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Genes|April 29, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome DataValentina Cipriani, Nikolas Pontikos, Gavin Arno, et al.
Ophthalmic Genetics|June 22, 2017
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalitiesValentina Cipriani, Ambreen Kalhoro, Gavin Arno, et al.
BMJ Open|June 24, 2019
One- and two-year visual outcomes from the Moorfields age-related macular degeneration database: a retrospective cohort study and an open science resourceKatrin Fasler, Gabriella Moraes, Siegfried Wagner, et al.
Eye (London, England)|January 15, 2025
Macular, choroidal and disc associations across women's reproductive life stages: a scoping review from menarche to post-menopauseAna Paula Ribeiro Reis, Estelle Ioannidou, Kelsey V Stuart, et al.
Communications Biology|March 3, 2021
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorderRoberto Bonelli, Victoria E Jackson, Aravind Prasad, et al.
Ophthalmology|November 24, 2022
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural HistoryMichalis Georgiou, Anthony G Robson, Katarina Jovanovic, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 20, 2022
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopiaXiaofan Jiang, Zihe Xu, Talha Soorma, et al.
The British Journal of Ophthalmology|October 16, 2019
Moorfields AMD database report 2: fellow eye involvement with neovascular age-related macular degenerationKatrin Fasler, Dun Jack Fu, Gabriella Moraes, et al.
Acta Ophthalmologica|March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophySiyin Liu, Amanda N Sadan, Kirithika Muthusamy, et al.
American Journal of Human Genetics|November 15, 2016
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment DysgenesisSek-Shir Cheong, Lisa Hentschel, Alice E Davidson, et al.
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