brigham and Women's Hospital, United States

    17 publications · 2.2K citations

    18

    h-index

  2. CE
    Christine E. Seidman

    Harvard University, United States

    14 publications · 3K citations

    14

    h-index

  3. SM
    Sharlene M. Day

    University of Michigan, United States

    10 publications · 1.5K citations

    11

    h-index

  4. AC
    Alexandre C. Pereira

    Universidade de São Paulo, Brazil

    9 publications · 1.3K citations

    9

    h-index

  5. EA
    Euan A. Ashley

    Stanford University, United States

    8 publications · 1.4K citations

    9

    h-index

1–5 of 2.2K

Institutions

690

  1. Brigham and Women's Hospital

    Boston, United States

    22 h-index

    84 publications

    11.6K citations

  2. Howard Hughes Medical Institute

    Chevy Chase, United States

    15 h-index

    50 publications

    9.2K citations

  3. University College London

    London, United Kingdom

    14 h-index

    91 publications

    9.8K citations

  4. Boston Children's Hospital

    Boston, United States

    13 h-index

    15 publications

    1.9K citations

  5. Harvard University

    Cambridge, United States

    13 h-index

    66 publications

    12.1K citations

  6. Inserm

    Paris, France

    11 h-index

    46 publications

    5.9K citations

  7. Erasmus MC

    Rotterdam, The Netherlands

    11 h-index

    55 publications

    9.2K citations

  8. Cincinnati Children's Hospital Medical Center

    Cincinnati, United States

    11 h-index

    20 publications

    845 citations

1–8 of 690

Venues

  1. Circulation

    15 publications · 2.8K citations

    15

    h-index

  2. Circulation Cardiovascular Genetics

    14 publications · 1.3K citations

    14

    h-index

  3. European Heart Journal

    11 publications · 1.2K citations

    12

    h-index

  4. PLoS ONE

    9 publications · 298 citations

    9

    h-index

  5. PubMed

    Repository · 8 publications · 2.2K citations

    8

    h-index

1–5