Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 2024
DOCK8 Mutation in Patient with Juvenile Idiopathic Arthritis and Sjögren's Syndrome.
Opoka-Winiarska V et al.
International Journal of Molecular Sciences, 2024
Sustained Response to Eculizumab in a Patient With COVID-19-Associated Acute Thrombotic Microangiopathy of the Allograft Kidney: A Case Report.
Rehman S et al.
Transplantation Proceedings, 2023
Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes.
Fan Q et al.
Nature Communications, 2023
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Connaughton DM et al.
Journal of Molecular Medicine (berlin, Germany), 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.
Huan T et al.
Ophthalmology Science, 2023
Risk and protection of different rare protein-coding variants of complement component C4A in age-related macular degeneration.
Seddon JM et al.
Frontiers in Genetics, 2023
Systems genomics in age-related macular degeneration.
den Hollander AI et al.
Experimental Eye Research, 2022
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
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
Germline rare variants of lectin pathway genes predispose to asymptomatic SARS-CoV-2 infection in elderly individuals.
D'Alterio G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Molecular Genetic Mechanisms in Age-Related Macular Degeneration.
Shughoury A et al.
Genes, 2022
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Acar IE et al.
Journal of Personalized Medicine, 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
Structural basis of soluble membrane attack complex packaging for clearance.
Menny A et al.
Nature Communications, 2021
The rare C9 P167S risk variant for age-related macular degeneration increases polymerization of the terminal component of the complement cascade.
McMahon O et al.
Human Molecular Genetics, 2021
Rare and Common Genetic Variants, Smoking, and Body Mass Index: Progression and Earlier Age of Developing Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 2020
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Ratnapriya R et al.
Human Molecular Genetics, 2020
Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.
Merle BMJ et al.
Investigative Ophthalmology & Visual Science, 2020
Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.
Seddon JM et al.
American Journal of Ophthalmology, 2019
Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.
Kremlitzka M et al.
Human Molecular Genetics, 2018
C3 Glomerulopathy: Ten Years' Experience at Mayo Clinic.
Ravindran A et al.
Mayo Clinic Proceedings, 2018
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Douillard A et al.
Scientific Reports, 2018
Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.
Larsen CP et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2018
Geographic distribution of rare variants associated with age-related macular degeneration.
Geerlings MJ et al.
Molecular Vision, 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
The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.
Geerlings MJ et al.
Jama Ophthalmology, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.
Yu Y et al.
Human Molecular Genetics, 2016
Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.
Momozawa Y et al.
Human Molecular Genetics, 2016
AMD and the alternative complement pathway: genetics and functional implications.
Tan PL et al.
Human Genomics, 2016
Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
Saksens NT et al.
Jama Ophthalmology, 2016
Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration.
den Hollander AI
Investigative Ophthalmology & Visual Science, 2016
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG et al.
Nature Genetics, 2016
Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates.
Seddon JM et al.
Investigative Ophthalmology & Visual Science, 2015
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
New loci and coding variants confer risk for age-related macular degeneration in East Asians.
Cheng CY et al.
Nature Communications, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Highly penetrant alleles in age-related macular degeneration.
den Hollander AI et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.
Yu Y et al.
Human Molecular Genetics, 2014
Genetic variants in the complement system predisposing to age-related macular degeneration: a review.
Schramm EC et al.
Molecular Immunology, 2014
Nature and nurture- genes and environment- predict onset and progression of macular degeneration.
Sobrin L et al.
Progress in Retinal and Eye Research, 2014
Age-related macular degeneration: genetics and biology coming together.
Fritsche LG et al.
Annual Review of Genomics and Human Genetics, 2014
Age-related macular degeneration: insights into inflammatory genes.
Cascella R et al.
Journal of Ophthalmology, 2014