Concepedia

Charge Syndrome

CHARGE Syndrome is a genetic disorder characterized by a specific pattern of congenital anomalies that serves as a clinical diagnostic construct defined by the presence of major features including coloboma, heart defects, atresia choanae, retardation of growth or development, genital hypoplasia, and ear abnormalities.

305

Publications

17.2K

Citations

1.7K

Authors

631

Institutions

Publications per year

2017–2026

63

Parents

Publications

305

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Lisenka E.L.M. Vissers, Conny M.A. van Ravenswaaij, R.J.C. Admiraal et al. · Nature Genetics · 2004 · 1.3K citations

, , +4

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Roberta A Pagon, John M. Graham, Jonathan Zonana et al. · The Journal of Pediatrics · 1981 · 838 citations

, , +15

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 461 citations · Full text

, , +16

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

Seema R. Lalani, Arsalan M. Safiullah, Susan Fernbach et al. · The American Journal of Human Genetics · 2006 · 393 citations · Full text

, , +12

Updated diagnostic criteria for CHARGE syndrome: A proposal

Alain Verloès · American Journal of Medical Genetics Part A · 2005 · 377 citations · Full text

, , +15

1–5 of 305

Authors

1.7K

  1. DM
    Donna M. Martin

    University of Michigan, United States

    21 publications · 1.2K citations

    18

    h-index

  2. KB
    Kim Blake

    Dalhousie University, Canada

    18 publications · 897 citations

    16

    h-index

  3. LH
    Lies H. Hoefsloot

    Radboud University Nijmegen, Netherlands

    16 publications · 1.1K citations

    14

    h-index

  4. CM
    Conny M.A. van Ravenswaaij‐Arts

    University Medical Center Groningen, Netherlands

    17 publications · 608 citations

    13

    h-index

  5. SL
    Stanislas Lyonnet

    Inserm, France

    13 publications · 1.1K citations

    13

    h-index

1–5 of 1.7K

Institutions

631

  1. University of Michigan

    Ann Arbor, United States

    21 h-index

    81 publications

    4.7K citations

  2. Dalhousie University

    Halifax, Canada

    18 h-index

    55 publications

    3K citations

  3. Radboud University Nijmegen

    Nijmegen, The Netherlands

    18 h-index

    77 publications

    24K citations

  4. University Medical Center Groningen

    Groningen, The Netherlands

    17 h-index

    50 publications

    2.2K citations

  5. University of Groningen

    Groningen, The Netherlands

    17 h-index

    47 publications

    1.8K citations

  6. Hôpital Necker-Enfants Malades

    Paris, France

    16 h-index

    115 publications

    10.2K citations

  7. Izaak Walton Killam Health Centre

    Halifax, Canada

    14 h-index

    19 publications

    857 citations

  8. Radboud University Medical Center

    Nijmegen, The Netherlands

    14 h-index

    63 publications

    22.6K citations

1–8 of 631

Venues

  1. American Journal of Medical Genetics Part A

    48 publications · 2.5K citations

    28

    h-index

  2. Clinical Genetics

    12 publications · 828 citations

    12

    h-index

  3. 11

    h-index

  4. American Journal of Medical Genetics

    11 publications · 546 citations

    11

    h-index

  5. PubMed

    Repository · 10 publications · 593 citations

    10

    h-index

1–5