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JAMA Ophthalmology|March 13, 2025
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and SeveritySiyin Liu, Amanda N Sadan, Nihar Bhattacharyya, et al.
EMBO Molecular Medicine|August 28, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenitaHemanth Tummala, Amanda J Walne, Mohsin Badat, et al.
American Journal of Medical Genetics. Part A|May 15, 2025
Perspectives on the Current and Future State of Artificial Intelligence in Medical GeneticsBenjamin D Solomon, Morgan Cheatham, Thales A C de Guimarães, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
American Journal of Ophthalmology|July 25, 2020
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2Lizhu Yang, Kwangsic Joo, Kazushige Tsunoda, et al.
JAMA Psychiatry|March 22, 2023
Association Between Retinal Features From Multimodal Imaging and SchizophreniaSiegfried K Wagner, Mario Cortina-Borja, Steven M Silverstein, et al.
BMJ Open|March 20, 2023
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)Quang Nguyen, William Woof, Nathaniel Kabiri, et al.
Translational Vision Science & Technology|September 17, 2025
Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt DiseaseAlexis Ceecee Britten-Jones, Saoud Al-Khuzaei, Matteo Rizzi, et al.
American Journal of Human Genetics|January 11, 2016
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2Alice E Davidson, Petra Liskova, Cerys J Evans, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
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