Giuseppe Barrano
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Fetal and Pediatric Neurological Disorders, Genetics and Neurodevelopmental Disorders, Hedgehog Signaling Pathway Studies, Epigenetics and DNA Methylation
Most-Cited Works
- → Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome(2006)401 cited
- → CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders(2007)156 cited
- → AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders(2006)138 cited
- → RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders(2008)78 cited
- → Atypical phenotypes and clinical variability in a large Italian family with DYT1–primary torsion dystonia(2006)43 cited
- → Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy(2009)40 cited
- → A New Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus (HSAS)(2016)17 cited
- → 335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features(2012)14 cited
- → Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Generation Sequencing and Serological Analysis(2023)10 cited
- → Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis(2018)8 cited