Graeme C. Black
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Ocular Disorders and Treatments, Glaucoma and retinal disorders, Genomics and Rare Diseases
Most-Cited Works
- → LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development(2001)2,234 cited
- → Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies(2019)1,337 cited
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial(2014)771 cited
- → A foundation model for generalizable disease detection from retinal images(2023)740 cited
- → Whole-genome sequencing of patients with rare diseases in a national health system(2020)568 cited
- → Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis(2017)549 cited
- → Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport(2003)374 cited
- → Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q(2004)370 cited
- → Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR(2020)347 cited