Concepedia

Duplication Syndromes

Duplication Syndrome is a chromosomal disorder characterized by the presence of additional copies of a segment of DNA within a chromosome, leading to abnormal gene dosage and associated phenotypic abnormalities.

813

Publications

37K

Citations

4.9K

Authors

1.5K

Institutions

Publications per year

2017–2026

67

Variants

Chromosomal Duplication SyndromesDuplication Disorders

Parents

Publications

813

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J. Sharp, S.K. Hansen, Rebecca R. Selzer et al. · Nature Genetics · 2006 · 664 citations

, , +16

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

Edwin H. Cook, V Lindgren, Bennett Leventhal et al. · PubMed · 1997 · 650 citations

, , +14

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

, , +14

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

Peter Raeymaekers, Vincent Timmerman, Eva Nelis et al. · Neuromuscular Disorders · 1991 · 599 citations

, , +12

Internal tandem duplication of the FLT3 gene is preferentially seen in acute myeloid leukemia and myelodysplastic syndrome among various hematological malignancies. A study on a large series of patients and cell lines

S Yokota, Hitoshi Kiyoi, Makoto Nakao et al. · Leukemia · 1997 · 458 citations

, , +17

1–5 of 813

Authors

4.9K

  1. JM
    John M. Opitz

    University of Wisconsin–Madison, United States

    30 publications · 1.1K citations

    22

    h-index

  2. JR
    James R. Lupski

    Baylor College of Medicine, United States

    18 publications · 2K citations

    16

    h-index

  3. OZ
    Orsetta Zuffardi

    University of Pavia, Italy

    15 publications · 861 citations

    15

    h-index

  4. JF
    James F. Reynolds

    Duke University, United States

    13 publications · 478 citations

    12

    h-index

  5. BD
    Bruno Dallapiccola

    Bambino Gesù Children's Hospital, Italy

    11 publications · 414 citations

    11

    h-index

1–5 of 4.9K

Institutions

1.5K

  1. Baylor College of Medicine

    Houston, United States

    34 h-index

    201 publications

    21.7K citations

  2. Inserm

    Paris, France

    24 h-index

    104 publications

    6K citations

  3. KU Leuven

    Leuven, Belgium

    19 h-index

    65 publications

    4.4K citations

  4. Wessex Regional Genetics Laboratory

    Salisbury, United Kingdom

    17 h-index

    53 publications

    4.4K citations

  5. Radboud University Nijmegen

    Nijmegen, The Netherlands

    16 h-index

    105 publications

    12.5K citations

  6. University of Pavia

    Pavia, Italy

    15 h-index

    48 publications

    2.3K citations

  7. Istituti di Ricovero e Cura a Carattere Scientifico

    Rome, Italy

    15 h-index

    45 publications

    1.8K citations

  8. Texas Children's Hospital

    Houston, United States

    15 h-index

    51 publications

    5.9K citations

1–8 of 1.5K

Venues

  1. American Journal of Medical Genetics Part A

    118 publications · 4.4K citations

    43

    h-index

  2. American Journal of Medical Genetics

    118 publications · 4.2K citations

    35

    h-index

  3. Clinical Genetics

    47 publications · 1.6K citations

    23

    h-index

  4. PubMed

    Repository · 57 publications · 2.2K citations

    23

    h-index

  5. European Journal of Human Genetics

    EJHG · 28 publications · 1.6K citations

    22

    h-index

1–5