Concepedia

Down Syndrome

Down Syndrome is a genetic disorder characterized by the presence of a full or partial extra copy of chromosome 21, resulting in distinctive cognitive and physical developmental traits.

6.3K

Publications

341.1K

Citations

20.8K

Authors

4.1K

Institutions

Publications per year

2017–2026

861

Variants

Trisomy 21

Parents

Children

Publications

6.3K

Alzheimer's disease and Down's syndrome: Sharing of a unique cerebrovascular amyloid fibril protein

George G. Glenner, Caine W. Wong · Biochemical and Biophysical Research Communications · 1984 · 1.7K citations

, , +12

Amyloid β Protein Gene: cDNA, mRNA Distribution, and Genetic Linkage Near the Alzheimer Locus

Rudolph E. Tanzi, James F. Gusella, Paul C. Watkins et al. · Science · 1987 · 1.6K citations

, , +17

The DNA sequence of human chromosome 21

Masahira Hattori, Asao Fujiyama, Todd D. Taylor et al. · Nature · 2000 · 1.5K citations · Full text

, , +12

Health Supervision for Children With Down Syndrome

Marilyn J. Bull · PEDIATRICS · 2011 · 1.2K citations

, , +12

The Genetic Defect Causing Familial Alzheimer's Disease Maps on Chromosome 21

Peter St George‐Hyslop, Rudolph E. Tanzi, Ronald J. Polinsky et al. · Science · 1987 · 1.2K citations

, , +16

1–5 of 6.3K

Authors

20.8K

  1. WS
    Wayne Silverman

    New York State Office for People With Developmental Disabilities, United States

    63 publications · 3.7K citations

    36

    h-index

  2. RH
    Roger H. Reeves

    Johns Hopkins University, United States

    49 publications · 4.7K citations

    35

    h-index

  3. NS
    Nicole Schupf

    Columbia University, United States

    58 publications · 3.3K citations

    35

    h-index

  4. GL
    Gert Lübec

    University of Vienna, Austria

    75 publications · 3.1K citations

    34

    h-index

  5. MD
    Mara Dierssen

    Centre for Genomic Regulation, Spain

    55 publications · 3.9K citations

    33

    h-index

1–5 of 20.8K

Institutions

4.1K

  1. Johns Hopkins University

    Baltimore, United States

    65 h-index

    512 publications

    47K citations

  2. University College London

    London, United Kingdom

    57 h-index

    449 publications

    38K citations

  3. Johns Hopkins Medicine

    Baltimore, United States

    53 h-index

    300 publications

    33.3K citations

  4. New York State Office for People With Developmental Disabilities

    Albany, United States

    53 h-index

    458 publications

    30K citations

  5. Harvard University

    Cambridge, United States

    50 h-index

    336 publications

    21.9K citations

  6. Inserm

    Paris, France

    48 h-index

    408 publications

    28.6K citations

  7. University of Wisconsin–Madison

    Madison, United States

    48 h-index

    306 publications

    19.4K citations

  8. University of Colorado Denver

    Denver, United States

    45 h-index

    199 publications

    16.8K citations

1–8 of 4.1K

Venues

  1. PubMed

    Repository · 510 publications · 21K citations

    71

    h-index

  2. Journal of Intellectual Disability Research

    JIDR · 241 publications · 12.9K citations

    68

    h-index

  3. Prenatal Diagnosis

    155 publications · 7.2K citations

    47

    h-index

  4. Research in Developmental Disabilities

    140 publications · 5.6K citations

    45

    h-index

  5. Blood

    68 publications · 6.6K citations

    45

    h-index

1–5