Associated Papers
Disease Progression in Age-Related Macular Degeneration Patients Carrying Rare Variants in the Complement Factor H or Complement Factor I Genes.
Cinque F et al.
Investigative Ophthalmology & Visual Science, 2025
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Phenotypic Expression of CFH Rare Variants in Age-Related Macular Degeneration Patients in the Coimbra Eye Study.
Farinha C et al.
Investigative Ophthalmology & Visual Science, 2022
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
de Jong S et al.
Human Molecular Genetics, 2022
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Lauwen S et al.
Molecular Vision, 2022
Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.
Martín Merinero H et al.
Blood, 2021
Genetic Risk in Families with Age-Related Macular Degeneration.
de Breuk A et al.
Ophthalmology Science, 2021
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
de Breuk A et al.
Jama Ophthalmology, 2021
Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.
Taylor RL et al.
Ophthalmology, 2019
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
Germline mutations in the alternative pathway of complement predispose to HELLP syndrome.
Vaught AJ et al.
Jci Insight, 2018
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
Highly penetrant alleles in age-related macular degeneration.
den Hollander AI et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Cuticular drusen: stars in the sky.
Boon CJ et al.
Progress in Retinal and Eye Research, 2013
Genetic factors associated with age-related macular degeneration.
Leveziel N et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2011
The spectrum of phenotypes caused by variants in the CFH gene.
Boon CJ et al.
Molecular Immunology, 2009
Basal laminar drusen caused by compound heterozygous variants in the CFH gene.
Boon CJ et al.
American Journal of Human Genetics, 2008