Associated Papers
Generation of CRISPR/Cas9-edited human iPSC lines carrying homozygous and heterozygous SAMD9 p.I983S mutations.
Khiami M et al.
Stem Cell Research, 2024
Investigating ultrastructural morphology in MIRAGE syndrome-derived fibroblasts using transmission electron microscopy.
Buonocore F et al.
F1000research, 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
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Nature Medicine, 2021
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
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J et al.
Leukemia, 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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