Concepedia

Germline Mutations

Germline Mutation is a type of genomic variation that occurs in the reproductive cells and can be passed on to offspring, thereby affecting the genetic makeup of subsequent generations.

4.4K

Publications

363.1K

Citations

31.2K

Authors

4.8K

Institutions

Publications per year

2017–2026

1.3K

Variants

Germline Variants

Parents

Publications

4.4K

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

Fredrick S. Leach, Nicholas C. Nicolaides, Nickolas Papadopoulos et al. · Cell · 1993 · 2.3K citations

, , +17

Talazoparib in Patients with Advanced Breast Cancer and a Germline <i>BRCA</i> Mutation

Jennifer K. Litton, Hope S. Rugo, Johannes Ettl et al. · New England Journal of Medicine · 2018 · 2.2K citations · Full text

, , +14

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

Danny Liaw, Jing Li, Patricia L. M. Dahia et al. · Nature Genetics · 1997 · 2.1K citations

, , +16

Glioma Groups Based on 1p/19q,<i>IDH</i>, and<i>TERT</i>Promoter Mutations in Tumors

Jeanette E. Eckel‐Passow, Daniel H. Lachance, Annette M Molinaro et al. · New England Journal of Medicine · 2015 · 2K citations · Full text

, , +17

E-cadherin germline mutations in familial gastric cancer

Parry Guilford, Justin Hopkins, James Harraway et al. · Nature · 1998 · 1.7K citations

, , +14

1–5 of 4.4K

Authors

31.2K

  1. CE
    Charis Eng

    Cleveland Clinic, United States

    96 publications · 10.6K citations

    54

    h-index

  2. ME
    Mark E. Robson

    Memorial Sloan Kettering Cancer Center, United States

    46 publications · 7.5K citations

    36

    h-index

  3. WD
    William D. Foulkes

    McGill University, Canada

    42 publications · 4.8K citations

    31

    h-index

  4. KO
    Kenneth Offit

    Memorial Sloan Kettering Cancer Center, United States

    39 publications · 6.8K citations

    30

    h-index

  5. ER
    Eamonn R. Maher

    University of Birmingham, United Kingdom

    32 publications · 4.8K citations

    29

    h-index

1–5 of 31.2K

Institutions

4.8K

  1. Inserm

    Paris, France

    87 h-index

    1.2K publications

    166K citations

  2. Memorial Sloan Kettering Cancer Center

    New York, United States

    71 h-index

    1.3K publications

    176.6K citations

  3. Harvard University

    Cambridge, United States

    70 h-index

    504 publications

    82.7K citations

  4. Cancer Genetics (United States)

    Rutherford, United States

    69 h-index

    478 publications

    64.1K citations

  5. National Institutes of Health

    Bethesda, United States

    68 h-index

    783 publications

    117.7K citations

  6. Université Paris Cité

    Paris, France

    67 h-index

    665 publications

    114.3K citations

  7. University of Cambridge

    Cambridge, United Kingdom

    62 h-index

    452 publications

    45.9K citations

  8. Dana-Farber Cancer Institute

    Boston, United States

    62 h-index

    458 publications

    95.2K citations

1–8 of 4.8K

Venues

  1. Journal of Clinical Oncology

    113 publications · 21.2K citations

    71

    h-index

  2. Human Molecular Genetics

    128 publications · 17K citations

    69

    h-index

  3. The Journal of Clinical Endocrinology & Metabolism

    JCEM · 105 publications · 10.3K citations

    59

    h-index

  4. Human Mutation

    166 publications · 10.7K citations

    57

    h-index

  5. Nature Genetics

    56 publications · 26.7K citations

    55

    h-index

1–5