Concepedia

Multiplex Mutation Screening

Multiplex Mutation Screening is a genomic analysis method that enables the simultaneous detection and characterization of multiple targeted mutations within a single experimental assay, distinguishing it from conventional single-locus screening approaches by its capacity for high-throughput, parallel assessment of engineered or naturally occurring genetic variants.

280

Publications

15K

Citations

2K

Authors

635

Institutions

Publications per year

2017–2026

28

Parents

Publications

280

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

Brian J. O’Roak, Laura Vives, Wenqing Fu et al. · Science · 2012 · 1.3K citations · Full text

, , +14

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

Jeffrey S. Chamberlain, Richard A. Gibbs, Joel E. Rainer et al. · Nucleic Acids Research · 1988 · 1.3K citations · Full text

, , +10

Direct Identification of Hundreds of Expression-Modulating Variants using a Multiplexed Reporter Assay

Ryan Tewhey, Dylan Kotliar, Daniel Park et al. · Cell · 2016 · 556 citations · Full text

, , +15

Minisequencing: A Specific Tool for DNA Analysis and Diagnostics on Oligonucleotide Arrays

Tomi Pastinen, Ants Kurg, Andres Metspalu et al. · Genome Research · 1997 · 347 citations · Full text

, , +17

Mode of action and application of Scorpion primers to mutation detection

Nicola Thelwell · Nucleic Acids Research · 2000 · 335 citations · Full text

, , +14

1–5 of 280

Authors

2K

  1. ML
    Marc Ladanyi

    Memorial Sloan Kettering Cancer Center, United States

    3 publications · 76 citations

    3

    h-index

  2. JV
    Jan Vijg

    Albert Einstein College of Medicine, United States

    3 publications · 82 citations

    3

    h-index

  3. WG
    Wei‐Bang Guo

    Guangdong Academy of Medical Sciences, China

    4 publications · 49 citations

    3

    h-index

  4. EE
    Eva Esteban‐Cardeñosa

    Instituto de Biomedicina y Genética Molecular de Valladolid, Spain

    3 publications · 103 citations

    3

    h-index

  5. MD
    M. Durán

    Wilhelmina Children's Hospital, Netherlands

    3 publications · 103 citations

    3

    h-index

1–5 of 2K

Institutions

635

  1. Inserm

    Paris, France

    11 h-index

    41 publications

    3.6K citations

  2. University of Toronto

    Toronto, Canada

    8 h-index

    37 publications

    1.3K citations

  3. Harvard University

    Cambridge, United States

    8 h-index

    30 publications

    4K citations

  4. University College London

    London, United Kingdom

    6 h-index

    15 publications

    548 citations

  5. Guy's Hospital

    London, United Kingdom

    5 h-index

    12 publications

    801 citations

  6. National Taiwan University

    Taipei, Taiwan

    5 h-index

    12 publications

    475 citations

  7. National Taiwan University Hospital

    Taipei, Taiwan

    5 h-index

    29 publications

    1.2K citations

  8. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    5 h-index

    21 publications

    998 citations

1–8 of 635

Venues

  1. Human Mutation

    25 publications · 1.2K citations

    20

    h-index

  2. Journal of Molecular Diagnostics

    JMD · 17 publications · 823 citations

    16

    h-index

  3. PubMed

    Repository · 13 publications · 547 citations

    11

    h-index

  4. Clinical Chemistry

    13 publications · 477 citations

    11

    h-index

  5. PLoS ONE

    9 publications · 521 citations

    9

    h-index

1–5