Concepedia

Samd9l Disorders

SAMD9L Disorders is a monogenic inherited bone marrow failure syndrome characterized by germline mutations in the SAMD9L gene that lead to dysregulated cell proliferation and increased risk of myelodysplasia and leukemia.

29

Publications

2.4K

Citations

377

Authors

193

Institutions

Publications per year

2017–2026

20

Parents

Publications

29

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Satoshi Narumi, Naoko Amano, Tomohiro Ishii et al. · Nature Genetics · 2016 · 333 citations

, , +11

The genomic landscape of pediatric myelodysplastic syndromes

Jason R. Schwartz, Jing Ma, Tamara Lamprecht et al. · Nature Communications · 2017 · 211 citations · Full text

, , +17

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Bianca Tesi, Josef Davidsson, Elisa Rahikkala et al. · Blood · 2017 · 202 citations · Full text

, , +14

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Dong-Hui Chen, Jennifer E. Below, Akiko Shimamura et al. · The American Journal of Human Genetics · 2016 · 179 citations · Full text

, , +14

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Sushree Sangita Sahoo, Victor B. Pastor, Charnise Goodings et al. · Nature Medicine · 2021 · 168 citations · Full text

, , +17

1–5 of 29

Authors

377

  1. JR
    Jason R. Schwartz

    St. Jude Children's Research Hospital, United States

    6 publications · 474 citations

    6

    h-index

  2. JM
    Jing Ma

    St. Jude Children's Research Hospital, United States

    5 publications · 427 citations

    5

    h-index

  3. JM
    Jeffery M. Klco

    St. Jude Children's Research Hospital, United States

    5 publications · 427 citations

    5

    h-index

  4. SN
    Satoshi Narumi

    Keio University, Japan

    4 publications · 439 citations

    4

    h-index

  5. ES
    Eli Sprecher

    Tel Aviv Sourasky Medical Center, Israel

    3 publications · 181 citations

    3

    h-index

1–5 of 377

Institutions

193

  1. St. Jude Children's Research Hospital

    Memphis, United States

    7 h-index

    52 publications

    5.9K citations

  2. Hiroshima University

    Hiroshima, Japan

    4 h-index

    16 publications

    1.5K citations

  3. National Center For Child Health and Development

    Tokyo, Japan

    4 h-index

    17 publications

    1.2K citations

  4. Skåne University Hospital

    Lund, Sweden

    3 h-index

    7 publications

    1.2K citations

  5. Seattle Children's Hospital

    Seattle, United States

    3 h-index

    6 publications

    374 citations

  6. University of Washington

    Seattle, United States

    3 h-index

    23 publications

    2.2K citations

  7. Vanderbilt University Medical Center

    Nashville, United States

    3 h-index

    3 publications

    125 citations

  8. Medizinische Hochschule Hannover

    Hanover, Germany

    3 h-index

    8 publications

    1.3K citations

1–8 of 193

Venues

  1. Journal of Investigative Dermatology

    JID · 3 publications · 181 citations

    3

    h-index

  2. Blood

    3 publications · 240 citations

    2

    h-index

  3. Journal of Clinical Investigation

    JCI · 2 publications · 42 citations

    2

    h-index

  4. Nature Genetics

    1 publications · 333 citations

    1

    h-index

  5. Journal of Virology

    JVI · 1 publications · 27 citations

    1

    h-index

1–5