Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Assessing Long-Term Neurologic Outcomes in SAMD9L-Related Ataxia-Pancytopenia Syndrome.
Zingariello CD et al.
Movement Disorders Clinical Practice, 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
Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants.
Gahr S et al.
Experimental Cell Research, 2023
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
Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L-Associated Neuropathy.
Eggermann K et al.
Genes, 2022
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
Ataxia-Pancytopenia Syndrome due to a de Novo SAMD9L Mutation.
King-Robson J et al.
Neurology. Genetics, 2021
Germline SAMD9L truncation variants trigger global translational repression.
Allenspach EJ et al.
The Journal of Experimental Medicine, 2021
Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.
Blombery P et al.
Haematologica, 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
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Bluteau O et al.
Blood, 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