Concepedia

Deletions Classification

Deletions Classification is a variant classification framework that specifically categorizes genomic deletions based on their molecular consequences, population frequency, and functional impact to determine their pathogenicity within the context of genetic disease diagnosis.

46

Publications

3.7K

Citations

296

Authors

128

Institutions

Publications per year

2017–2026

5

Parents

Publications

46

The <i>DYT1</i> phenotype and guidelines for diagnostic testing

Susan Bressman, Chiara Sabatti, Deborah Raymond et al. · Neurology · 2000 · 361 citations

, , +15

Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome

Stuart K. Shapira, Christopher McCaskill, Hope Northrup et al. · The American Journal of Human Genetics · 1997 · 342 citations · Full text

, , +17

Genome Diversity of Epstein-Barr Virus from Multiple Tumor Types and Normal Infection

Anne Palser, Nicholas Grayson, Robert E. White et al. · Journal of Virology · 2015 · 271 citations · Full text

, , +17

Genomic Deletions Classify the Beijing/W Strains as a Distinct Genetic Lineage of <i>Mycobacterium tuberculosis</i>

Anthony G. Tsolaki, Sébastien Gagneux, Alexander S. Pym et al. · Journal of Clinical Microbiology · 2005 · 249 citations

, , +9

Genomic Deletions Suggest a Phylogeny for the<i>Mycobacterium tuberculosis</i>Complex

Serge Mostowy, Debby Cousins, Jacqui Brinkman et al. · The Journal of Infectious Diseases · 2002 · 240 citations · Full text

, , +12

1–5 of 46

Authors

296

  1. OS
    Oliver Smithies

    University of North Carolina at Chapel Hill, United States

    2 publications · 304 citations

    2

    h-index

  2. MM
    Masafumi Matsuo

    Kobe University, Japan

    2 publications · 62 citations

    2

    h-index

  3. HG
    Himabindu Gaddipati

    Children's Hospital of Philadelphia, United States

    1 publications · 28 citations

    1

    h-index

  4. VO
    Vikas Ostwal

    Tata Memorial Hospital, India

    1 publications · 16 citations

    1

    h-index

  5. KO
    Kazuhiro Ohtsu

    Iowa State University, United States

    1 publications · 16 citations

    1

    h-index

1–5 of 296

Institutions

128

  1. National Institutes of Health

    Bethesda, United States

    3 h-index

    9 publications

    765 citations

  2. University of Wisconsin–Madison

    Madison, United States

    2 h-index

    6 publications

    912 citations

  3. Augusta University

    Augusta, United States

    2 h-index

    2 publications

    97 citations

  4. Baylor College of Medicine

    Houston, United States

    2 h-index

    13 publications

    2.7K citations

  5. Wessex Regional Genetics Laboratory

    Salisbury, United Kingdom

    2 h-index

    4 publications

    388 citations

  6. Salisbury District Hospital

    Salisbury, United Kingdom

    2 h-index

    4 publications

    388 citations

  7. University College London

    London, United Kingdom

    1 h-index

    1 publications

    271 citations

  8. Newcastle University

    Newcastle upon Tyne, United Kingdom

    1 h-index

    12 publications

    792 citations

1–8 of 128

Venues

  1. Journal of Medical Genetics

    JMG · 5 publications · 374 citations

    5

    h-index

  2. PubMed

    Repository · 5 publications · 226 citations

    5

    h-index

  3. British Journal of Haematology

    BJH · 3 publications · 246 citations

    3

    h-index

  4. Journal of Clinical Microbiology

    JCM · 2 publications · 291 citations

    2

    h-index

  5. Journal of Human Genetics

    2 publications · 73 citations

    2

    h-index

1–5