Concepedia

Syndrome Subtyping

Syndrome Subtyping is a classification framework within the field of medical genetics that distinguishes phenotypically or genetically distinct subgroups within a broader syndrome category to enhance diagnostic precision and understanding of variable expressivity.

107

Publications

7K

Citations

927

Authors

466

Institutions

Publications per year

2017–2026

21

Parents

Publications

107

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

An update on clinically applicable diagnostic criteria in Rett syndrome

Bengt Hagberg, F. Hanefeld, Alan K. Percy et al. · European Journal of Paediatric Neurology · 2002 · 394 citations

, , +6

Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence

Bengt Hagberg, Ingegerd Witt‐Engerström, John M. Opitz et al. · American Journal of Medical Genetics · 1986 · 390 citations

, , +16

Clinical and genetic aspects of Angelman syndrome

Genetics in Medicine · 2010 · 315 citations · Full text

, , +13

Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome

Heidi A. Heilstedt, Blake C. Ballif, L A Howard et al. · The American Journal of Human Genetics · 2003 · 296 citations · Full text

, , +12

1–5 of 107

Authors

927

  1. MP
    M. Preus

    Montreal Children's Hospital, Canada

    6 publications · 345 citations

    6

    h-index

  2. AK
    Alan K. Percy

    University of Alabama at Birmingham, United States

    5 publications · 629 citations

    5

    h-index

  3. DW
    Dagmar Wieczorek

    Essen University Hospital, Germany

    3 publications · 339 citations

    3

    h-index

  4. BH
    Bengt Hagberg

    University of Gothenburg, Sweden

    3 publications · 837 citations

    3

    h-index

  5. LF
    Laurence Faivre

    Inserm, France

    3 publications · 79 citations

    3

    h-index

1–5 of 927

Institutions

466

  1. Inserm

    Paris, France

    11 h-index

    36 publications

    2.4K citations

  2. University College London

    London, United Kingdom

    6 h-index

    24 publications

    1.1K citations

  3. Baylor College of Medicine

    Houston, United States

    6 h-index

    18 publications

    2.3K citations

  4. Sorbonne Université

    Paris, France

    6 h-index

    14 publications

    1.6K citations

  5. Assistance Publique – Hôpitaux de Paris

    Paris, France

    6 h-index

    42 publications

    3.9K citations

  6. Leiden University Medical Center

    Leiden, The Netherlands

    5 h-index

    23 publications

    2.7K citations

  7. University of Alabama at Birmingham

    Birmingham, United States

    5 h-index

    6 publications

    775 citations

  8. Rigshospitalet

    Copenhagen, Denmark

    5 h-index

    9 publications

    517 citations

1–8 of 466

Venues

  1. PubMed

    Repository · 13 publications · 917 citations

    11

    h-index

  2. American Journal of Medical Genetics

    8 publications · 611 citations

    8

    h-index

  3. Clinical Genetics

    7 publications · 339 citations

    7

    h-index

  4. American Journal of Medical Genetics Part A

    7 publications · 357 citations

    7

    h-index

  5. European Journal of Human Genetics

    EJHG · 6 publications · 980 citations

    6

    h-index

1–5