Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia DefectsKonstantinos Nikopoulos, Carlo Rivolta, Sarah Decembrini et al.|The American Journal of Human Genetics|2016Cited by 60
Mutations in the polyglutamylase gene<i>TTLL5</i>, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Carlo Rivolta, Lonneke Haer‐Wigman et al.|Human Molecular Genetics|2016Cited by 37
Whole exome sequencing reveals CEP78 as a novel disease gene for cone-rod dystrophyKonstantinos Nikopoulos, Carlo Rivolta, Pietro Farinelli et al.|Investigative Ophthalmology & Visual Science|2016Cited by 1
Whole exome screening and identification of novel variants in a cohort of 28 Greek and Swedish families with cone-rod dystrophy.Nicola Bedoni, Carlo Rivolta, Konstantinos Nikopoulos et al.|Investigative Ophthalmology & Visual Science|2016Cited by 0
Whole Genome Sequencing identifies a structural variant in the EYS gene in retinitis pigmentosa patients.Katarina Cisarova, Carlo Rivolta, Nicola Bedoni et al.|Investigative Ophthalmology & Visual Science|2016Cited by 0