Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Consensus of the Italian Primary Immunodeficiency Network on the use and interpretation of genetic testing for diagnosing inborn errors of immunity.
Giardino G et al.
The Journal of Allergy and Clinical Immunology, 2025
Novel Genetic Variants Associated with Primary Myocardial Fibrosis in Sudden Cardiac Death Victims.
Skarp S et al.
Journal of Cardiovascular Translational Research, 2024
Concomitant Ultrarare Mutations in TLR3 and CTPS2 in a Patient with Severe and Recurrent Respiratory Infections in Early Life.
Bougarn S et al.
Journal of Clinical Immunology, 2024
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
Genomic analysis of a Palestinian family with inherited cancer syndrome: a next-generation sequencing study.
Fares E et al.
Frontiers in Genetics, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.
Sobel Naveh NS et al.
Hepatology Communications, 2022
Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.
Abuhammour W et al.
Jama Network Open, 2022
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
Azzarà A et al.
Plos One, 2022
Inborn errors of TLR3- or MDA5-dependent type I IFN immunity in children with enterovirus rhombencephalitis.
Chen J et al.
The Journal of Experimental Medicine, 2021
Genetic variability in COVID-19-related genes in the Brazilian population.
Secolin R et al.
Human Genome Variation, 2021
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.
Elhabyan A et al.
Virus Research, 2020
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
Partanen T et al.
Journal of Clinical Immunology, 2020
Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.
Andersen LL et al.
Genes and Immunity, 2019
TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis.
Sironi M et al.
The Journal of Infectious Diseases, 2017
Genetic variation of the Toll-like receptors in a Swedish allergic rhinitis case population.
Henmyr V et al.
Bmc Medical Genetics, 2017
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
Mørk N et al.
Genes and Immunity, 2015