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Research Square|November 24, 2025
Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assayRiccardo Sangermano, Egle Galdikaite-Braziene, Kinga M BujakowskaAdvances in Experimental Medicine and Biology|July 13, 2023
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome GenesRiccardo Sangermano, Egle Galdikaité-Braziené, Kinga M BujakowskaAdvances in Experimental Medicine and Biology|February 10, 2025
Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone DegenerationRiccardo Sangermano, Emily M Place, Eric A Pierce, et al.Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire|March 28, 2020
Lactoferrin and oral pathologies: a therapeutic treatmentLuigi Rosa, Maria Stefania Lepanto, Antimo Cutone, et al.Journal of Pediatric Gastroenterology and Nutrition|June 20, 2012
Autosomal dominant Ménétrier-like diseaseCaterina Strisciuglio, Vito D Corleto, Nicola Brunetti-Pierri, et al.Cold Spring Harbor Molecular Case Studies|November 14, 2022
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degenerationRiccardo Sangermano, Pooja Biswas, Lori S Sullivan, et al.Research Square|June 5, 2025
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic retinal degenerationRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.Ophthalmic Genetics|January 21, 2022
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophyAndrew J Catomeris, Brian G Ballios, Riccardo Sangermano, et al.American Journal of Human Genetics|March 13, 2018
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt DiseaseSilvia Albert, Alejandro Garanto, Riccardo Sangermano, et al.International Journal of Molecular Sciences|April 1, 2020
In or Out? New Insights on Exon Recognition through Splice-Site InterdependencyMubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano, et al.Pageof 4