Concepedia

Mendelian Disorders

Mendelian Disorders is a category of genetic disorders characterized by the inheritance of mutations in a single gene following patterns described by Mendel’s laws of inheritance.

9.5K

Publications

590K

Citations

45.3K

Authors

6K

Institutions

Publications per year

2017–2026

1K

Variants

Mendelian DiseasesMonogenic DiseasesMonogenic Disorders

Parents

Children

Publications

9.5K

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Bat-Sheva Kerem, Johanna M. Rommens, Janet A. Buchanan et al. · Science · 1989 · 4.1K citations

, , +10

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

Ada Hamosh · Nucleic Acids Research · 2004 · 3.5K citations · Full text

, , +8

Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping

Johanna M. Rommens, Michael C. Iannuzzi, Bat-Sheva Kerem et al. · Science · 1989 · 3.2K citations

, , +11

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Joanna Amberger, Carol Bocchini, François Schiettecatte et al. · Nucleic Acids Research · 2014 · 2.7K citations · Full text

, , +11

Rate of de novo mutations and the importance of father’s age to disease risk

Augustine Kong, Michael L. Frigge, Gísli Másson et al. · Nature · 2012 · 2.3K citations

, , +12

1–5 of 9.5K

Authors

45.3K

  1. AM
    Arnold Münnich

    Inserm, France

    50 publications · 5.6K citations

    37

    h-index

  2. JR
    James R. Lupski

    Baylor College of Medicine, United States

    49 publications · 6.7K citations

    35

    h-index

  3. VC
    Valérie Cormier‐Daire

    Hôpital Necker-Enfants Malades, France

    41 publications · 4.8K citations

    34

    h-index

  4. BD
    Bruno Dallapiccola

    Bambino Gesù Children's Hospital, Italy

    54 publications · 6.3K citations

    33

    h-index

  5. JM
    John M. Opitz

    University of Wisconsin–Madison, United States

    67 publications · 2.9K citations

    33

    h-index

1–5 of 45.3K

Institutions

6K

  1. Inserm

    Paris, France

    105 h-index

    2.1K publications

    212.3K citations

  2. Johns Hopkins University

    Baltimore, United States

    89 h-index

    578 publications

    115.2K citations

  3. University College London

    London, United Kingdom

    78 h-index

    787 publications

    109.3K citations

  4. Howard Hughes Medical Institute

    Chevy Chase, United States

    77 h-index

    418 publications

    99.7K citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    73 h-index

    777 publications

    78.8K citations

  6. National Institutes of Health

    Bethesda, United States

    72 h-index

    628 publications

    68K citations

  7. Johns Hopkins Medicine

    Baltimore, United States

    70 h-index

    348 publications

    85.9K citations

  8. Hôpital Necker-Enfants Malades

    Paris, France

    70 h-index

    538 publications

    67.9K citations

1–8 of 6K

Venues

  1. Nature Genetics

    164 publications · 64.3K citations

    143

    h-index

  2. The American Journal of Human Genetics

    AJHG · 305 publications · 48K citations

    135

    h-index

  3. Journal of Medical Genetics

    JMG · 416 publications · 28.6K citations

    90

    h-index

  4. PubMed

    Repository · 635 publications · 30.5K citations

    89

    h-index

  5. Human Molecular Genetics

    186 publications · 16.9K citations

    79

    h-index

1–5