Associated Papers
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Correia Marques M et al.
Arthritis & Rheumatology (hoboken, N.j.), 2024
Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis.
Kadi Ozan Z et al.
Journal of Pediatric Hematology/oncology, 2024
Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.
Marques MC et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Functional role of UNC13D in immune diseases and its therapeutic applications.
Duong VT et al.
Frontiers in Immunology, 2024
UNC13D inhibits STING signaling by attenuating its oligomerization on the endoplasmic reticulum.
Song P et al.
Embo Reports, 2022
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing.
Batlle-Masó L et al.
European Journal of Medical Genetics, 2020
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
Woon ST et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E et al.
Journal of Medical Genetics, 2011
Multiple inherited sequence variations in two disease-causing genes in familial haemophagocytic lymphohistiocytosis.
Rudd E et al.
British Journal of Haematology, 2009
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
Rudd E et al.
Journal of Medical Genetics, 2008
Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis.
Santoro A et al.
Journal of Medical Genetics, 2006
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
Marcenaro S et al.
Blood, 2006