F
Fernanda Belga Ottoni Porto
Researcher at Children's Hospital of Philadelphia
Publications - 22
Citations - 394
Fernanda Belga Ottoni Porto is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Medicine & Population. The author has an hindex of 8, co-authored 16 publications receiving 318 citations. Previous affiliations of Fernanda Belga Ottoni Porto include Universidade Federal de Minas Gerais & French Institute of Health and Medical Research.
Papers
More filters
Journal ArticleDOI
Rod–Cone Interactions:: Developmental and Clinical Significance
Saddek Mohand-Said,David Hicks,Thierry Léveillard,Serge Picaud,Fernanda Belga Ottoni Porto,José Sahel +5 more
TL;DR: In this paper, the relationship between rod degeneration and cone death was investigated and it was shown that rods are necessary for continued cone survival and that rod replacement by transplantation and/or neuroprotection by trophic factors or alternative pharmacological means appear as promising approaches for limiting secondary cone loss in currently untreatable blinding conditions.
Journal ArticleDOI
Ocular manifestations in the inherited DNA repair disorders.
Hélène Dollfus,Fernanda Belga Ottoni Porto,Patrick Caussade,Claude Speeg-Schatz,José Sahel,Edouard Grosshans,Jacques Flament,Alain Sarasin +7 more
TL;DR: This review focuses on the DNA repair pathways, the general and ocular features of the related syndromes, the laboratory tests useful for diagnosis, and the general processes implied with DNA repair (ultraviolet sensitivity, carcinogenesis, apoptosis, oxydative stress, and premature aging).
Journal ArticleDOI
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2)
Fernanda Belga Ottoni Porto,Isabelle Perrault,David Hicks,Jean-Michel Rozet,Noëlle Hanoteau,Sylvain Hanein,Josseline Kaplan,José-Alain Sahel +7 more
TL;DR: Existing animal models for LCA2 (RPE65‐/‐ null mice 3 and naturally occurring RPE65-/‐ Briard dogs 4 ) exhibit near normal retinal histology at birth, although no recordable photofunction can be detected.
Journal ArticleDOI
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance
Zachry T. Soens,Justin Branch,Shijing Wu,Zhisheng Yuan,Yumei Li,Hui Li,Keqing Wang,Mingchu Xu,Lavan Rajan,Fabiana Louise Motta,Renata T Simões,Irma Lopez-Solache,Radwan Ajlan,David G. Birch,Peiquan Zhao,Fernanda Belga Ottoni Porto,Juliana Maria Ferraz Sallum,Robert K. Koenekoop,Ruifang Sui,Rui Chen +19 more
TL;DR: Starting with 745 IRD patients lacking a confident molecular diagnosis, 23 VUS were validated as splicing variants that likely explain disease in 26 patients and in silico score cutoffs were optimized to guide future variant interpretation.
Journal ArticleDOI
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Fernanda Belga Ottoni Porto,Evan M Jones,Justin Branch,Zachry T. Soens,Igor Mendes Maia,Isadora F. G. Sena,Shirley Aparecida Madureira Sampaio,Renata T Simões,Rui Chen +8 more
TL;DR: Using the gene panel that targets 300 genes that are known to cause retinal disease, including 24 genes reported to cause LCA, 43 unrelated probands with Brazilian ancestry were sequenced and 42 unique variants were identified and assigned a molecular diagnosis to 30/43 (70%) Brazilian patients.