A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Lars G. Fritsche, Wilmar Igl, Jessica N. Cooke Bailey, +158

Nature Genetics

Genome-wide Association StudyOcular DiseaseOphthalmologyGeneticsAge-related Diseases +4

Seven new loci associated with age-related macular degeneration

Lars G. Fritsche, Wei Chen, Matthew Schu, +150

Nature Genetics

Ocular DiseaseOphthalmologyAge-related DiseasesPathologyNew Loci +1

Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids

Sangbae Kim, Albert Lowe, Rachayata Dharmat, +12

Proceedings of the National Academy of Sciences

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Xiaowei Zhan, David E. Larson, Chaolong Wang, +56

Nature Genetics

Complement SystemOcular DiseaseAutoimmune DiseaseOphthalmologyGenetic Disorder +10

Single-nuclei RNA-seq on human retinal tissue provides improved transcriptome profiling

Qingnan Liang, Rachayata Dharmat, Leah A. Owen, +11

Nature Communications

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Rinki Ratnapriya, Xiaowei Zhan, Robert N. Fariss, +62

Human Molecular Genetics

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Asif Javed, Amin Sabri, Denise J. Morgan, +36

Genetics in Medicine

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Tobias Strunz, Susette Lauwen, Christina Kiel, +162

Scientific Reports

The Utah Protocol for Postmortem Eye Phenotyping and Molecular Biochemical Analysis

Leah A. Owen, Akbar Shakoor, Denise J. Morgan, +7

Investigative Ophthalmology & Visual Science

Influence of ROBO1 and RORA on Risk of Age-Related Macular Degeneration Reveals Genetically Distinct Phenotypes in Disease Pathophysiology

Gyungah Jun, Michael Nicolaou, Margaux A. Morrison, +16

PLoS ONE

Ocular DiseaseGeneticsGenetic EpidemiologyHuman PolymorphismDisease Gene Identification +21