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Eric A Pierce

Showing results (91-100 of 132) with videos related to

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Investigative Ophthalmology & Visual Science|September 24, 2010
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencingSara J Bowne, Lori S Sullivan, Daniel C Koboldt, et al.
Investigative Ophthalmology & Visual Science|October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR GeneRola Ba-Abbad, Monique Leys, Xinjing Wang, 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.
The New England Journal of Medicine|May 6, 2024
Gene Editing for <i>CEP290</i>-Associated Retinal DegenerationEric A Pierce, Tomas S Aleman, Kanishka T Jayasundera, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
American Journal of Human Genetics|September 2, 2017
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative VitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, 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|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.
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.
Pageof 14

Showing results (91-100 of 132) with videos related to

Sort By:
Pageof 14
Investigative Ophthalmology & Visual Science|September 24, 2010
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencingSara J Bowne, Lori S Sullivan, Daniel C Koboldt, et al.
Investigative Ophthalmology & Visual Science|October 23, 2018
Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR GeneRola Ba-Abbad, Monique Leys, Xinjing Wang, 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.
The New England Journal of Medicine|May 6, 2024
Gene Editing for <i>CEP290</i>-Associated Retinal DegenerationEric A Pierce, Tomas S Aleman, Kanishka T Jayasundera, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, et al.
American Journal of Human Genetics|September 2, 2017
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative VitreoretinopathyJames A Poulter, Manir Ali, David F Gilmour, 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|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.
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.
Pageof 14