Panagiotis I. Sergouniotis

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 711 citations · Full text

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

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 245 citations · Full text

Ciliopathy Genes, Functional Genomics, Glioma +10

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

Zheng Li, Panagiotis I. Sergouniotis, Michel Michaelides et al. · The American Journal of Human Genetics · 2009 · 199 citations · Full text

Genetic Disorder, Genetics, Recessive Mutations +4

Retinal Structure and Function in Achromatopsia

Venki Sundaram, Caroline Wilde, Jonathan Aboshiha et al. · Ophthalmology · 2013 · 174 citations · Full text

Retina, Ophthalmology, Retinal Structure +4