Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Lisa Roberts

7PUBLICATIONS

186CO-AUTHORS

Sensory systemsNeurology and neuromuscular diseasesNeurogeneticsGene mappingAvionics

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (7)

Sort by Publication Date:

|Jan 09, 2026

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 20, 2025

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

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Dec 16, 2024

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

Nicole Midgley, George Rebello, Lara K Holtes

|Mar 28, 2024

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

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi

|Mar 23, 2024

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

Lisa Roberts

|Aug 23, 2020

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

Lisa Roberts, Stephanie Julius, Shrinav Dawlat

Pageof 2

Frequent Collaborators

4 joint publications

Raj Ramesar

3 joint publications

Sandro Banfi

3 joint publications

George Rebello

3 joint publications

Dror Sharon

3 joint publications

Lubica Dudakova

3 joint publications

Petra Liskova

3 joint publications

Marie Vajter

3 joint publications

Carmen Ayuso

3 joint publications

Chris F Inglehearn

3 joint publications

Monika Ołdak

Frequent Collaborators

4 joint publications

Raj Ramesar

3 joint publications

Sandro Banfi

3 joint publications

George Rebello

3 joint publications

Dror Sharon

Top Related Videos

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Published on : Dec 22, 2014

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on : Dec 12, 2014

<em>Ex Vivo</em> OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

<em>Ex Vivo</em> OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on : May 26, 2023

See more related videos

Top Related Videos

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Published on : Dec 22, 2014

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Large-Scale Purification of Porcine or Bovine Photoreceptor Outer Segments for Phagocytosis Assays on Retinal Pigment Epithelial Cells

Published on : Dec 12, 2014

<em>Ex Vivo</em> OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

<em>Ex Vivo</em> OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on : May 26, 2023

See more related videos