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JAMA Ophthalmology|September 24, 2020
Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis PigmentosaJasmina Cehajic-Kapetanovic, Michelle E McClements, Jennifer Whitfield, et al.
Ophthalmic Genetics|September 19, 2024
A novel frameshift variant in <i>LAMP2</i> gene mimicking choroideremia carrier retinopathyAkshay Narayan, Laura J Taylor, Sian Sperring, et al.
Genes|November 3, 2020
Novel Pathogenic Sequence Variants in <i>NR2E3</i> and Clinical Findings in Three PatientsSaoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford, et al.
Ophthalmic Genetics|August 29, 2022
MERTK missense variants in three patients with retinitis pigmentosaFederica E Poli, Imran H Yusuf, Penny Clouston, et al.
JAMA Ophthalmology|September 6, 2019
Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200Imran H Yusuf, Johannes Birtel, Morag E Shanks, et al.
Acta Ophthalmologica|January 29, 2019
Atypical choroideremia presenting with early-onset macular atrophyGeorgios Kontos, Jennifer Kwan, Kanmin Xue, et al.
Ophthalmic Genetics|November 24, 2018
Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variantJasmina Cehajic-Kapetanovic, Charles L Cottriall, Jasleen K Jolly, et al.
Genes|June 28, 2023
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in <i>RS1</i>, and Skewed X-InactivationJennifer Kirkby, Stephanie Halford, Morag Shanks, et al.
Eye (London, England)|July 31, 2020
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS"Olivia Cundy, Suzanne Broadgate, Stephanie Halford, et al.
JAMA Ophthalmology|April 3, 2020
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence VariationsMital Shah, Suzanne Broadgate, Morag Shanks, et al.
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