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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 10, 2020
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosisElena R Schiff, Malena Daich Varela, Anthony G Robson, et al.
Ophthalmology|October 24, 2013
Retinal structure and function in achromatopsia: implications for gene therapyVenki Sundaram, Caroline Wilde, Jonathan Aboshiha, et al.
American Journal of Human Genetics|January 9, 2008
Biallelic mutation of BEST1 causes a distinct retinopathy in humansRosemary Burgess, Ian D Millar, Bart P Leroy, et al.
Human Mutation|October 3, 2017
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in femalesAlessia Fiorentino, Kaoru Fujinami, Gavin Arno, et al.
Science (New York, N.Y.)|April 9, 2001
Control of nitrogen export from watersheds by headwater streamsB J Peterson, W M Wollheim, P J Mulholland, et al.
Clinical Pharmacology and Therapeutics|April 1, 2011
The innate immune response, clinical outcomes, and ex vivo HCV antiviral efficacy of a TLR7 agonist (PF-4878691)M D Fidock, B E Souberbielle, C Laxton, et al.
Ophthalmology|May 20, 2020
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United KingdomNikolas Pontikos, Gavin Arno, Neringa Jurkute, et al.
Ophthalmology. Retina|January 14, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom CohortSiying Lin, Sandra Vermeirsch, Nikolas Pontikos, et al.
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.
American Journal of Human Genetics|December 23, 2006
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degenerationJames S Friedman, Bo Chang, Chitra Kannabiran, et al.
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