Associated Papers
Structural Mechanisms of SAMD9 Autoinhibition and Pathogenic Dysregulation.
Mou Z et al.
Biorxiv : the Preprint Server for Biology, 2026
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
The landscape of tolerated genetic variation in humans and primates.
Gao H et al.
Biorxiv : the Preprint Server for Biology, 2023
37205491 (PubMed )
Supplement: media-2.xlsx › Sheet1
A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability.
Saito K et al.
Neonatology, 2023
Lacrimal Gland Hypoplasia and Corneal Anesthesia in MIRAGE Syndrome: A Case Report and Literature Review.
Basilious A et al.
Cornea, 2022
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.
Suntharalingham JP et al.
Frontiers in Endocrinology, 2022
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
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
Tumoural soft tissue calcification in Down syndrome: association with heterozygous germline SAMD9 mutation and hyperactive type I interferon signaling.
Deigendesch N et al.
Rheumatology (oxford, England), 2020
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB et al.
Haematologica, 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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