Concepedia

Autozygosity Mapping

Autozygosity Mapping is a genetic mapping method that identifies regions of the genome identical by descent in consanguineous pedigrees to pinpoint recessive disease-causing variants.

146

Publications

10.3K

Citations

1.3K

Authors

499

Institutions

Publications per year

2017–2026

37

Parents

Publications

146

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin et al. · Cell Reports · 2014 · 472 citations · Full text

, , +15

Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21

Jean Maurice Delabar, Didier Theophile, Zohra Rahmani et al. · European Journal of Human Genetics · 1993 · 445 citations

, , +17

Long Homozygous Chromosomal Segments in Reference Families from the Centre d'Étude du Polymorphisme Humain

Karl W. Broman, James L. Weber · The American Journal of Human Genetics · 1999 · 377 citations · Full text

, , +11

Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

Michael C. Kruer, Coro Paisán-Ruı́z, Nathalie Boddaert et al. · Annals of Neurology · 2010 · 233 citations

, , +17

TLE6 mutation causes the earliest known human embryonic lethality

Anas M. Alazami, Salma Awad, Serdar Coşkun et al. · Genome biology · 2015 · 226 citations · Full text

, , +17

1–5 of 146

Authors

1.3K

  1. FS
    Fowzan S. Alkuraya

    King Faisal Specialist Hospital & Research Centre, Saudi Arabia

    18 publications · 1.8K citations

    16

    h-index

  2. RS
    Ranad Shaheen

    King Faisal Specialist Hospital & Research Centre, Saudi Arabia

    6 publications · 807 citations

    6

    h-index

  3. MA
    Mohammed Al‐Owain

    King Faisal Specialist Hospital & Research Centre, Saudi Arabia

    6 publications · 664 citations

    6

    h-index

  4. IC
    Ian Carr

    University of Leeds, United Kingdom

    6 publications · 382 citations

    6

    h-index

  5. MS
    Markus Schuelke

    Charité - Universitätsmedizin Berlin, Germany

    6 publications · 282 citations

    6

    h-index

1–5 of 1.3K

Institutions

499

  1. King Faisal Specialist Hospital & Research Centre

    Riyadh, Saudi Arabia

    18 h-index

    155 publications

    23.3K citations

  2. Alfaisal University

    Riyadh, Saudi Arabia

    16 h-index

    26 publications

    3.7K citations

  3. King Saud University

    Riyadh, Saudi Arabia

    12 h-index

    30 publications

    6.8K citations

  4. University of Manchester

    Manchester, United Kingdom

    10 h-index

    33 publications

    947 citations

  5. University College London

    London, United Kingdom

    10 h-index

    49 publications

    3.4K citations

  6. St James's University Hospital

    Leeds, United Kingdom

    10 h-index

    36 publications

    2.8K citations

  7. University of Leeds

    Leeds, United Kingdom

    10 h-index

    57 publications

    4.3K citations

  8. King Khalid University Hospital

    Riyadh, Saudi Arabia

    9 h-index

    19 publications

    4.3K citations

1–8 of 499

Venues

  1. Journal of Medical Genetics

    JMG · 25 publications · 1.5K citations

    21

    h-index

  2. The American Journal of Human Genetics

    AJHG · 8 publications · 973 citations

    8

    h-index

  3. Human Molecular Genetics

    8 publications · 869 citations

    8

    h-index

  4. Human Mutation

    7 publications · 420 citations

    7

    h-index

  5. Scientific Reports

    6 publications · 162 citations

    6

    h-index

1–5