Concepedia

Splicing Defect Analysis

Splicing Defect Analysis is a computational and experimental methodology in rare disease genetics that identifies and characterizes aberrant RNA splicing events caused by genetic variants, distinguishing it from other molecular analyses by its focus on disrupted pre-mRNA processing as a pathogenic mechanism.

181

Publications

7.8K

Citations

1.3K

Authors

523

Institutions

Publications per year

2017–2026

46

Parents

Publications

181

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

Chantal Sellier, Frédérique Rau, Yilei Liu et al. · The EMBO Journal · 2010 · 365 citations

, , +15

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins et al. · The American Journal of Human Genetics · 2023 · 305 citations · Full text

, , +14

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

Kian‐Huat Lim, Luciana Ferraris, Madeleine E. Filloux et al. · Proceedings of the National Academy of Sciences · 2011 · 285 citations · Full text

, , +16

ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

DJ Picketts · Human Molecular Genetics · 1996 · 267 citations · Full text

, , +11

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 198 citations · Full text

, , +17

1–5 of 181

Authors

1.3K

  1. LR
    Lourdes R. Desviat

    Universidad Autónoma de Madrid, Spain

    5 publications · 108 citations

    5

    h-index

  2. FP
    Frans P.M. Cremers

    Radboud University Nijmegen, Netherlands

    5 publications · 530 citations

    5

    h-index

  3. CF
    Claude Férec

    Inserm, France

    5 publications · 111 citations

    5

    h-index

  4. RW
    Rob W.J. Collin

    Radboud University Nijmegen, Netherlands

    4 publications · 459 citations

    4

    h-index

  5. EA
    Eladio A. Velasco

    Instituto de Biomedicina y Genética Molecular de Valladolid, Spain

    4 publications · 223 citations

    4

    h-index

1–5 of 1.3K

Institutions

523

  1. Inserm

    Paris, France

    19 h-index

    91 publications

    5.8K citations

  2. Centre for Biomedical Network Research on Rare Diseases

    Madrid, Spain

    7 h-index

    26 publications

    602 citations

  3. University of Milan

    Milan, Italy

    7 h-index

    32 publications

    701 citations

  4. Radboud University Nijmegen

    Nijmegen, The Netherlands

    6 h-index

    45 publications

    5.3K citations

  5. Radboud University Medical Center

    Nijmegen, The Netherlands

    6 h-index

    45 publications

    5.3K citations

  6. Universidad Autónoma de Madrid

    Madrid, Spain

    5 h-index

    16 publications

    417 citations

  7. Centro de Biología Molecular Severo Ochoa

    Madrid, Spain

    5 h-index

    21 publications

    459 citations

  8. Centre National de la Recherche Scientifique

    Paris, France

    5 h-index

    16 publications

    2.3K citations

1–8 of 523

Venues

  1. Human Mutation

    16 publications · 771 citations

    14

    h-index

  2. PubMed

    Repository · 9 publications · 324 citations

    9

    h-index

  3. Clinical Genetics

    7 publications · 144 citations

    7

    h-index

  4. Journal of Medical Genetics

    JMG · 6 publications · 275 citations

    6

    h-index

  5. PLoS ONE

    5 publications · 106 citations

    5

    h-index

1–5