List of works - Lisa Roberts

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in August 2003

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

scientific article

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

scientific article

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

scientific article published on 15 July 2020

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

scientific article

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

scientific article published on 25 May 2016

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?

scientific article published on March 2008

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

scientific article

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

scientific article published on 21 August 2020

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

scientific article

Stargardt disease: towards developing a model to predict phenotype.

scientific article published on 22 May 2013

Stargardt disease: towards developing a model to predict phenotype.

scientific article published on 19 September 2013

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

scientific article published on 05 October 2020

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

scientific article published in October 2013

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

scientific article published on 01 January 2019

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

scientific article

List of works by 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.