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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.
Research Square|February 26, 2024
Coding and non-coding variants in the ciliopathy gene <i>CFAP410</i> cause early-onset non-syndromic retinal degenerationRiccardo Sangermano, Priya Gupta, Cherrell Price, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)Erin Zampaglione, Matthew Maher, Emily M Place, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 21, 2014
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencingMark B Consugar, Daniel Navarro-Gomez, Emily M Place, 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.
Plos Genetics|September 29, 2025
Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screenJanine M Wotton, Mark P Krebs, Riccardo Sangermano, et al.
NPJ Genomic Medicine|June 30, 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRDRiccardo Sangermano, Iris Deitch, Virginie G Peter, et al.
Investigative Ophthalmology & Visual Science|June 29, 2021
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille SyndromeMariana Matioli da Palma, Austin D Igelman, Cristy Ku, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
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