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
Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.
Ma J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
40386946 (PubMed )
Supplement: EMS206315-supplement-Supplementary_Table_5.xlsx › Sheet1
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc7.xlsx › Suppl_Table_6
Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.
Wang T et al.
Ebiomedicine, 2022
35665681 (PubMed )
Supplement: mmc24.xlsx › Sheet1
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
31440263 (PubMed )
Supplement: Table_1.DOCX
Novel Mutations Causing C5 Deficiency in Three North-African Families.
Colobran R et al.
Journal of Clinical Immunology, 2016
A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases.
Owen EP et al.
Molecular Immunology, 2015
[Hereditary deficiency of complement in humans and animals].
Pozsgi N
Microbiologia, Parazitologia, Epidemiologia, 0
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