Concepedia

Biochemical Genetics

Biochemical genetics is a branch of genetics that investigates how genetic information regulates the synthesis and function of enzymes in metabolic pathways.

12.4K

Publications

660.1K

Citations

47.7K

Authors

6.1K

Institutions

Publications per year

2017–2026

963

Parents

Children

Publications

12.4K

An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels.

Brigitte Rigat, C. Hübert, F Alhenc‐Gelas et al. · Journal of Clinical Investigation · 1990 · 3.8K citations · Full text

, , +13

Identification of Ubiquitin Ligases Required for Skeletal Muscle Atrophy

Sue C. Bodine, Esther Latres, Susanne Baumhueter et al. · Science · 2001 · 3.5K citations · Full text

, , +13

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

Peter C. Bull, Gordon R. Thomas, Johanna M. Rommens et al. · Nature Genetics · 1993 · 2K citations

, , +7

8-Hydroxyguanine, an abundant form of oxidative DNA damage, causes G-T and A-C substitutions.

Keith C. Cheng, D S Cahill, Hiroshi Kasai et al. · Journal of Biological Chemistry · 1992 · 1.8K citations · Full text

, , +17

X chromosome-linked muscular dystrophy (mdx) in the mouse.

G. Bulfield, W. G. Siller, P.A.L. Wight et al. · Proceedings of the National Academy of Sciences · 1984 · 1.8K citations · Full text

, , +16

1–5 of 12.4K

Authors

47.7K

  1. EB
    Ernest Beutler

    City Of Hope National Medical Center, United States

    41 publications · 3.7K citations

    30

    h-index

  2. RJ
    Ronald J. A. Wanders

    University of Amsterdam, Netherlands

    36 publications · 2.6K citations

    28

    h-index

  3. RJ
    Robert J. Desnick

    Icahn School of Medicine at Mount Sinai, United States

    40 publications · 2.4K citations

    26

    h-index

  4. DA
    D. A. HOPKINSON

    University College London, United Kingdom

    35 publications · 2.7K citations

    25

    h-index

  5. HL
    H. Lehmann

    Addenbrooke's Hospital, United Kingdom

    26 publications · 1.7K citations

    24

    h-index

1–5 of 47.7K

Institutions

6.1K

  1. National Institutes of Health

    Bethesda, United States

    73 h-index

    801 publications

    65K citations

  2. Inserm

    Paris, France

    72 h-index

    1.3K publications

    101.8K citations

  3. Howard Hughes Medical Institute

    Chevy Chase, United States

    64 h-index

    384 publications

    52.7K citations

  4. University College London

    London, United Kingdom

    60 h-index

    597 publications

    50.7K citations

  5. Harvard University

    Cambridge, United States

    60 h-index

    421 publications

    37K citations

  6. Johns Hopkins University

    Baltimore, United States

    59 h-index

    370 publications

    39.1K citations

  7. Centre National de la Recherche Scientifique

    Paris, France

    55 h-index

    607 publications

    32.2K citations

  8. University of Pennsylvania

    Philadelphia, United States

    51 h-index

    359 publications

    31.5K citations

1–8 of 6.1K

Venues

  1. Journal of Biological Chemistry

    JBC · 522 publications · 45.8K citations

    113

    h-index

  2. Proceedings of the National Academy of Sciences

    PNAS · 339 publications · 41.5K citations

    113

    h-index

  3. Journal of Bacteriology

    JB · 469 publications · 30.5K citations

    91

    h-index

  4. Journal of Clinical Investigation

    JCI · 242 publications · 28.3K citations

    89

    h-index

  5. PubMed

    Repository · 631 publications · 23.9K citations

    71

    h-index

1–5

See also

Biochemical Genetics

Metabolic Pathways

Enzyme Defects

Inherited Disorders

Gene Regulation

Diagnostic Methods