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

Alexandre Benmerah

7PUBLICATIONS

25CO-AUTHORS

Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Molecular imaging (incl. electron microscopy and neutron diffraction)Cellular nervous system

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (7)

Sort by Publication Date:

|Dec 04, 2025

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.

Friederike Petzold, Cécile Jeanpierre, Xiaoyi Chen

|Jun 06, 2023

Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidney cell type consensus signatures.

Marceau Quatredeniers, Alice S Serafin, Alexandre Benmerah

|Jun 24, 2022

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen

|Apr 28, 2022

Agonists of prostaglandin E<sub>2</sub> receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Hugo Garcia, Alice S Serafin, Flora Silbermann

|Jan 23, 2021

EFA6A, an exchange factor for Arf6, regulates early steps in ciliogenesis.

Mariagrazia Partisani, Carole L Baron, Rania Ghossoub

|Jun 10, 2019

Cilia in hereditary cerebral anomalies.

Sophie Thomas, Lucile Boutaud, Madeline Louise Reilly

Pageof 2

Frequent Collaborators

2 joint publications

Alice S Serafin

2 joint publications

Corinne Antignac

2 joint publications

Sophie Saunier

1 joint publications

Sophie Thomas

1 joint publications

Michel Franco

1 joint publications

Esther Porée

1 joint publications

Amandine Viau

1 joint publications

Stéphanie Roy

1 joint publications

Bérangère Deleglise

1 joint publications

Fabienne Jabot-Hanin

Frequent Collaborators

2 joint publications

Alice S Serafin

2 joint publications

Corinne Antignac

2 joint publications

Sophie Saunier

1 joint publications

Sophie Thomas

Top Related Videos

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

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

Published on : Apr 04, 2018

Nuclei Isolation from Adult Mouse Kidney for Single-Nucleus RNA-Sequencing

Nuclei Isolation from Adult Mouse Kidney for Single-Nucleus RNA-Sequencing

Published on : Sep 20, 2021

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos

Top Related Videos

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

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

Published on : Apr 04, 2018

Nuclei Isolation from Adult Mouse Kidney for Single-Nucleus RNA-Sequencing

Nuclei Isolation from Adult Mouse Kidney for Single-Nucleus RNA-Sequencing

Published on : Sep 20, 2021

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on : Aug 15, 2019

See more related videos