Fernanda Belga Ottoni Porto

5PUBLICATIONS
39CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Infant and child healthGene mapping
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Publications (5)

|Aug 18, 2023
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.

Mariana Matioli da Palma, Molly Marra, Austin D Igelman

|Mar 25, 2022
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

Maria Solaki, Britta Baumann, Peggy Reuter

|Sep 01, 2020
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno

|Dec 28, 2019
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.

Fabiana L Motta, Renan P Martin, Fernanda B O Porto

|Nov 30, 2017
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

Fernanda B O Porto, Evan M Jones, Justin Branch

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Frequent Collaborators

3 joint publications

Juliana Maria Ferraz Sallum

2 joint publications

Fabiana Louise Motta

1 joint publications

Elizabeth S Wohler

1 joint publications

Mariana Matioli da Palma