Concepedia

Protein-truncating Variants

Protein-Truncating Variants is a type of genetic variant that introduces a premature stop codon, leading to the production of a shortened, typically nonfunctional protein, thereby disrupting normal gene function in the context of inherited cardiac diseases such as dilated cardiomyopathy.

436

Publications

39.5K

Citations

6.4K

Authors

1.6K

Institutions

Publications per year

2017–2026

196

Variants

Ptvs

Parents

Publications

436

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie, David S. DeLuca, Ayellet V. Segrè et al. · Science · 2015 · 5.7K citations · Full text

, , +17

Truncations of Titin Causing Dilated Cardiomyopathy

Daniel S. Herman, Lien Lam, Matthew R.G. Taylor et al. · New England Journal of Medicine · 2012 · 1.5K citations

, , +11

The human transcriptome across tissues and individuals

Marta Melé, Pedro G. Ferreira, Ferrán Reverter et al. · Science · 2015 · 1.4K citations · Full text

, , +16

Exomic Sequencing Identifies <i>PALB2</i> as a Pancreatic Cancer Susceptibility Gene

Siân Jones, Ralph H. Hruban, Mihoko Kamiyama et al. · Science · 2009 · 814 citations · Full text

, , +17

Cerebral Cavernous Malformations

Daniele Rigamonti, Mark N. Hadley, Burton P. Drayer et al. · New England Journal of Medicine · 1988 · 672 citations

, , +17

1–5 of 436

Authors

6.4K

  1. MJ
    Mark J. Daly

    Broad Institute, United States

    14 publications · 1.8K citations

    13

    h-index

  2. MC
    Melissa C. Southey

    The University of Melbourne, Australia

    9 publications · 668 citations

    9

    h-index

  3. CE
    Christine E. Seidman

    Harvard University, United States

    8 publications · 3.1K citations

    8

    h-index

  4. SA
    Stuart A. Cook

    Imperial College London, United Kingdom

    8 publications · 3.6K citations

    8

    h-index

  5. DF
    Douglas F. Easton

    University of Cambridge, United Kingdom

    8 publications · 1.4K citations

    8

    h-index

1–5 of 6.4K

Institutions

1.6K

  1. Harvard University

    Cambridge, United States

    33 h-index

    208 publications

    47.3K citations

  2. Inserm

    Paris, France

    27 h-index

    203 publications

    20.1K citations

  3. Massachusetts General Hospital

    Boston, United States

    27 h-index

    177 publications

    23.1K citations

  4. Broad Institute

    Cambridge, United States

    25 h-index

    293 publications

    45.4K citations

  5. Stanford University

    Stanford, United States

    23 h-index

    82 publications

    12.2K citations

  6. University of Helsinki

    Helsinki, Finland

    20 h-index

    84 publications

    8.2K citations

  7. University of Oxford

    Oxford, United Kingdom

    19 h-index

    103 publications

    16.8K citations

  8. Brigham and Women's Hospital

    Boston, United States

    18 h-index

    54 publications

    20.5K citations

1–8 of 1.6K

Venues

  1. Human Molecular Genetics

    17 publications · 2K citations

    16

    h-index

  2. The American Journal of Human Genetics

    AJHG · 15 publications · 1.3K citations

    15

    h-index

  3. Human Mutation

    16 publications · 854 citations

    15

    h-index

  4. Journal of Biological Chemistry

    JBC · 11 publications · 678 citations

    11

    h-index

  5. Journal of Medical Genetics

    JMG · 11 publications · 748 citations

    11

    h-index

1–5