Concepedia

Sequencing-based Screening

Sequencing-Based Screening is a mutation detection methodology that identifies genetic variants by determining the precise nucleotide sequence of DNA regions of interest, thereby enabling the systematic evaluation of genetic alterations at single-base resolution.

197

Publications

9.5K

Citations

1.5K

Authors

566

Institutions

Publications per year

2017–2026

42

Parents

Publications

197

Genetic Testing in the Long QT Syndrome

Carlo Napolitano, Silvia G. Priori, Peter J. Schwartz et al. · JAMA · 2005 · 467 citations

, , +17

Large Genomic Rearrangements in the Hepatocyte Nuclear Factor-1β (<i>TCF2</i>) Gene Are the Most Frequent Cause of Maturity-Onset Diabetes of the Young Type 5

Christine Bellanné‐Chantelot, Séverine Clauin, Dominique Chauveau et al. · Diabetes · 2005 · 273 citations · Full text

, , +17

Poly peak parser: Method and software for identification of unknown indels using sanger sequencing of polymerase chain reaction products

Jonathon T. Hill, Bradley L. Demarest, Brent W. Bisgrove et al. · Developmental Dynamics · 2014 · 262 citations · Full text

, , +17

Functional interrogation of DNA damage response variants with base editing screens

Raquel Cuella-Martin, Samuel B. Hayward, Xiao Fan et al. · Cell · 2021 · 259 citations · Full text

, , +15

TALEN-based Gene Correction for Epidermolysis Bullosa

Mark J. Osborn, Colby G. Starker, Amber McElroy et al. · Molecular Therapy · 2013 · 257 citations · Full text

, , +15

1–5 of 197

Authors

1.5K

  1. MH
    Madhuri Hegde

    Emory University, United States

    3 publications · 74 citations

    3

    h-index

  2. BR
    Babi Ramesh Reddy Nallamilli

    Emory University, United States

    3 publications · 74 citations

    3

    h-index

  3. YL
    Yumei Li

    Baylor College of Medicine, United States

    3 publications · 165 citations

    3

    h-index

  4. RC
    Rui Chen

    Baylor College of Medicine, United States

    3 publications · 165 citations

    3

    h-index

  5. RA
    Ruth A. Heim

    University of North Carolina at Chapel Hill, United States

    2 publications · 138 citations

    2

    h-index

1–5 of 1.5K

Institutions

566

  1. Inserm

    Paris, France

    11 h-index

    35 publications

    2.2K citations

  2. Centre National de la Recherche Scientifique

    Paris, France

    8 h-index

    24 publications

    686 citations

  3. Centre for Biomedical Network Research on Rare Diseases

    Madrid, Spain

    5 h-index

    18 publications

    363 citations

  4. KU Leuven

    Leuven, Belgium

    5 h-index

    15 publications

    492 citations

  5. University of Utah

    Salt Lake City, United States

    4 h-index

    22 publications

    3.2K citations

  6. Assistance Publique – Hôpitaux de Paris

    Paris, France

    4 h-index

    25 publications

    3.8K citations

  7. Emory University

    Atlanta, United States

    4 h-index

    18 publications

    502 citations

  8. Harvard University

    Cambridge, United States

    4 h-index

    10 publications

    848 citations

1–8 of 566

Venues

  1. Human Mutation

    17 publications · 826 citations

    16

    h-index

  2. PubMed

    Repository · 15 publications · 591 citations

    11

    h-index

  3. European Journal of Human Genetics

    EJHG · 7 publications · 555 citations

    7

    h-index

  4. PLoS ONE

    7 publications · 334 citations

    7

    h-index

  5. Journal of Molecular Diagnostics

    JMD · 6 publications · 180 citations

    6

    h-index

1–5