Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S et al.
Journal of Neurology, 2024
New SAMD9L heterozygous mutation leading to myelodysplastic syndrome and acute myeloid leukemia: A case report and review of the literature.
Monagel DA
Cancer Reports (hoboken, N.j.), 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
Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant.
Paucar M et al.
Neurology. Genetics, 2021
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
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.
Sahoo SS et al.
Nature Medicine, 2021
SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.
Russell AJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Germline SAMD9L truncation variants trigger global translational repression.
Allenspach EJ et al.
The Journal of Experimental Medicine, 2021
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes.
Nagamachi A et al.
The Journal of Clinical Investigation, 2021
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
Vaughan D et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
de Jesus AA et al.
The Journal of Clinical Investigation, 2020
A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.
Cheah JJC et al.
Haematologica, 2019
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
Wong JC et al.
Jci Insight, 2018
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB et al.
Haematologica, 2018
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR et al.
Nature Communications, 2017
Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S et al.
Neurology. Genetics, 2017
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B et al.
Blood, 2017
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Chen DH et al.
American Journal of Human Genetics, 2016