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ARVO Annual Meeting Abstract June 2020

Ceramide synthase TLCD3B as a novel gene associated with human recessive cone-rod dystrophy and maculopathy

Rui Chen; Renae Elaine Bertrand; Jun Wang; Kaitlyn H. Xiong; Chinthana Thangavel; Xinye Qian; Rola Ba-Abbad; Renata Simoes; Shirley Aparecida Madureira Sampaio; Keren J. Carss; F. Lucy Raymond; Anthony G Robson; Yumei Li; Andrew R. Webster; Gavin Arno; Fernanda Belga Ottoni Porto

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):1953. doi:

ARVO Annual Meeting Abstract June 2020

Genetic Basis of Brazilian Achromatopsia Patients

Fernanda Belga Ottoni Porto; Shirley M Sampaio; Britta Baumann; Yumei Li; Renata Simoes; Stephen Tsang; Rui Chen; Susanne Kohl

Invest. Ophthalmol. Vis. Sci.. 2020; 61(7):4467. doi:

ARVO Annual Meeting Abstract July 2019

Retinal phenotypic characterization of a Brazilian cohort of patients with homozygous ABCA4 alleles

Fernanda Belga Ottoni Porto; Shirley AM Sampaio; Simões T Renata; Rui Chen; John (P-W) Chiang

Invest. Ophthalmol. Vis. Sci.. 2019; 60(9):408. doi:

ARVO Annual Meeting Abstract July 2018

Comprehensive molecular diagnosis of 118 Leber Congenital Amaurosis and Early Onset Severe Retinal Distrophy by targeted next generation sequencing

Fernanda Belga Ottoni Porto; Shirley Aparecida Madureira Sampaio; Evan Jones; Fernando Kok; Rui Chen; Renata Toscano Simoes

Invest. Ophthalmol. Vis. Sci.. 2018; 59(9):5419. doi:

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:

ARVO Annual Meeting Abstract June 2017

c.2991+1655A>G CEP290 intronic mutation is a recurrent founder allele in Brazilian Individuals with Leber Congenital Amaurosis

Fernanda Belga Ottoni Porto; Evan Jones; Renata Toscano Simões; Rui Chen; Justine Branch

Invest. Ophthalmol. Vis. Sci.. 2017; 58(8):2761. doi:

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:

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:

ARVO Annual Meeting Abstract June 2015

The mutation spectrum of a large Brazilian inherited retinal disease cohort

Fernanda Belga Ottoni Porto; Zachry Soens; Shirley Aparecida Madureira Sampaio; Igor Mendes Maia; Millena Carolina Pereira Silva Sousa; Yumei Li; Shan Xu; Katharina Schulze; Renata Toscano Simoes; Rui Chen

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2858. doi:

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