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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 <i>RCBTB1</i> variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophyAndrew J Catomeris, Brian G Ballios, Riccardo Sangermano, et al.
Medrxiv : the Preprint Server for Health Sciences|July 18, 2023
Structure-based network analysis predicts mutations associated with inherited retinal diseaseBlake M Hauser, Yuyang Luo, Anusha Nathan, et al.
Cold Spring Harbor Molecular Case Studies|November 3, 2021
A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genesHilary A Scott, Anna Larson, Shi Song Rong, et al.
American Journal of Human Genetics|December 23, 2025
Low population penetrance of variants associated with inherited retinal degenerationsKirill Zaslavsky, Liyin Chen, Chloe Park, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2018
Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degenerationFarzad Jamshidi, Emily M Place, Sudeep Mehrotra, et al.
NPJ Genomic Medicine|May 27, 2024
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal diseaseBlake M Hauser, Yuyang Luo, Anusha Nathan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerationsErin Zampaglione, Benyam Kinde, Emily M Place, et al.
Cold Spring Harbor Molecular Case Studies|February 5, 2020
Expanding the phenotypic spectrum in RDH12-associated retinal diseaseHilary A Scott, Emily M Place, Kevin Ferenchak, et al.
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