Lista de obras - Lisa Roberts - Dominio Público Uruguay

A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.

artículo científico publicado en 2015

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.

artículo científico publicado en 2014

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

artículo científico publicado en 2003

Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.

artículo científico publicado en 2003

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

artículo científico publicado en 2004

Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.

artículo científico publicado en 2009

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline

artículo científico publicado en 2020

Direct-to-consumer genetic testing: to test or not to test, that is the question

artículo científico publicado en 2013

Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.

artículo científico

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa

scientific article published on 01 July 2000

Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?

artículo científico publicado en 2008

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

artículo científico publicado en 2016

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B

artículo científico publicado en 2020

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

artículo científico publicado en 2013

Stargardt disease: towards developing a model to predict phenotype.

artículo científico publicado en 2013

Stargardt disease: towards developing a model to predict phenotype.

artículo científico publicado en 2013

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

artículo científico publicado en 2020

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans.

artículo científico publicado en 2013

Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics

artículo científico publicado en 2019

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

artículo científico publicado en 2017

Lista de obras de Lisa Roberts

A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora.

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.

A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.

Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications.

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

Clinical utility of the ABCR400 microarray: basing a genetic service on a commercial gene chip.

De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline

Direct-to-consumer genetic testing: to test or not to test, that is the question

Inherited retinal disorders in South Africa and the clinical impact of evolving technologies.

Low frequency of rhodopsin mutations in South African patients with autosomal dominant retinitis pigmentosa

Management of a South African family with retinitis pigmentosa-should potential therapy influence translational research protocols?

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

Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

Stargardt disease: towards developing a model to predict phenotype.

Stargardt disease: towards developing a model to predict phenotype.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans.

Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.