Lisa J. Roberts

University Of Cape Town
Cape Town, WC, South Africa

Last Updated: 09/26/2026

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Found 24 publications

Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.

Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.

Journal: BMC cancer
Published: August 28, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics
Published: June 02, 2025

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Journal: Investigative ophthalmology & visual science
Published: February 21, 2025

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025

Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

Journal: Molecular genetics & genomic medicine
Published: June 25, 2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Journal: Biomolecules
Published: January 29, 2024

Precision ophthalmology: a call for Africa not to be left in the dark.

Precision ophthalmology: a call for Africa not to be left in the dark.

Journal: Gene therapy
Published: October 17, 2023

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Journal: JAMA ophthalmology
Published: August 21, 2020

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

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

Journal: American journal of human genetics
Published: July 25, 2020

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.

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.

Journal: Genes
Published: June 11, 2020

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

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

Journal: Human mutation
Published: March 24, 2020

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

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

Journal: Advances in experimental medicine and biology
Published: December 30, 2019
Showing 1-12 of 24

Last Updated: 09/26/2026