Associated Papers
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_31
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
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Nature Medicine, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the SAMD9 gene.
Baquedano-Lobera I et al.
Clinical Genetics, 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
The Neuropathology of MIRAGE Syndrome.
Viaene AN et al.
Journal of Neuropathology and Experimental Neurology, 2020
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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