Louise Ocaka

Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

Ordan J. Lehmann, Neil D. Ebenezer, Tim Jordan et al. · The American Journal of Human Genetics · 2000 · 148 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +8

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

Tin Aung, Louise Ocaka, Neil D. Ebenezer et al. · Human Genetics · 2001 · 139 citations

Opa1 Gene, Ocular Disease, Ophthalmology +7

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

Lamia Mestek, Emma Clement, Wendy D. Jones et al. · Journal of Medical Genetics · 2018 · 129 citations · Full text

Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy

Stephanie Halford, Gerald Liew, Donna S. Mackay et al. · Ophthalmology · 2014 · 100 citations · Full text

Urology, Degenerative Disease, Anatomy +3

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

Anna Thomas, Hywel Williams, Núria Setó‐Salvia et al. · The American Journal of Human Genetics · 2014 · 100 citations · Full text