Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
Human Molecular Genetics|February 4, 2020
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single familiesRevital Bronstein, Elizabeth E Capowski, Sudeep Mehrotra, et al.
JCI Insight|September 12, 2024
Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnosticsKenji Nakamichi, Jennifer Huey, Riccardo Sangermano, et al.
Genome Research|November 23, 2017
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt diseaseRiccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, et al.
NPJ Genomic Medicine|April 10, 2026
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severityRiccardo Sangermano, Kaoru Fujinami, Suk Ho Byeon, et al.
Ophthalmology|September 18, 2014
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophySusanne Roosing, L Ingeborgh van den Born, Riccardo Sangermano, et al.
JAMA Network Open|May 31, 2024
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal DiseasesDongheon Surl, Dongju Won, Seung-Tae Lee, et al.
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
NPJ Genomic Medicine|November 8, 2024
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2025
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosaLorenzo Bianco, Julien Navarro, Christelle Michiels, et al.
Pageof 4