Concepedia

Structural Chromosome Variants

Structural Chromosome Variants is a cytogenetic phenomenon characterized by alterations in the architecture of chromosomes—such as deletions, duplications, inversions, or translocations—that deviate from the typical genomic configuration without necessarily causing phenotypic abnormalities.

354

Publications

27K

Citations

3K

Authors

958

Institutions

Publications per year

2017–2026

134

Parents

Publications

354

Accurate whole human genome sequencing using reversible terminator chemistry

David Bentley, Shankar Balasubramanian, Harold Swerdlow et al. · Nature · 2008 · 3.8K citations · Full text

, , +11

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

, , +14

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Louis M. Kunkel, Kirby D. Smith, Samuel H. Boyer et al. · Proceedings of the National Academy of Sciences · 1977 · 1.4K citations · Full text

, , +15

RaGOO: fast and accurate reference-guided scaffolding of draft genomes

Michael Alonge, Sebastian Soyk, Srividya Ramakrishnan et al. · Genome biology · 2019 · 764 citations · Full text

, , +17

The barley pan-genome reveals the hidden legacy of mutation breeding

Murukarthick Jayakodi, Sudharsan Padmarasu, Georg Haberer et al. · Nature · 2020 · 591 citations · Full text

, , +17

1–5 of 354

Authors

3K

  1. EE
    Evan E. Eichler

    University of Washington, United States

    6 publications · 510 citations

    6

    h-index

  2. FJ
    Fritz J. Sedlazeck

    Baylor College of Medicine, United States

    6 publications · 1.2K citations

    6

    h-index

  3. JO
    Jan O. Korbel

    European Molecular Biology Laboratory, Germany

    5 publications · 651 citations

    5

    h-index

  4. FM
    Francesco Maura

    University of Milan, Italy

    4 publications · 359 citations

    5

    h-index

  5. HL
    Heng Li

    Harvard University, United States

    4 publications · 4.1K citations

    4

    h-index

1–5 of 3K

Institutions

958

  1. Baylor College of Medicine

    Houston, United States

    12 h-index

    30 publications

    2.4K citations

  2. Centre National de la Recherche Scientifique

    Paris, France

    12 h-index

    58 publications

    7.3K citations

  3. Howard Hughes Medical Institute

    Chevy Chase, United States

    11 h-index

    25 publications

    4.2K citations

  4. University of Washington

    Seattle, United States

    11 h-index

    63 publications

    4.5K citations

  5. Harvard University

    Cambridge, United States

    10 h-index

    37 publications

    4.1K citations

  6. Stanford University

    Stanford, United States

    8 h-index

    53 publications

    3.6K citations

  7. Science for Life Laboratory

    Stockholm, Sweden

    8 h-index

    25 publications

    2K citations

  8. Cornell University

    Ithaca, United States

    8 h-index

    40 publications

    3.6K citations

1–8 of 958

Venues

  1. PubMed

    Repository · 20 publications · 1K citations

    16

    h-index

  2. Human Genetics

    17 publications · 586 citations

    14

    h-index

  3. Journal of Medical Genetics

    JMG · 16 publications · 396 citations

    14

    h-index

  4. Nature Communications

    12 publications · 1.1K citations

    12

    h-index

  5. bioRxiv (Cold Spring Harbor Laboratory)

    Repository · 12 publications · 263 citations

    12

    h-index

1–5