Associated Papers
Phenotype from SAMD9 Mutation at 7p21.2 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1.
Sills ES et al.
Global Medical Genetics, 2022
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Suntharalingham JP et al.
Frontiers in Endocrinology, 2022
Advances in germline predisposition to acute leukaemias and myeloid neoplasms.
Klco JM et al.
Nature Reviews. Cancer, 2021
Prevalence of germline GATA2 and SAMD9/9L variants in paediatric haematological disorders with monosomy 7.
Yoshida M et al.
British Journal of Haematology, 2020
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Formankova R et al.
Frontiers in Immunology, 2019
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.
Jeffries L et al.
American Journal of Medical Genetics. Part A, 2018
The complex domain architecture of SAMD9 family proteins, predicted STAND-like NTPases, suggests new links to inflammation and apoptosis.
Mekhedov SL et al.
Biology Direct, 2017
28545555 (PubMed )
Supplement: 13062_2017_185_MOESM2_ESM.pdf
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.
Narumi S et al.
Nature Genetics, 2016
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