Fabiana Louise Motta (Fabiana L Motta)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 12

Top Venues

Genes

Ophthalmic genetics

Human mutation

International journal of molecular sciences

Universidade Federal de Sao Paulo Escola Paulista de Medicina (PHD)

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

Education History

Universidade Federal de Sao Paulo Escola Paulista de Medicina

Brazil

PHD :: Ophthalmology

Universidade Federal de Sao Paulo Escola Paulista de Medicina

Brazil

MSC :: Molecular Biology

Publications

Olivia Araujo Zin, Luiza M Neves, Daniela P Cunha, Fabiana Louise Motta, Bruna N S Agonigi, Dafne D G Horovitz, Daltro C Almeida, Jocieli Malacarne, Ana Paula S Rodrigues, Adriana B Carvalho, Cinthia A Rivello, Rita Espariz, Andrea Araujo Zin, Juliana Maria Ferraz Sallum, Zilton Farias Meira de Vasconcelos
Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families. International journal of molecular sciences 24 (15) (2023)
Rebeca A S Amaral, Fabiana Louise Motta, Olivia Araujo Zin, Mariana M da Palma, Gabriela D Rodrigues, Juliana Maria Ferraz Sallum
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. Genes 14 (6) (2023)
Rebeca A S Amaral, Fabiana Louise Motta, Olivia Araujo Zin, Mariana M da Palma, Gabriela D Rodrigues, Juliana Maria Ferraz Sallum
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. Genes 14 (6) (2023)
Rebeca A S Amaral, Fabiana Louise Motta, Olivia Araujo Zin, Mariana M da Palma, Gabriela D Rodrigues, Juliana Maria Ferraz Sallum
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia. Genes 14 (6) (2023)
Olivia A Zin, Luiza M Neves, Fabiana Louise Motta, Dafne D G Horovitz, Leticia Guida, Leonardo Henrique Ferreira Gomes, Daniela P Cunha, Ana Paula S Rodrigues, Andrea A Zin, Juliana Maria Ferraz Sallum, Zilton Farias Meira de Vasconcelos
Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia. Genes 12 (7) (2021)
Mariana Matioli da Palma, Fabiana Louise Motta, Mariana Vallim Salles, Caio Henrique Marques Texeira, André V Gomes, Ricardo-Pedro Casaroli-Marano, Juliana Maria Ferraz Sallum
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy. Genes 12 (5) (2021)
Malena Daich Varela, Fabiana Louise Motta, Andrew R Webster, Gavin Arno
A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome. Ophthalmic genetics (2021)
Fabiana Louise Motta, Rafael Filippelli-Silva, Joao Paulo Kitajima, Denise A Batista, Elizabeth S Wohler, Nara L Sobreira, Renan Paulo Martin, Juliana Maria Ferraz Sallum
Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis. Ophthalmic genetics 42 (5) (2021)
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)
Mariana Matioli da Palma, Fabiana Louise Motta, Guilherme Eiichi Da Silva Takitani, Mariana Vallim Salles, Luiz Henrique Lima, Juliana Maria Ferraz Sallum
TUBGCP4 - associated microcephaly and chorioretinopathy. Ophthalmic genetics 41 (2) (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)
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 B Porto, Juliana Sallum, Robert K Koenekoop, Ruifang Sui, Rui Chen
Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Human mutation 38 (11) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Fabiana Louise Motta (Fabiana L Motta)