Sabrina Signorini
Publications by Year
Research Areas
Tactile and Sensory Interactions, Genetic and Kidney Cyst Diseases, Fetal and Pediatric Neurological Disorders, Hedgehog Signaling Pathway Studies, Retinal Development and Disorders
Most-Cited Works
- → Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome(2006)401 cited
- → Spectrum of Visual Disorders in Children With Cerebral Visual Impairment(2007)230 cited
- → Cognitive visual dysfunctions in preterm children with periventricular leukomalacia(2009)189 cited
- → Neuro‐ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects(2012)171 cited
- → CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders(2007)156 cited
- → Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients(2007)144 cited
- → Visual–perceptual impairment in children with periventricular leukomalacia(2004)129 cited
- → BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome(2012)125 cited
- → MKS3/TMEM67mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement(2008)105 cited
- → Visual Function Classification System for children with cerebral palsy: development and validation(2019)90 cited