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Investigative Ophthalmology & Visual Science|August 29, 2025
Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis PigmentosaMark J Hughes, Tina Lamey, Elena R Schiff, et al.
Investigative Ophthalmology & Visual Science|June 4, 2016
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal RetinoschisisAjoy Vincent, Judith Ng, Christina Gerth-Kahlert, et al.
Investigative Ophthalmology & Visual Science|September 4, 2020
Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant ExonizationMatteo Di Scipio, Erika Tavares, Shriya Deshmukh, et al.
Human Molecular Genetics|November 2, 2021
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotypeLaurence M Occelli, Anahita Daruwalla, Samantha R De Silva, et al.
Ophthalmology Science|January 15, 2025
Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) StudyDavid G Birch, Peiyao Cheng, Maureen G Maguire, et al.
Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.
JAMA Ophthalmology|May 26, 2017
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal DegenerationCristy A Ku, Sarah Hull, Gavin Arno, et al.
Translational Vision Science & Technology|November 2, 2020
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at BaselineDavid G Birch, Peiyao Cheng, Jacque L Duncan, et al.
Investigative Ophthalmology & Visual Science|August 2, 2017
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel MutationsChristina Gerth-Kahlert, Amit Tiwari, James V M Hanson, et al.
JCI Insight|October 22, 2024
Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplicationRabiat Adele, Rowaida Hussein, Erika Tavares, et al.
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