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

Ataf Sabir

13PUBLICATIONS
287CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Sensory systemsNeurology and neuromuscular diseasesInfant and child healthMolecular targets
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (13)

Sort by Publication Date:
|Jun 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene <i>PSMC5</i> in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Oct 10, 2023
Growth reference charts for children with hypochondroplasia.

Moira S Cheung, Tim J Cole, Paul Arundel

Pageof 3

Frequent Collaborators

2 joint publications

Carmen Ayuso

2 joint publications

David G Birch

2 joint publications

Kim Rodenburg

2 joint publications

Sandro Banfi

2 joint publications

Suzanne E de Bruijn

2 joint publications

Manir Ali

2 joint publications

Beatrice Bocquet

2 joint publications

Mirella T S Barboni

2 joint publications

K Bailey Freund

2 joint publications

Lara K Holtes

Frequent Collaborators

2 joint publications

Carmen Ayuso

2 joint publications

David G Birch

2 joint publications

Kim Rodenburg

2 joint publications

Sandro Banfi