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Cell Stem Cell|May 7, 2016
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic CupsDavid A Parfitt, Amelia Lane, Conor M Ramsden, et al.
American Journal of Medical Genetics. Part A|July 31, 2021
Auditory and olfactory findings in patients with USH2A-related retinal degeneration-Findings at baseline from the rate of progression in USH2A-related retinal degeneration natural history study (RUSH2A)Alessandro Iannaccone, Carmen C Brewer, Peiyao Cheng, et al.
The Journal of Clinical Endocrinology and Metabolism|October 23, 2021
Adjuvant Rituximab-Exploratory Trial in Young People With Graves DiseaseTim D Cheetham, Michael Cole, Mario Abinun, et al.
Bioorganic & Medicinal Chemistry Letters|December 20, 2003
(4-Piperidinylphenyl)aminoethyl amides as a novel class of non-covalent cathepsin K inhibitorsTae-Seong Kim, Andrew B Hague, Tony I Lee, et al.
Human Molecular Genetics|December 17, 2010
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal proteinChristina F Chakarova, Hemant Khanna, Amna Z Shah, et al.
American Journal of Human Genetics|March 13, 2018
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated ToxicityChristina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, et al.
Pharmacoepidemiology and Drug Safety|April 19, 2013
Methods of linking mothers and infants using health plan data for studies of pregnancy outcomesKarin E Johnson, Sarah J Beaton, Susan E Andrade, et al.
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
Investigative Ophthalmology & Visual Science|July 30, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical TrialsMalena Daich Varela, Juan Carlos Romo-Aguas, Rosellina Guarascio, et al.
Nature Genetics|October 7, 2008
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosaMai M Abd El-Aziz, Isabel Barragan, Ciara A O'Driscoll, et al.
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