Associated Papers
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders.
Granath K et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
40326640 (PubMed )
Supplement: MDS-40-1851-s003.xlsx › Variants
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
Molecular epidemiology of hereditary ataxia in Finland.
Lipponen J et al.
Bmc Neurology, 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
Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
Vaughan D et al.
Journal of the Peripheral Nervous System : Jpns, 2020
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.
Davidsson J et al.
Leukemia, 2018
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
Select a paper to view details