Associated Papers
Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.
Mou Z et al.
Biorxiv : the Preprint Server for Biology, 2026
Prenatal Features of MIRAGE Syndrome-Case Report and Review of the Literature.
Panaitescu AM et al.
Children (basel, Switzerland), 2024
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.
Buonocore F et al.
F1000research, 2023
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
Generation of human induced pluripotent stem cell lines from 2 patients with MIRAGE syndrome.
Fischer I et al.
Stem Cell Research, 2021
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
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 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
Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.
Buonocore F et al.
The Journal of Clinical Investigation, 2017
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