Fernanda Belga Ottoni Porto (Fernanda B O Porto)

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 5

Top Topics

End Stage Renal Disease

Ejection Fraction

Top Venues

Ophthalmic genetics

American journal of medical genetics. Part C, Seminars in medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Mariana Matioli da Palma, Molly Marra, Austin D Igelman, Cristy A Ku, Amanda Burr, Katherine Andersen, Lesley A Everett, Fernanda Belga Ottoni Porto, Juliana Maria Ferraz Sallum, Paul Yang, Mark E Pennesi
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy. Ophthalmic genetics (2023)
Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Geoffrey Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Catala, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R Heckenlively, Samuel G Jacobson, Kaylie D Jones, Herbert Jägle, Andreas R Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell, André M Vieira Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S Plomp, Thomy J L de Ravel, Charlotte M Reiff, Agnes B Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E Cumhur Sener, Paul A Sieving, Franco Stanzial, Elias I Traboulsi, Stephen H Tsang, Balázs Varsanyi, Richard G Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 43 (7) (2022)
Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, Fernanda Belga Ottoni Porto, Rosane Guazi Resende, Rubens Belfort
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. American journal of medical genetics. Part C, Seminars in medical genetics 184 (3) (2020)
Fabiana Louise Motta, Renan P Martin, Fernanda Belga Ottoni Porto, Elizabeth S Wohler, Rosane G Resende, Caio P Gomes, João B Pesquero, Juliana Maria Ferraz Sallum
Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy. Genes 11 (1) (2019)
Fernanda Belga Ottoni Porto, Evan M Jones, Justin Branch, Zachry T Soens, Igor Mendes Maia, Isadora F G Sena, Shirley A M Sampaio, Renata T Simões, Rui Chen
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. Genes 8 (12) (2017)