Concepedia

Carrier Screening

Carrier Screening is a clinical genomics methodology that identifies asymptomatic individuals who harbor a single pathogenic variant in a gene associated with a recessive or X-linked disorder, thereby enabling assessment of reproductive risk for affected offspring.

677

Publications

32.9K

Citations

3.2K

Authors

990

Institutions

Publications per year

2017–2026

170

Parents

Publications

677

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Callum J. Bell, Darrell L. Dinwiddie, Neil Miller et al. · Science Translational Medicine · 2011 · 712 citations

, , +16

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

Elaine A. Sugarman, Narasimhan Nagan, Hui Zhu et al. · European Journal of Human Genetics · 2011 · 674 citations · Full text

, , +16

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia.

Dan Y. Wu, Luis Ugozzoli, B K Pal et al. · Proceedings of the National Academy of Sciences · 1989 · 626 citations · Full text

, , +17

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Michael S. Watson, Garry R. Cutting, Robert J. Desnick et al. · Genetics in Medicine · 2004 · 479 citations · Full text

, , +16

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

Wayne W. Grody, Garry R. Cutting, K. Klinger et al. · Genetics in Medicine · 2001 · 460 citations

, , +13

1–5 of 677

Authors

3.2K

  1. LH
    Lidewij Henneman

    Amsterdam UMC Location Vrije Universiteit Amsterdam, Netherlands

    23 publications · 1.1K citations

    19

    h-index

  2. AD
    Alison D. Archibald

    Victorian Clinical Genetics Services, Australia

    19 publications · 762 citations

    17

    h-index

  3. PL
    Phillis Lakeman

    University of Amsterdam, Netherlands

    15 publications · 808 citations

    14

    h-index

  4. MC
    Martina C. Cornel

    Amsterdam Public Health, Netherlands

    15 publications · 798 citations

    14

    h-index

  5. MB
    Martin B. Delatycki

    Murdoch Children's Research Institute, Australia

    16 publications · 672 citations

    14

    h-index

1–5 of 3.2K

Institutions

990

  1. Murdoch Children's Research Institute

    Melbourne, Australia

    23 h-index

    165 publications

    7.9K citations

  2. Victorian Clinical Genetics Services

    Flemington, Australia

    22 h-index

    79 publications

    4.7K citations

  3. The University of Melbourne

    Melbourne, Australia

    22 h-index

    113 publications

    5.5K citations

  4. Royal Children's Hospital

    Melbourne, Australia

    21 h-index

    46 publications

    1.7K citations

  5. Baylor College of Medicine

    Houston, United States

    14 h-index

    36 publications

    2.7K citations

  6. Icahn School of Medicine at Mount Sinai

    New York, United States

    14 h-index

    61 publications

    3.7K citations

  7. The University of Sydney

    Sydney, Australia

    13 h-index

    37 publications

    1.6K citations

  8. University of California, Los Angeles

    Los Angeles, United States

    13 h-index

    18 publications

    1.9K citations

1–8 of 990

Venues

  1. Genetics in Medicine

    GIM · 54 publications · 4.2K citations

    32

    h-index

  2. PubMed

    Repository · 44 publications · 1.5K citations

    23

    h-index

  3. European Journal of Human Genetics

    EJHG · 24 publications · 1.9K citations

    22

    h-index

  4. Prenatal Diagnosis

    29 publications · 1K citations

    19

    h-index

  5. Journal of Genetic Counseling

    24 publications · 826 citations

    18

    h-index

1–5