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Andrew R Webster

Showing results (291-300 of 339) with videos related to

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BMJ Open|March 20, 2023
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)Quang Nguyen, William Woof, Nathaniel Kabiri, 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.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Pageof 34

Showing results (291-300 of 339) with videos related to

Sort By:
Pageof 34
BMJ Open|March 20, 2023
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene)Quang Nguyen, William Woof, Nathaniel Kabiri, 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.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
American Journal of Human Genetics|November 28, 2016
Mutations in REEP6 Cause Autosomal-Recessive Retinitis PigmentosaGavin Arno, Smriti A Agrawal, Aiden Eblimit, et al.
American Journal of Human Genetics|December 3, 2013
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinismJames A Poulter, Musallam Al-Araimi, Ivan Conte, et al.
Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.
Human Mutation|November 30, 2020
New variants and in silico analyses in GRK1 associated Oguchi diseaseJames A Poulter, Molly S C Gravett, Rachel L Taylor, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvementSiying Lin, Francesca Cancellieri, Yexuan Cao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Pageof 34