Hannah Knight

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Nikolas Pontikos, Gavin Arno, Neringa Jurkutė et al. · Ophthalmology · 2020 · 258 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

Siying Lin, Sandra Vermeirsch, Nikolas Pontikos et al. · Ophthalmology Retina · 2024 · 38 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

Malena Daich Varela, James Bellingham, Fabiana Louise Motta et al. · Human Molecular Genetics · 2022 · 32 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

Alexander Tanner, Hwei Wuen Chan, José S. Pulido et al. · Ophthalmology · 2020 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15