Concepedia

Carrier Testing

Carrier Testing is a genetic screening method used to identify individuals who carry one copy of a mutated gene associated with a recessive or X-linked cardiovascular disorder, thereby enabling risk assessment for passing the mutation to offspring.

221

Publications

12.7K

Citations

1.1K

Authors

417

Institutions

Publications per year

2017–2026

29

Parents

Publications

221

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Markus Feldkötter, Verena Schwarzer, Radu Wirth et al. · The American Journal of Human Genetics · 2002 · 1K citations · Full text

, , +8

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

Committee Opinion No. 691: Carrier Screening for Genetic Conditions

Obstetrics and Gynecology · 2017 · 408 citations

, , +17

Ethical Issues With Genetic Testing in Pediatrics

PEDIATRICS · 2001 · 366 citations

, , +17

1–5 of 221

Authors

1.1K

  1. LH
    Lidewij Henneman

    Amsterdam UMC Location Vrije Universiteit Amsterdam, Netherlands

    7 publications · 658 citations

    7

    h-index

  2. PB
    Pascal Borry

    KU Leuven, Belgium

    7 publications · 592 citations

    7

    h-index

  3. LP
    Leo P. ten Kate

    University of Groningen, Netherlands

    6 publications · 301 citations

    6

    h-index

  4. TW
    Thomas W. Prior

    The Ohio State University, United States

    5 publications · 104 citations

    5

    h-index

  5. MC
    Martina C. Cornel

    Amsterdam Public Health, Netherlands

    5 publications · 556 citations

    5

    h-index

1–5 of 1.1K

Institutions

417

  1. University of North Carolina at Chapel Hill

    Chapel Hill, United States

    9 h-index

    36 publications

    1.3K citations

  2. University of Rochester

    Rochester, United States

    6 h-index

    28 publications

    670 citations

  3. KU Leuven

    Leuven, Belgium

    6 h-index

    21 publications

    1.4K citations

  4. Murdoch Children's Research Institute

    Melbourne, Australia

    6 h-index

    38 publications

    3.4K citations

  5. Väestöliitto

    Helsinki, Finland

    6 h-index

    9 publications

    277 citations

  6. Johns Hopkins University

    Baltimore, United States

    6 h-index

    12 publications

    741 citations

  7. The University of Melbourne

    Melbourne, Australia

    6 h-index

    29 publications

    2.3K citations

  8. Victorian Clinical Genetics Services

    Flemington, Australia

    5 h-index

    30 publications

    2.8K citations

1–8 of 417

Venues

  1. American Journal of Medical Genetics

    19 publications · 844 citations

    16

    h-index

  2. Genetics in Medicine

    GIM · 16 publications · 1K citations

    15

    h-index

  3. PubMed

    Repository · 12 publications · 468 citations

    11

    h-index

  4. Clinical Genetics

    13 publications · 392 citations

    11

    h-index

  5. European Journal of Human Genetics

    EJHG · 10 publications · 1.3K citations

    10

    h-index

1–5