Associated Papers
Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation.
Birch CL et al.
Journal of Translational Medicine, 2025
41444612 (PubMed )
Supplement: 12967_2025_7586_MOESM8_ESM.xlsx › Data
Genetic determinants of the complement and coagulation pathways in invasive meningococcal disease.
Bellos E et al.
The Journal of Allergy and Clinical Immunology, 2025
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Dashti M et al.
Frontiers in Cellular and Infection Microbiology, 2024
FarGen: Elucidating the distribution of coding variants in the isolated population of the Faroe Islands.
Mortensen Ó et al.
European Journal of Human Genetics : Ejhg, 2023
Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan.
Perfilyeva A et al.
Disease Markers, 2022
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Lehmkuhl P et al.
Cellular & Molecular Immunology, 2021
34059789 (PubMed )
Supplement: 41423_2021_701_MOESM3_ESM.xlsx › 270
Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease.
Zhang AQ et al.
Experimental and Therapeutic Medicine, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
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
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Zastrow DB et al.
Cold Spring Harbor Molecular Case Studies, 2017
28050602 (PubMed )
Supplement: supp_mcs.a001388_TableS1.xls › Clinical_Clinvar
Compound heterozygous mutations in the C6 gene of a child with recurrent infections.
Westra D et al.
Molecular Immunology, 2014
Select a paper to view details