Lista de obras -

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

artículo científico publicado en 2018

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

artículo científico publicado en 2020

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

artículo científico publicado en 2017

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

artículo científico publicado en 2017

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

artículo científico publicado en 2017

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2017

Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

artículo científico publicado en 2020

Clinical and genetic findings in CTNNA1-associated macular pattern dystrophy

artículo científico publicado en 2020

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

artículo científico publicado en 2020

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

artículo científico publicado en 2016

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

artículo científico publicado en 2017

Delineating the expanding phenotype associated with SCAPER gene mutation

artículo científico publicado en 2019

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

artículo científico publicado en 2017

Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiological and genetic findings in a retrospective case series of 56 patients

scientific article published on 14 July 2020

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants

artículo científico publicado en 2020

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

scientific article published on 31 August 2020

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

artículo científico publicado en 2016

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

artículo científico publicado en 2015

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

artículo científico publicado en 2016

Ocular genetics in the genomics age

artículo científico publicado en 2020

RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association

artículo científico publicado en 2020

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

artículo científico publicado en 2016

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

artículo científico publicado en 2017

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

artículo científico publicado en 2019

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

artículo científico publicado en 2016

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

artículo científico publicado en 2022

Lista de obras de

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

Clinical and genetic findings in CTNNA1-associated macular pattern dystrophy

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

Delineating the expanding phenotype associated with SCAPER gene mutation

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiological and genetic findings in a retrospective case series of 56 patients

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Ocular genetics in the genomics age

RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression