Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
41300788 (PubMed )
Supplement: genes-16-01336-s001.zip › genes-3947445-supplementary.pdf
Assessing the digenic model in rare disorders using population sequencing data.
Moreno-Ruiz N et al.
European Journal of Human Genetics : Ejhg, 2022
Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients.
Bąbol-Pokora K et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2021
Central nervous system involvement in adult-onset relapsing hemophagocytic lymphohistiocytosis responsive to maintenance treatment with anakinra.
Hiraldo JDG et al.
Journal of Neuroimmunology, 2021
Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis.
Steen EA et al.
Frontiers in Immunology, 2021
Predicting disease-causing variant combinations.
Papadimitriou S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
31127050 (PubMed )
Supplement: pnas.1815601116.sapp.pdf
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
Ono S et al.
International Journal of Hematology, 2018
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.
Kaufman KM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K et al.
Blood, 2011
Select a paper to view details