Lista de obras -

A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14.

artículo científico publicado en 2017

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

artículo científico publicado en 2015

A mega-analysis of expression quantitative trait loci in retinal tissue

artículo científico publicado en 2020

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

artículo científico publicado en 2016

Applications of Genomic Technologies in Retinal Degenerative Diseases

artículo científico publicado en 2019

Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration

artículo científico publicado en 2019

Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration

artículo científico publicado en 2017

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent

artículo científico publicado en 2019

Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration

artículo científico publicado en 2015

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

artículo científico

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

artículo científico publicado en 2013

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

artículo científico publicado en 2013

Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration

artículo científico publicado en 2016

Molecular Anatomy of the Developing Human Retina.

artículo científico publicado en 2017

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

artículo científico publicado en 2016

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research

artículo científico publicado en 2016

No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low versus High Zinc, or β-Carotene versus Lutein and Zeaxanthin on Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report

scientific article published on 12 June 2019

No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38

artículo científico publicado en 2014

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

artículo científico publicado en 2015

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

scientific article published on 02 January 2014

Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16

artículo científico publicado en 2018

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

artículo científico publicado en 2017

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

artículo científico publicado en 2014

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

scientific article published on 11 February 2019

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease

artículo científico publicado en 2015

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

artículo científico publicado en 2015

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel

artículo científico publicado en 2014

Lista de obras de

A Deep Phenotype Association Study Reveals Specific Phenotype Associations with Genetic Variants in Age-related Macular Degeneration: Age-Related Eye Disease Study 2 (AREDS2) Report No. 14.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

A mega-analysis of expression quantitative trait loci in retinal tissue

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

Applications of Genomic Technologies in Retinal Degenerative Diseases

Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration

Association of Rare Predicted Loss-of-Function Variants in Cellular Pathways with Sub-Phenotypes in Age-Related Macular Degeneration

Association of age-related macular degeneration with complement activation products, smoking, and single nucleotide polymorphisms in South Carolinians of European and African descent

Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression

Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Increased retinal mtDNA damage in the CFH variant associated with age-related macular degeneration

Molecular Anatomy of the Developing Human Retina.

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing

Next generation sequencing technology and genomewide data analysis: Perspectives for retinal research

No CFH or ARMS2 Interaction with Omega-3 Fatty Acids, Low versus High Zinc, or β-Carotene versus Lutein and Zeaxanthin on Progression of Age-Related Macular Degeneration in the Age-Related Eye Disease Study 2: Age-Related Eye Disease Study 2 Report

No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

Progression of Geographic Atrophy in Age-related Macular Degeneration: AREDS2 Report Number 16

REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Seven new loci associated with age-related macular degeneration

Vision from next generation sequencing: multi-dimensional genome-wide analysis for producing gene regulatory networks underlying retinal development, aging and disease

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel