Concepedia

Frameshift Mutation Detection

Frameshift Mutation Detection is a mutagenicity assessment method that identifies insertions or deletions of nucleotides in DNA sequences leading to a disruption of the normal reading frame during translation, thereby distinguishing such mutations from other types of genetic alterations based on their frameshifting effect.

360

Publications

15.8K

Citations

2.5K

Authors

837

Institutions

Publications per year

2017–2026

50

Parents

Publications

360

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY

Ralf J. Jäger, Maria Anvret, Kerstin Hall et al. · Nature · 1990 · 412 citations

, , +11

CDKN2/p16 or RB alterations occur in the majority of glioblastomas and are inversely correlated.

Keisuke Ueki, Yasuhiro Ono, John W. Henson et al. · PubMed · 1996 · 408 citations

, , +17

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

Pauline A.M. Roest, Roland G. Roberts, Shigeto Sugino et al. · Human Molecular Genetics · 1993 · 300 citations

, , +13

Phase variation of gonococcal pili by frameshift mutation in pilC, a novel gene for pilus assembly.

Ann‐Beth Jonsson, G. Nyberg, Staffan Normark · The EMBO Journal · 1991 · 296 citations · Full text

, , +8

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

Pablo Lapunzina, Mona Aglan, Samia A. Temtamy et al. · The American Journal of Human Genetics · 2010 · 289 citations · Full text

, , +13

1–5 of 360

Authors

2.5K

  1. XE
    Xavier Estivill

    Centre for Genomic Regulation, Spain

    4 publications · 90 citations

    4

    h-index

  2. WI
    W.H. Irwin McLean

    University of Dundee, United Kingdom

    3 publications · 175 citations

    3

    h-index

  3. GF
    Goonnapa Fucharoen

    Khon Kaen University, Thailand

    3 publications · 68 citations

    3

    h-index

  4. YF
    Yasuyuki Fukumaki

    Kyushu University, Japan

    3 publications · 81 citations

    3

    h-index

  5. JH
    Jeffrey H Miller

    University of California, Los Angeles, United States

    3 publications · 396 citations

    3

    h-index

1–5 of 2.5K

Institutions

837

  1. Inserm

    Paris, France

    12 h-index

    45 publications

    1.4K citations

  2. Centre National de la Recherche Scientifique

    Paris, France

    8 h-index

    36 publications

    845 citations

  3. The University of Tokyo

    Tokyo, Japan

    7 h-index

    19 publications

    616 citations

  4. Chinese Academy of Medical Sciences & Peking Union Medical College

    Beijing, China

    6 h-index

    41 publications

    760 citations

  5. Kyushu University

    Fukuoka, Japan

    6 h-index

    18 publications

    399 citations

  6. University of Toronto

    Toronto, Canada

    6 h-index

    15 publications

    897 citations

  7. McGill University

    Montreal, Canada

    6 h-index

    14 publications

    532 citations

  8. University of Cologne

    Cologne, Germany

    5 h-index

    8 publications

    350 citations

1–8 of 837

Venues

  1. Human Mutation

    26 publications · 1K citations

    21

    h-index

  2. PubMed

    Repository · 19 publications · 982 citations

    15

    h-index

  3. American Journal of Medical Genetics Part A

    10 publications · 228 citations

    10

    h-index

  4. PLoS ONE

    8 publications · 190 citations

    8

    h-index

  5. Human Molecular Genetics

    7 publications · 503 citations

    7

    h-index

1–5