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Eric A Pierce

Showing results (71-80 of 132) with videos related to

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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.
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.
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.
RNA Biology|March 8, 2016
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionMarni J Falk, Xiaowu Gai, Megumi Shigematsu, 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.
Investigative Ophthalmology & Visual Science|January 8, 2011
Generation of Cre transgenic mice with postnatal RPE-specific ocular expressionJared Iacovelli, Chen Zhao, Natalie Wolkow, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 18, 2002
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) geneJiangang Gao, Kyeongmi Cheon, Steven Nusinowitz, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerationsKinga M Bujakowska, Rosario Fernandez-Godino, Emily Place, et al.
Pageof 14

Showing results (71-80 of 132) with videos related to

Sort By:
Pageof 14
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.
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.
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.
RNA Biology|March 8, 2016
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regressionMarni J Falk, Xiaowu Gai, Megumi Shigematsu, 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.
Investigative Ophthalmology & Visual Science|January 8, 2011
Generation of Cre transgenic mice with postnatal RPE-specific ocular expressionJared Iacovelli, Chen Zhao, Natalie Wolkow, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 18, 2002
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) geneJiangang Gao, Kyeongmi Cheon, Steven Nusinowitz, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 14, 2016
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerationsKinga M Bujakowska, Rosario Fernandez-Godino, Emily Place, et al.
Pageof 14