Concepedia

Homozygosity Mapping

Homozygosity Mapping is a genetic gene-mapping strategy that identifies regions of the genome where affected individuals share homozygous alleles identical by descent, thereby enabling the localization of recessive disease-causing variants in consanguineous families.

734

Publications

49.9K

Citations

6K

Authors

1.6K

Institutions

Publications per year

2017–2026

138

Parents

Publications

734

Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54

Nicolás de Roux, Emmanuelle Génin, Jean‐Claude Carel et al. · Proceedings of the National Academy of Sciences · 2003 · 2.4K citations · Full text

, , +17

Homozygosity Mapping: A Way to Map Human Recessive Traits with the DNA of Inbred Children

Eric S. Lander, David Botstein · Science · 1987 · 886 citations

, , +17

Genomic Patterns of Homozygosity in Worldwide Human Populations

Trevor J. Pemberton, Devin Absher, Marcus W. Feldman et al. · The American Journal of Human Genetics · 2012 · 667 citations · Full text

, , +14

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

Udo zur Stadt · Human Molecular Genetics · 2005 · 555 citations · Full text

, , +14

Extended tracts of homozygosity in outbred human populations

Jane Whitney Gibson, Newton E. Morton, Andrew Collins · Human Molecular Genetics · 2006 · 518 citations · Full text

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1–5 of 734

Authors

6K

  1. PN
    Peter Nürnberg

    University of Cologne, Germany

    24 publications · 2.1K citations

    20

    h-index

  2. GN
    Gudrun Nürnberg

    University of Cologne, Germany

    19 publications · 1.9K citations

    19

    h-index

  3. FP
    Frans P.M. Cremers

    Radboud University Nijmegen, Netherlands

    20 publications · 1.2K citations

    19

    h-index

  4. FH
    Friedhelm Hildebrandt

    Boston Children's Hospital, United States

    20 publications · 2.6K citations

    18

    h-index

  5. RW
    Rob W.J. Collin

    Radboud University Nijmegen, Netherlands

    18 publications · 1.1K citations

    17

    h-index

1–5 of 6K

Institutions

1.6K

  1. Inserm

    Paris, France

    39 h-index

    302 publications

    20.5K citations

  2. University College London

    London, United Kingdom

    35 h-index

    364 publications

    27.3K citations

  3. Howard Hughes Medical Institute

    Chevy Chase, United States

    33 h-index

    110 publications

    12.6K citations

  4. Radboud University Nijmegen

    Nijmegen, The Netherlands

    28 h-index

    209 publications

    12.8K citations

  5. Radboud University Medical Center

    Nijmegen, The Netherlands

    27 h-index

    184 publications

    10.6K citations

  6. Centre National de la Recherche Scientifique

    Paris, France

    25 h-index

    139 publications

    8.9K citations

  7. Hadassah Medical Center

    Jerusalem, Israel

    25 h-index

    144 publications

    10.2K citations

  8. University of Cologne

    Cologne, Germany

    24 h-index

    104 publications

    8K citations

1–8 of 1.6K

Venues

  1. Human Molecular Genetics

    52 publications · 5.4K citations

    41

    h-index

  2. The American Journal of Human Genetics

    AJHG · 44 publications · 5.3K citations

    40

    h-index

  3. Journal of Medical Genetics

    JMG · 44 publications · 2.9K citations

    32

    h-index

  4. PubMed

    Repository · 44 publications · 1.7K citations

    27

    h-index

  5. PLoS ONE

    31 publications · 1.5K citations

    23

    h-index

1–5