Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
CryoEM structure of the SLFN14 endoribonuclease reveals insight into RNA binding and cleavage.
Van Riper J et al.
Nature Communications, 2025
Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia.
Xie H et al.
Molecular Therapy. Nucleic Acids, 2025
Severe Thrombocytopenia Is Associated with a Genetic Variant in the Helicase Domain of SLFN14 Gene: A Case Report.
Yang K et al.
Ejhaem, 2025
Structural and functional characterization of human SLFN14.
Luo M et al.
Nucleic Acids Research, 2025
Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.
Sato D et al.
Pediatric Hematology and Oncology, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1
Ribosome dysfunction underlies SLFN14-related thrombocytopenia.
Ver Donck F et al.
Blood, 2023
Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome.
Polokhov D et al.
Orphanet Journal of Rare Diseases, 2023
Role of the novel endoribonuclease SLFN14 and its disease-causing mutations in ribosomal degradation.
Fletcher SJ et al.
Rna (new York, N.y.), 2018
SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia.
Marconi C et al.
Thrombosis and Haemostasis, 2016
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