Associated Papers
Genetic determinants of the complement and coagulation pathways in invasive meningococcal disease.
Bellos E et al.
The Journal of Allergy and Clinical Immunology, 2025
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
Association of IgG4-related disease with human inborn errors of immunity.
Batani V et al.
Rheumatology (oxford, England), 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.
Martin M et al.
Kidney International Reports, 2024
Rare variants in complement system genes associate with endothelial damage after pediatric allogeneic hematopoietic stem cell transplantation.
Leimi L et al.
Frontiers in Immunology, 2023
Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene.
Sharma R et al.
Frontiers in Oncology, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Comprehensive Update and Revision of Nomenclature on Complement C6 and C7 Variants.
Massri M et al.
Journal of Immunology (baltimore, Md. : 1950), 2022
Identification of candidate genes in a family with cancer overload by whole-exome sequencing.
Ödemiş DA et al.
The Turkish Journal of Pediatrics, 2022
Rare Genetic Variants in Immune Genes and Neonatal Herpes Simplex Viral Infections.
Cummings L et al.
Pediatrics, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Frans G et al.
Journal of Clinical Immunology, 2017
Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease.
Kuijpers TW et al.
Molecular Immunology, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.
Rameix-Welti MA et al.
European Journal of Immunology, 2007
Molecular defects of the C7 gene in two patients with complement C7 deficiency.
Barroso S et al.
Immunology, 2006