Graeme C. Black

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Yaoqin Gong, Roger B. Slee, N Fukai et al. · Cell · 2001 · 2.2K citations · Full text

Bone Accrual, Sclerostin, Signal Transduction +8

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 834 citations · Full text

Engineering, Genetics, Updated Hpo Database +19

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

Robert E. MacLaren, Markus Groppe, Alun R. Barnard et al. · The Lancet · 2014 · 769 citations · Full text

Phase 1/2, Gene Therapies, Retinal Gene Therapy +7

A foundation model for generalizable disease detection from retinal images

Yukun Zhou, Mark A. Chia, Siegfried K. Wagner et al. · Nature · 2023 · 697 citations · Full text

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

Juha Kolehmainen, Graeme C. Black, Anne Saarinen et al. · The American Journal of Human Genetics · 2003 · 373 citations · Full text

Cohen Syndrome Is, Molecular Physiology, Disease Mechanism +10