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Molecular Vision|March 20, 2010
Novel mutations in MERTK associated with childhood onset rod-cone dystrophyDonna S Mackay, Robert H Henderson, Panagiotis I Sergouniotis, et al.
Structure (London, England : 1993)|October 4, 2025
Structural basis for DCAF2 as a novel E3 ligase for PROTAC-mediated targeted protein degradationEvan J McMahon, Alexander G Cioffi, Patrick R Visperas, et al.
Human Mutation|December 31, 2013
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesityArundhati Dev Borman, Laura R Pearce, Donna S Mackay, et al.
American Journal of Human Genetics|August 16, 2006
Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humansHuimin Wu, Jill A Cowing, Michel Michaelides, et al.
Investigative Ophthalmology & Visual Science|April 26, 2008
Phenotypic variation in enhanced S-cone syndromeIsabelle Audo, Michel Michaelides, Anthony G Robson, et al.
Investigative Ophthalmology & Visual Science|August 9, 2014
A prospective longitudinal study of retinal structure and function in achromatopsiaJonathan Aboshiha, Adam M Dubis, Jill Cowing, et al.
Ophthalmology Science|April 23, 2026
Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-RetinopathyJuan C Romo-Aguas, Thales A C de Guimarāes, Angelos Kalitzeos, et al.
Clinical Genetics|June 12, 2024
Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activitySiying Lin, Anthony G Robson, Dorothy A Thompson, et al.
JAMA Dermatology|April 15, 2026
Consumer Understanding of Skin Concerns With an AI-Powered Informational ToolRory Sayres, Ayush Jain, Maya Venkatraman, et al.
Eye (London, England)|April 9, 2026
Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature reviewMohammad Anas, Andrew C Browning, Siying Lin, et al.
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