Related Experiment Video

Updated: Apr 19, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K

Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy

Sarah Hull1,2, Gavin Arno1,2, Vincent Plagnol3

  • 1Inherited Eye Diseases, UCL Institute of Ophthalmology, London, UK.

Acta Ophthalmologica
|December 30, 2014
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

7.5K

Related Experiment Videos

Last Updated: Apr 19, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.2K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.1K
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
05:16

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

7.5K

Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

5.0K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
5.0K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

2.9K
2.9K

Articles linked to this work by shared authors, journal, and citation graph.

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

HGG advances·2026

XXYLT1 and Mendelian Retinal Dystrophy.

JAMA ophthalmology·2026

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Genome medicine·2026

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy.

Molecular therapy. Nucleic acids·2026

Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism.

NPJ genomic medicine·2026

Genetic and Phenotypic Characterization of a Large Cohort of Patients with BBS1-Retinopathy.

Ophthalmology science·2026

Evaluation of spatial distribution of initial marking strategy among inexperienced graders in diabetic retinopathy: A retrospective cross-sectional analysis.

Acta ophthalmologica·2026

Concurrent macular neovascularization in shallow irregular retinal pigment epithelium elevation phenotypes in age-related macular degeneration and chronic central serous chorioretinopathy: A systematic review and meta-analysis.

Acta ophthalmologica·2026

Grading-labour cost analysis of AI-assisted versus human-only diabetic retinopathy screening in two Danish healthcare settings.

Acta ophthalmologica·2026

Optic nerve head blood flow autoregulation during isometric exercise in primary open-angle glaucoma assessed by laser speckle flowgraphy.

Acta ophthalmologica·2026

Anterior scleral thickness in eyes with central serous chorioretinopathy: A systematic review and meta-analysis.

Acta ophthalmologica·2026

Intraluminal stent removal after Paul glaucoma implant surgery: Intraocular pressure reduction and safety outcomes.

Acta ophthalmologica·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us