Associated Papers
BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review.
Baldini L et al.
Immunology Letters, 2025
Charge-based immunoreceptor signalling in health and disease.
Shi X et al.
Nature Reviews. Immunology, 2025
Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?
Palmisani E et al.
Hemasphere, 2023
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing.
Alba-Pavón P et al.
Scientific Reports, 2023
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Belkadi A et al.
Cell Genomics, 2023
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Vela V et al.
Virchows Archiv : an International Journal of Pathology, 2022
Prevalence of Pathogenic and Potentially Pathogenic Inborn Error of Immunity Associated Variants in Children with Severe Sepsis.
Kernan KF et al.
Journal of Clinical Immunology, 2022
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).
Casamayor-Polo L et al.
Critical Reviews in Clinical Laboratory Sciences, 2021
Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration.
Zama D et al.
Immunity, Inflammation and Disease, 2021
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Sandling JK et al.
Annals of the Rheumatic Diseases, 2021
Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.
Torre-Fuentes L et al.
Cns Neuroscience & Therapeutics, 2020
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin EN et al.
Clinical Genetics, 2020
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.
Ben-Mustapha I et al.
Journal of Leukocyte Biology, 2018
The genetic landscape of dural marginal zone lymphomas.
Ganapathi KA et al.
Oncotarget, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
The expanding spectrum of the autoimmune lymphoproliferative syndromes.
Oliveira JB
Current Opinion in Pediatrics, 2013
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
Kuehn HS et al.
Journal of Immunology (baltimore, Md. : 1950), 2011