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
The different faces of GATA2 deficiency: implications for therapy and surveillance.
Vinci L et al.
Frontiers in Oncology, 2024
Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.
Miguel Berenguel L et al.
Frontiers in Immunology, 2024
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Homan CC et al.
Blood Advances, 2023
37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
35993808 (PubMed )
Supplement: gkac686_supplemental_files.zip › Table_S4_The_positive_and_negative_splicing_variants_benchmarker.xlsx › ROC
Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.
Barmettler S et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2022
GATA2 deficiency syndrome: A decade of discovery.
Homan CC et al.
Human Mutation, 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
GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes.
Bruzzese A et al.
Cancers, 2020
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.
Kozyra EJ et al.
Leukemia, 2020
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Brown AL et al.
Blood, 2020
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