Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Clinical and genetic analysis of macrophage activation syndrome complicating juvenile idiopathic inflammatory myopathies.
Li G et al.
Pediatric Research, 2025
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M et al.
Blood, 2011
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
Molecular basis of familial hemophagocytic lymphohistiocytosis.
Cetica V et al.
Haematologica, 2010
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Santoro A et al.
Haematologica, 2008
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