Associated Papers
Whole-Exome Sequencing Reveals Rare Genetic Variants in Saudi COVID-19 Patients with Extreme Phenotypes.
Mir R et al.
Viruses, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Whole-Exome Sequencing Detecting a Recurrent Pathogenic Mutation, HFE p.His63Asp (H63D) in COVID-19 Patients and Its Effect on Mortality.
Mir R et al.
Discovery Medicine, 2024
Rare genetic variants involved in multisystem inflammatory syndrome in children: a multicenter Brazilian cohort study.
Reis BCSD et al.
Frontiers in Cellular and Infection Microbiology, 2023
Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis.
Staels F et al.
Case Reports in Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
Complete deficiency of the sixth complement component (C6Q0), susceptibility to Neisseria meningitidis infections and analysis of the frequencies of C6Q0 gene defects in South Africans.
Orren A et al.
Clinical and Experimental Immunology, 2012
Prevalence of mutations leading to complete C6 deficiency (C6Q0) in the Western Cape, South Africa and detection of novel mutations leading to C6Q0 in an Irish family.
Parham KL et al.
Molecular Immunology, 2007
Deficiency of the sixth component of complement and susceptibility to Neisseria meningitidis infections: studies in 10 families and five isolated cases.
Orren A et al.
Immunology, 1987
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