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ARVO Annual Meeting Abstract July 2019

Development of knock in (KI) mouse models of rhodopsin retinitis pigmentosa

Kelly Ziaka; Kwan-Leong Hau; Dimitra Athanasiou; Rosellina Guarascio; Mònica Aguilà; James Bellingham; Smriti A. Agrawal; Yumei Li; Rui Chen; Michael E Cheetham

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):441. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

A non-human primate model of congenital heritable cataracts

Sara M Thomasy; Rui Chen; Laura Garzel; Katherine J. Olstad; Jun Wang; Soohyun Kim; Yumei Li; Muthuswamy Raveendran; Brooke L. Gates; J. Timothy Stout; Jeffrey Roberts; Jeffrey Rogers; Ala Moshiri

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):1113. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Investigating the role of Cwc27, a splicing factor, in retinal degeneration

Renae Elaine Bertrand; Jun Wang; Jiyang Cai; Yan Chen; Yumei Li; Keqing Wang; Chinthana Thangavel; Kaitlyn Xiong; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4923. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2019

Single cell RNA-Seq to elucidate the mechanism of photoreceptor degeneration heterogeneity in retinal dystrophy

Rui Chen; Rachayata Dharmat; sangbae Kim; Yumei Li

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):4209. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Single cell RNA-Seq to elucidate the mechanism of delayed cell death in retinal dystrophy.

Rachayata Dharmat; Sangbae Kim; Yumei Li; Aiden Eblimit; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):1009. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Next Generation Sequencing in Pigmented Paravenous Retinochoroidal Atrophy

Huber Martins Vasconcelos; Amanda Mitchell; Florin Gregorian; Pei-Wen Chiang; Rui Chen; Yumei Li; Richard G Weleber; Mark E Pennesi; Paul Yang

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2339. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

An integrative approach to identify transcript isoforms essential for retina function

Jun Wang; Rachayata Dharmat; Yumei Li; Leah Owen; Margaret M DeAngelis; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):2350. doi: https://doi.org/

ARVO Annual Meeting Abstract July 2018

Identifying Novel Genetic Loci associated with Primary Open-Angle Glaucoma

Sangbea Kim; Zhihua Qi; Yuhong Chen; Yumei Li; Benjamin Jay Jay Frankfort; Xing-Huai Sun; Jessica Cooke Bailey; Janey L Wiggs; Yongtao Guan; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5142. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Validating splice altering ‘variants of uncertain significance’ in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

Justin Branch; Zachary Soens; Yumei Li; Keqing wang; mingchu xu; David G Birch; Fernanda Belga Ottoni Porto; Juliana M F Sallum; Peiquan Zhao; Ruifang Sui; Robert K Koenekoop; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):5582. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

Photoreceptor-specific transition zone (PSTZ), a novel sub-region of the connecting cilium (CC), is maintained by retinal ciliopathy protein SPATA7.

Rachayata Dharmat; Aiden Eblimit; Yumei Li; Michael Robichaux; Zhixian Zhang; Feng He; Antrix Jain; Graeme Mardon; Sung Yun Jung; Theodore G Wensel; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2485. doi: https://doi.org/

ARVO Annual Meeting Abstract June 2017

An ancestral mutation in SAG (S-antigen visual arrestin-1) is a common cause of autosomal dominant retinitis pigmentosa in Hispanics

Lori S Sullivan; Sara J Bowne; Kaylie Webb-Jones; John R Heckenlively; Daniel C. Koboldt; Yumei Li; Rui Chen; Vsevolod Gurevich; David G Birch; Stephen P Daiger

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2763. doi: https://doi.org/

Biochemistry and Molecular Biology May 2017

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

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Lori S. Sullivan; Sara J. Bowne; Daniel C. Koboldt; Elizabeth L. Cadena; John R. Heckenlively; Kari E. Branham; Dianna H. Wheaton; Kaylie D. Jones; Richard S. Ruiz; Mark E. Pennesi; Paul Yang; David Davis-Boozer; Hope Northrup; Vsevold V. Gurevich; Rui Chen; Mingchu Xu; Yumei Li; David G. Birch; Stephen P. Daiger
TAGS: arrestin, family, genes, mutation, retinitis pigmentosa, hispanics or latinos
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2774-2784. doi: https://doi.org/10.1167/iovs.16-21341

Genetics May 2017

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration

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Rachayata Dharmat; Wei Liu; Zhongqi Ge; Zixi Sun; Lizhu Yang; Yumei Li; Keqing Wang; Kandace Thomas; Ruifang Sui; Rui Chen
TAGS: candidate disease gene, mutation, proteins, retinal degeneration, whole exome sequencing, zebrafish, ciliopathies, phenotype, proband, alleles
Invest. Ophthalmol. Vis. Sci.. 2017; 58(5):2483-2490. doi: https://doi.org/10.1167/iovs.16-19133

Includes: Supplemental Content

ARVO Annual Meeting Abstract September 2016

Mutations in Receptor Expression Enhancing Protein 6 (REEP6) Cause Early Onset RP in Humans.

Smriti Agrawal; Aiden Eblimit; Feng Wang; Mingchu Xu; Kerry Goetz; Yumei Li; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):6586. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Beyond the Exon: Variants in regulatory and non-coding regions play a functional role in the pathogenesis of inherited retinal disease

Evan Jones; Justin Branch; Ruifang Sui; Robert K Koenekoop; Fernanda Belga Ottoni Porto; Aleksandar Milosavljevic; Yumei Li; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):2062. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Comprehensive Molecular Diagnosis of a Large Chinese Patient Cohort With Autosomal Dominant Retinitis Pigmentosa

fei xu; Mingchu Xu; Zixi Sun; Zhongqi Ge; Hui Li; Yumei Li; Lizhu Yang; Hong Zhang; Fangtian Dong; Rui Chen; Ruifang Sui

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):3158. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

Next generation sequencing-based comprehensive molecular diagnosis of retinitis pigmentosa probands in Miami

Jennifer Verriotto; Qi Zhang; Mingchu Xu; Yumei Li; Hui Wang; Lin Gan; Rui Chen; Byron L Lam

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):129. doi: https://doi.org/

ARVO Annual Meeting Abstract September 2016

p.P347Q Rhodopsin Mutation is a Recurrent Founder Allele in Brazilian Individuals with Autosomal Dominant Retinitis Pigmentosa

Fernanda Belga Ottoni Porto; Evan M Jones; Isadora F G Sena; Shirley A M Sampaio; Milena C P S Souza; Zachry Soens; Yumei Li; Renata Simões; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):664. doi: https://doi.org/

Genetics June 2015

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

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Mingchu Xu; Violet Gelowani; Aiden Eblimit; Feng Wang; Marielle P. Young; Briana L. Sawyer; Li Zhao; Glen Jenkins; Donnell J. Creel; Keqing Wang; Zhongqi Ge; Hui Wang; Yumei Li; M. Elizabeth Hartnett; Rui Chen
TAGS: mutation, photoreceptors, tissue degeneration, proteins, genes, dideoxy chain termination dna sequencing, mice, reverse transcriptase polymerase chain reaction
Invest. Ophthalmol. Vis. Sci.. 2015; 56(6):3889-3895. doi: https://doi.org/10.1167/iovs.15-16778

ARVO Annual Meeting Abstract June 2015

Comprehensive molecular diagnosis of 70 representative Chinese Usher syndrome patients from 67 families: high rate of novel mutations in Chinese USH patients

Ruifang Sui; Fangtian Dong; Lichun Jiang; Xiaofang Liang; Eric Zaneveld; Yumei Li; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1245. doi: https://doi.org/

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Development of knock in (KI) mouse models of rhodopsin retinitis pigmentosa

A non-human primate model of congenital heritable cataracts

Investigating the role of Cwc27, a splicing factor, in retinal degeneration

Single cell RNA-Seq to elucidate the mechanism of photoreceptor degeneration heterogeneity in retinal dystrophy

Single cell RNA-Seq to elucidate the mechanism of delayed cell death in retinal dystrophy.

Next Generation Sequencing in Pigmented Paravenous Retinochoroidal Atrophy

An integrative approach to identify transcript isoforms essential for retina function

Identifying Novel Genetic Loci associated with Primary Open-Angle Glaucoma

Validating splice altering ‘variants of uncertain significance’ in genetically unsolved Leber congenital amaurosis patients using the RHCglo minigene

Photoreceptor-specific transition zone (PSTZ), a novel sub-region of the connecting cilium (CC), is maintained by retinal ciliopathy protein SPATA7.

An ancestral mutation in SAG (S-antigen visual arrestin-1) is a common cause of autosomal dominant retinitis pigmentosa in Hispanics

A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration

Mutations in Receptor Expression Enhancing Protein 6 (REEP6) Cause Early Onset RP in Humans.

Beyond the Exon: Variants in regulatory and non-coding regions play a functional role in the pathogenesis of inherited retinal disease

Comprehensive Molecular Diagnosis of a Large Chinese Patient Cohort With Autosomal Dominant Retinitis Pigmentosa

Next generation sequencing-based comprehensive molecular diagnosis of retinitis pigmentosa probands in Miami

p.P347Q Rhodopsin Mutation is a Recurrent Founder Allele in Brazilian Individuals with Autosomal Dominant Retinitis Pigmentosa

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement

Comprehensive molecular diagnosis of 70 representative Chinese Usher syndrome patients from 67 families: high rate of novel mutations in Chinese USH patients

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