Concepedia

Missense Variant Interpretation

Missense Variant Interpretation is a variant interpretation methodology that specifically classifies single nucleotide substitutions resulting in amino acid changes according to their potential functional and clinical impact on the encoded protein.

294

Publications

14.5K

Citations

3K

Authors

1.1K

Institutions

Publications per year

2017–2026

177

Parents

Publications

294

A common missense variant in NUDT15 confers susceptibility to thiopurine-induced leukopenia

Suk‐Kyun Yang, Myunghee Hong, Jiwon Baek et al. · Nature Genetics · 2014 · 547 citations · Full text

, , +7

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng et al. · The American Journal of Human Genetics · 2022 · 528 citations · Full text

, , +14

Variant Interpretation: Functional Assays to the Rescue

Lea M. Starita, Nadav Ahituv, Maitreya J. Dunham et al. · The American Journal of Human Genetics · 2017 · 427 citations · Full text

, , +14

Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

Sarah E. Flanagan, Ann‐Marie Patch, Sian Ellard · Genetic Testing and Molecular Biomarkers · 2010 · 424 citations

, , +17

Regional missense constraint improves variant deleteriousness prediction

Kaitlin E. Samocha, Jack A. Kosmicki, Konrad J. Karczewski et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2017 · 393 citations · Full text

, , +17

1–5 of 294

Authors

3K

  1. FP
    Frederick P. Roth

    Harvard University, United States

    7 publications · 567 citations

    7

    h-index

  2. JS
    James S. Ware

    Imperial College London, United Kingdom

    6 publications · 220 citations

    6

    h-index

  3. PM
    Patrick May

    University of Luxembourg, Luxembourg

    6 publications · 454 citations

    6

    h-index

  4. SV
    Sean V. Tavtigian

    University of Utah, United States

    7 publications · 1.3K citations

    6

    h-index

  5. MJ
    Mark J. Daly

    Broad Institute, United States

    6 publications · 715 citations

    6

    h-index

1–5 of 3K

Institutions

1.1K

  1. Inserm

    Paris, France

    15 h-index

    102 publications

    4.6K citations

  2. Massachusetts General Hospital

    Boston, United States

    12 h-index

    60 publications

    6.7K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    11 h-index

    56 publications

    2.8K citations

  4. Harvard University

    Cambridge, United States

    11 h-index

    38 publications

    2.2K citations

  5. Broad Institute

    Cambridge, United States

    11 h-index

    57 publications

    7.6K citations

  6. Boston Children's Hospital

    Boston, United States

    11 h-index

    19 publications

    1.7K citations

  7. Imperial College London

    London, United Kingdom

    11 h-index

    25 publications

    853 citations

  8. University of Toronto

    Toronto, Canada

    11 h-index

    47 publications

    1.8K citations

1–8 of 1.1K

Venues

  1. Human Mutation

    28 publications · 1.4K citations

    23

    h-index

  2. The American Journal of Human Genetics

    AJHG · 14 publications · 2K citations

    14

    h-index

  3. PubMed

    Repository · 9 publications · 616 citations

    9

    h-index

  4. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 9 publications · 560 citations

    9

    h-index

  5. European Journal of Human Genetics

    EJHG · 8 publications · 384 citations

    8

    h-index

1–5