Jove
Visualize
Contact Us
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

Cindy Colson

1PUBLICATIONS
8CO-AUTHORS
Molecular targets
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (1)

Sort by Publication Date:
|Apr 05, 2026
Compound heterozygous structural variants resulting in CNTNAP2 biallelic loss-of-function: rare mechanisms unveiled by genome sequencing.

Jade Fauqueux, Roseline Caumes, Cindy Colson

Pageof 1

Frequent Collaborators

1 joint publications

Jade Fauqueux

1 joint publications

Roseline Caumes

1 joint publications

Pierre Cleuziou

1 joint publications

Caroline Thuillier

1 joint publications

Pauline Planté-Bordeneuve

1 joint publications

Marine Tessarech

1 joint publications

Jamal Ghoumid

1 joint publications

Thomas Smol

Frequent Collaborators

1 joint publications

Jade Fauqueux

1 joint publications

Roseline Caumes

1 joint publications

Pierre Cleuziou

1 joint publications

Caroline Thuillier

Top 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 : Apr 04, 2018

35.0K
See more related videos

Top 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 : Apr 04, 2018

35.0K
See more related videos