Fabiana L. Motta

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 34 publications

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Journal: Investigative ophthalmology & visual science

Published: November 13, 2025

Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.

Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.

Journal: Experimental biology and medicine (Maywood, N.J.)

Published: November 13, 2025

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.

Journal: Genes

Published: December 05, 2024

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene.

Journal: Nature machine intelligence

Published: September 09, 2024

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

The cost of genetic diagnosis of suspected hereditary pediatric cataracts with whole-exome sequencing from a middle-income country perspective: a mixed costing analysis.

Journal: Journal of community genetics

Published: September 25, 2023

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Journal: International journal of molecular sciences

Published: June 27, 2023

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Journal: Genes

Published: May 02, 2023

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Journal: Human molecular genetics

Published: June 20, 2022

Macular dystrophies associated with Stargardt-like phenotypes.

Macular dystrophies associated with Stargardt-like phenotypes.

Journal: Arquivos brasileiros de oftalmologia

Published: October 28, 2021

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.

A rare canonical splice-site variant in VPS13B causes attenuated Cohen syndrome.

Journal: Ophthalmic genetics

Published: August 24, 2021

Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.

Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis.

Journal: Ophthalmic genetics

Published: June 23, 2021

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Journal: Genes

Published: May 25, 2021

Showing 1-12 of 34

Last Updated: 09/26/2026