Associated Papers
Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.
Hallam TM et al.
The Journal of Biological Chemistry, 2024
38852887 (PubMed )
Supplement: mmc1.docx
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency.
Naesens L et al.
The Journal of Allergy and Clinical Immunology, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
de Jong S et al.
Frontiers in Immunology, 2021
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 2020
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
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFI
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
27939104 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
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