Concepedia

Compound Heterozygosity Analysis

Compound Heterozygosity Analysis is a genetic diagnostic method used in prenatal diagnosis of hemoglobinopathies that identifies the presence of two different pathogenic variants in trans configuration within a single gene, thereby distinguishing compound heterozygous states from homozygous or wild-type genotypes.

641

Publications

25.1K

Citations

4.6K

Authors

1.4K

Institutions

Publications per year

2017–2026

81

Parents

Publications

641

A Revised Classification of von Willebrand Disease

J. Evan Sadler · Thrombosis and Haemostasis · 1994 · 591 citations

, , +17

WhatsHap: fast and accurate read-based phasing

Marcel Martin, Murray Patterson, Shilpa Garg et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2016 · 510 citations · Full text

, , +17

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

Sara L. Van Driest, Vlad C. Vasile, Steve R. Ommen et al. · Journal of the American College of Cardiology · 2004 · 427 citations

, , +14

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

Gerasimos P. Sykiotis, Lacey Plummer, Virginia Hughes et al. · Proceedings of the National Academy of Sciences · 2010 · 358 citations · Full text

, , +17

Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy

Ilaria Rigato, Barbara Bauce, Alessandra Rampazzo et al. · Circulation Cardiovascular Genetics · 2013 · 251 citations · Full text

, , +15

1–5 of 641

Authors

4.6K

  1. SF
    Supan Fucharoen

    Khon Kaen University, Thailand

    9 publications · 165 citations

    9

    h-index

  2. GF
    Goonnapa Fucharoen

    Khon Kaen University, Thailand

    9 publications · 165 citations

    9

    h-index

  3. JA
    John A. McGrath

    St Thomas' Hospital, United Kingdom

    9 publications · 457 citations

    9

    h-index

  4. KS
    Kanokwan Sanchaisuriya

    Khon Kaen University, Thailand

    7 publications · 144 citations

    7

    h-index

  5. DH
    David H.K. Chui

    Boston University, United States

    6 publications · 96 citations

    6

    h-index

1–5 of 4.6K

Institutions

1.4K

  1. Inserm

    Paris, France

    20 h-index

    139 publications

    6.6K citations

  2. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    15 h-index

    47 publications

    1.5K citations

  3. Harvard University

    Cambridge, United States

    13 h-index

    45 publications

    3.1K citations

  4. Augusta University

    Augusta, United States

    13 h-index

    50 publications

    1.3K citations

  5. University College London

    London, United Kingdom

    11 h-index

    46 publications

    2.5K citations

  6. Radboud University Nijmegen

    Nijmegen, The Netherlands

    11 h-index

    40 publications

    1.2K citations

  7. Assistance Publique – Hôpitaux de Paris

    Paris, France

    11 h-index

    58 publications

    2.5K citations

  8. Université Paris Cité

    Paris, France

    11 h-index

    61 publications

    2.3K citations

1–8 of 1.4K

Venues

  1. PubMed

    Repository · 40 publications · 1.4K citations

    23

    h-index

  2. Human Mutation

    28 publications · 1.2K citations

    22

    h-index

  3. American Journal of Medical Genetics Part A

    19 publications · 540 citations

    16

    h-index

  4. British Journal of Haematology

    BJH · 22 publications · 763 citations

    16

    h-index

  5. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 16 publications · 892 citations

    15

    h-index

1–5