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_32
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
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
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB et al.
Haematologica, 2018
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
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