Concepedia

Genetic Mutation Detection

Genetic Mutation Detection is a methodological framework within nucleic acid biosensing that enables the identification and characterization of deviations from the canonical DNA sequence through sequence-specific hybridization or enzymatic recognition mechanisms.

2.2K

Publications

125.1K

Citations

12.6K

Authors

2.8K

Institutions

Publications per year

2017–2026

422

Parents

Publications

2.2K

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

, , +16

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

Charles R. Newton, Alexander Graham, Lesley Heptinstall et al. · Nucleic Acids Research · 1989 · 2.5K citations · Full text

, , +17

Digital PCR

Bert Vogelstein, Kenneth W. Kinzler · Proceedings of the National Academy of Sciences · 1999 · 1.7K citations

, , +17

Mutation detection and single-molecule counting using isothermal rolling-circle amplification

Paul M. Lizardi, Xiaohua Huang, Zhengrong Zhu et al. · Nature Genetics · 1998 · 1.4K citations

, , +14

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes.

Val C. Sheffield, David R. Cox, Leonard S. Lerman et al. · Proceedings of the National Academy of Sciences · 1989 · 1.3K citations · Full text

, , +14

1–5 of 2.2K

Authors

12.6K

  1. GM
    G. Mike Makrigiorgos

    Harvard University, United States

    18 publications · 628 citations

    15

    h-index

  2. CT
    Carl T. Wittwer

    University of Utah, United States

    14 publications · 3.2K citations

    13

    h-index

  3. WG
    William G. Thilly

    Massachusetts Institute of Technology, United States

    13 publications · 961 citations

    13

    h-index

  4. RG
    Richard G.H. Cotton

    Royal Children's Hospital, Australia

    13 publications · 426 citations

    12

    h-index

  5. PO
    Per Olaf Ekstrøm

    Norwegian Cancer Society, Norway

    12 publications · 296 citations

    12

    h-index

1–5 of 12.6K

Institutions

2.8K

  1. Inserm

    Paris, France

    33 h-index

    236 publications

    22.8K citations

  2. Harvard University

    Cambridge, United States

    28 h-index

    162 publications

    9.9K citations

  3. Johns Hopkins University

    Baltimore, United States

    23 h-index

    110 publications

    6.3K citations

  4. University of Utah

    Salt Lake City, United States

    23 h-index

    85 publications

    13K citations

  5. Brigham and Women's Hospital

    Boston, United States

    23 h-index

    122 publications

    8.7K citations

  6. Dana-Farber Cancer Institute

    Boston, United States

    22 h-index

    132 publications

    9.4K citations

  7. Centre National de la Recherche Scientifique

    Paris, France

    22 h-index

    115 publications

    10.8K citations

  8. Baylor College of Medicine

    Houston, United States

    21 h-index

    71 publications

    7.6K citations

1–8 of 2.8K

Venues

  1. Nucleic Acids Research

    98 publications · 10.2K citations

    49

    h-index

  2. Human Mutation

    118 publications · 6.1K citations

    45

    h-index

  3. Clinical Chemistry

    83 publications · 6.7K citations

    41

    h-index

  4. PubMed

    Repository · 105 publications · 4.1K citations

    37

    h-index

  5. PLoS ONE

    55 publications · 3K citations

    31

    h-index

1–5