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Molecular Vision|December 4, 2009
A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunctionRobert H Henderson, Kathleen A Williamson, Joanna S Kennedy, et al.
Molecular Vision|January 21, 2010
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humansRobert H Henderson, Zheng Li, Mai M Abd El Aziz, et al.
Investigative Ophthalmology & Visual Science|February 12, 2011
Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutationsDonna S Mackay, Louise A Ocaka, Arundhati Dev Borman, et al.
Translational Vision Science & Technology|December 19, 2024
Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual FunctionAna Catalina Rodriguez-Martinez, Vijay K Tailor-Hamblin, Michael D Crossland, et al.
The British Journal of Ophthalmology|October 20, 2010
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1Robert H Henderson, Donna S Mackay, Zheng Li, et al.
Orphanet Journal of Rare Diseases|May 12, 2025
Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United KingdomSara E Mole, Paul Gissen, Shannon Nordstrom, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophyRobert H Henderson, Naushin Waseem, Rowan Searle, et al.
JAMA Ophthalmology|January 6, 2017
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis PigmentosaSarah Hull, Marcella Attanasio, Gavin Arno, et al.
Eye (London, England)|February 24, 2026
Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosisSohaib R Rufai, Dermot Roche, Riddhi Shenoy, et al.
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.
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