Concepedia

Splicing Mutations

Splicing Mutations is a genetic alteration that disrupts the normal RNA splicing process by affecting splice sites or regulatory elements, thereby leading to aberrant mRNA isoforms and potentially nonfunctional or altered protein products.

1.4K

Publications

84K

Citations

9.7K

Authors

2.2K

Institutions

Publications per year

2017–2026

287

Parents

Publications

1.4K

Frequent pathway mutations of splicing machinery in myelodysplasia

Kenichi Yoshida, Masashi Sanada, Yuichi Shiraishi et al. · Nature · 2011 · 2.1K citations

, , +11

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

, , +17

The human splicing code reveals new insights into the genetic determinants of disease

Hui Xiong, Babak Alipanahi, Leo J. Lee et al. · Science · 2014 · 1.3K citations · Full text

, , +17

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Mark O’Driscoll, Víctor L. Ruiz‐Pérez, C. Geoffrey Woods et al. · Nature Genetics · 2003 · 778 citations · Full text

, , +16

A compensatory base change in U1 snRNA suppresses a 5′ splice site mutation

Yuan Zhuang, Alan M. Weiner · Cell · 1986 · 761 citations

, , +14

1–5 of 1.4K

Authors

9.7K

  1. PK
    Peter K. Rogan

    Western University, Canada

    14 publications · 724 citations

    13

    h-index

  2. LR
    Lourdes R. Desviat

    Universidad Autónoma de Madrid, Spain

    12 publications · 374 citations

    12

    h-index

  3. OA
    Omar Abdel‐Wahab

    Memorial Sloan Kettering Cancer Center, United States

    11 publications · 1.4K citations

    11

    h-index

  4. MP
    Mirko Pinotti

    University of Ferrara, Italy

    11 publications · 336 citations

    11

    h-index

  5. AR
    Adrian R. Krainer

    Cold Spring Harbor Laboratory, United States

    11 publications · 2.5K citations

    11

    h-index

1–5 of 9.7K

Institutions

2.2K

  1. Inserm

    Paris, France

    38 h-index

    392 publications

    30.2K citations

  2. Harvard University

    Cambridge, United States

    29 h-index

    161 publications

    20.2K citations

  3. Centre National de la Recherche Scientifique

    Paris, France

    27 h-index

    123 publications

    10.9K citations

  4. Johns Hopkins University

    Baltimore, United States

    24 h-index

    82 publications

    8.5K citations

  5. National Institutes of Health

    Bethesda, United States

    23 h-index

    88 publications

    4.9K citations

  6. Columbia University

    New York, United States

    22 h-index

    92 publications

    8.5K citations

  7. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    21 h-index

    61 publications

    3K citations

  8. Radboud University Nijmegen

    Nijmegen, The Netherlands

    20 h-index

    62 publications

    4.3K citations

1–8 of 2.2K

Venues

  1. Human Mutation

    116 publications · 5.8K citations

    45

    h-index

  2. Human Molecular Genetics

    54 publications · 3.4K citations

    33

    h-index

  3. Proceedings of the National Academy of Sciences

    PNAS · 35 publications · 4.1K citations

    31

    h-index

  4. Journal of Biological Chemistry

    JBC · 36 publications · 2.1K citations

    30

    h-index

  5. Molecular and Cellular Biology

    MCB · 45 publications · 2.3K citations

    29

    h-index

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