Concepedia

Samd9 Disorders

SAMD9 Disorders is a monogenic disorder of bone marrow failure characterized by germline gain-of-function mutations in the *SAMD9* gene, leading to aberrant cellular proliferation control and multisystemic manifestations with variable penetrance.

35

Publications

2.5K

Citations

458

Authors

229

Institutions

Publications per year

2017–2026

26

Parents

Publications

35

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

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

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Federica Buonocore, Peter Kühnen, Jenifer P. Suntharalingham et al. · Journal of Clinical Investigation · 2017 · 170 citations · Full text

, , +17

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 35

Authors

458

  1. SN
    Satoshi Narumi

    Keio University, Japan

    9 publications · 576 citations

    9

    h-index

  2. HS
    Hirohito Shima

    National Center For Child Health and Development, Japan

    5 publications · 192 citations

    5

    h-index

  3. CM
    Charlotte M. Niemeyer

    University of Freiburg, Germany

    4 publications · 609 citations

    3

    h-index

  4. KT
    Kanako Tanase‐Nakao

    National Center For Child Health and Development, Japan

    3 publications · 62 citations

    3

    h-index

  5. BS
    Brigitte Strahm

    University Medical Center Freiburg, Germany

    3 publications · 441 citations

    3

    h-index

1–5 of 458

Institutions

229

  1. National Center For Child Health and Development

    Tokyo, Japan

    9 h-index

    34 publications

    1.6K citations

  2. Keio University

    Tokyo, Japan

    5 h-index

    16 publications

    2.8K citations

  3. St. Jude Children's Research Hospital

    Memphis, United States

    4 h-index

    26 publications

    2.6K citations

  4. University College London

    London, United Kingdom

    4 h-index

    18 publications

    1.5K citations

  5. Medizinische Hochschule Hannover

    Hanover, Germany

    3 h-index

    8 publications

    1.3K citations

  6. University Medical Center Freiburg

    Freiburg im Breisgau, Germany

    3 h-index

    35 publications

    5.4K citations

  7. Rambam Health Care Campus

    Haifa, Israel

    3 h-index

    7 publications

    775 citations

  8. German Cancer Research Center

    Heidelberg, Germany

    3 h-index

    15 publications

    2.3K citations

1–8 of 229

Venues

  1. The American Journal of Human Genetics

    AJHG · 2 publications · 272 citations

    2

    h-index

  2. Journal of Investigative Dermatology

    JID · 2 publications · 169 citations

    2

    h-index

  3. PLoS ONE

    2 publications · 40 citations

    2

    h-index

  4. Journal of Clinical Investigation

    JCI · 2 publications · 193 citations

    2

    h-index

  5. Frontiers in Endocrinology

    2 publications · 44 citations

    2

    h-index

1–5