Panagiotis I. Sergouniotis
Publications by Year
Research Areas
Retinal Development and Disorders, Retinal Diseases and Treatments, Genomics and Rare Diseases, Retinal Imaging and Analysis, Genetic Associations and Epidemiology
Most-Cited Works
- → The Human Phenotype Ontology in 2017(2016)796 cited
- → A foundation model for generalizable disease detection from retinal images(2023)740 cited
- → Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources(2018)732 cited
- → An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes(2015)245 cited
- → Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans(2009)207 cited
- → Retinal Structure and Function in Achromatopsia(2013)175 cited
- → Molecular findings from 537 individuals with inherited retinal disease(2016)166 cited
- → Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease(2016)165 cited
- → Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis(2011)141 cited
- → Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa(2016)130 cited