Concepedia

Heterozygote Phenotype

Heterozygote Phenotype is a genetic expression pattern characterized by the observable traits resulting from the interaction between two different alleles at a heterozygous locus, where the phenotypic outcome deviates from simple dominance by exhibiting intermediate, codominant, or overdominant effects.

712

Publications

35K

Citations

3.5K

Authors

1.1K

Institutions

Publications per year

2017–2026

35

Parents

Publications

712

Isolation of Chinese hamster cell mutants deficient in dihydrofolate reductase activity.

G Urlaub, Lawrence A. Chasin · Proceedings of the National Academy of Sciences · 1980 · 910 citations

, , +9

Genotyping Steroid 21-Hydroxylase Deficiency: Hormonal Reference Data*

Maria I. New, F Lorenzen, Alan J. Lerner et al. · The Journal of Clinical Endocrinology & Metabolism · 1983 · 642 citations

, , +16

Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote

Zhenze Zhao, Yetsa Tuakli-Wosornu, Thomas A. Lagace et al. · The American Journal of Human Genetics · 2006 · 633 citations · Full text

, , +13

Mistyping ACE heterozygotes.

Vedapuri Shanmugam, K W Sell, B K Saha · Genome Research · 1993 · 513 citations · Full text

, , +14

Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis

Hiroyuki Morimura, Gerald A. Fishman, Sandeep Grover et al. · Proceedings of the National Academy of Sciences · 1998 · 489 citations

, , +15

1–5 of 712

Authors

3.5K

  1. LJ
    Louis J. Elsas

    Emory University, United States

    5 publications · 170 citations

    5

    h-index

  2. JM
    John M. Opitz

    University of Wisconsin–Madison, United States

    5 publications · 230 citations

    5

    h-index

  3. TF
    Toshiyuki Fukao

    Gifu University, Japan

    5 publications · 139 citations

    5

    h-index

  4. EB
    Ernest Beutler

    City Of Hope National Medical Center, United States

    4 publications · 169 citations

    4

    h-index

  5. SY
    Seiji Yamaguchi

    Shimane University, Japan

    3 publications · 103 citations

    3

    h-index

1–5 of 3.5K

Institutions

1.1K

  1. University College London

    London, United Kingdom

    13 h-index

    49 publications

    4.4K citations

  2. University of Washington

    Seattle, United States

    13 h-index

    44 publications

    5K citations

  3. Inserm

    Paris, France

    11 h-index

    44 publications

    1.6K citations

  4. Johns Hopkins University

    Baltimore, United States

    10 h-index

    44 publications

    3K citations

  5. Centre National de la Recherche Scientifique

    Paris, France

    10 h-index

    34 publications

    3.3K citations

  6. Harvard University

    Cambridge, United States

    8 h-index

    32 publications

    6.4K citations

  7. Howard Hughes Medical Institute

    Chevy Chase, United States

    7 h-index

    20 publications

    3.2K citations

  8. Washington University in St. Louis

    St Louis, United States

    7 h-index

    24 publications

    1.1K citations

1–8 of 1.1K

Venues

  1. PubMed

    Repository · 54 publications · 2K citations

    24

    h-index

  2. Journal of Clinical Investigation

    JCI · 18 publications · 1.7K citations

    18

    h-index

  3. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 20 publications · 2.1K citations

    17

    h-index

  4. Clinical Genetics

    21 publications · 667 citations

    17

    h-index

  5. Proceedings of the National Academy of Sciences

    PNAS · 16 publications · 3.2K citations

    16

    h-index

1–5