Associated Papers
Normal Immune Function in a Newborn With Early Identification of a SAMD9 Mutation Presenting With Growth Restriction, Thrombocytopenia, and Primary Adrenal Insufficiency.
Gao KM et al.
Clinical Case Reports, 2025
Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest.
McSweeney K et al.
Experimental Hematology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
A familial SAMD9 variant present in pediatric myelodysplastic syndrome.
Rahim MQ et al.
Cold Spring Harbor Molecular Case Studies, 2023
Structure and function of an effector domain in antiviral factors and tumor suppressors SAMD9 and SAMD9L.
Peng S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Suntharalingham JP et al.
Frontiers in Endocrinology, 2022
Pediatric MDS and bone marrow failure-associated germline mutations in SAMD9 and SAMD9L impair multiple pathways in primary hematopoietic cells.
Thomas ME et al.
Leukemia, 2021
Advances in germline predisposition to acute leukaemias and myeloid neoplasms.
Klco JM et al.
Nature Reviews. Cancer, 2021
MIRAGE Syndrome Caused by a De Novo c.3406G>C (p. Glu1136Gln) Mutation in the SAMD9 Gene Presenting With Neonatal Adrenal Insufficiency and Recurrent Intussusception: A Case Report.
Chin X et al.
Frontiers in Endocrinology, 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
Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations.
Ahmed IA et al.
Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2019
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
Somatic mosaic monosomy 7 and UPD7q in a child with MIRAGE syndrome caused by a novel SAMD9 mutation.
Csillag B et al.
Pediatric Blood & Cancer, 2019
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J et al.
Leukemia, 2018
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
Shima H et al.
Journal of Medical Genetics, 2018
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 genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome.
Schwartz JR et al.
Leukemia, 2017