S. Mechaussier

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

J. Sahel, N. Boddaert, S. Lyonnet, 2017, American journal of human genetics.

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

J. Sahel, M. Polak, N. Boddaert, 2020, American journal of human genetics.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

K. Heimdal, E. Jabs, H. Omran, 2022, medRxiv.

Heimler Syndrome.

A. Bloch-Zupan, H. Dollfus, N. Loundon, 2020, Advances in experimental medicine and biology.

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

I. Perrault, J. Kaplan, J. Rozet, 2019, Advances in Experimental Medicine and Biology.

Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies

C. Petit, N. Michalski, A. Mallet, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

A. Fulton, E. Jabs, H. Omran, 2024, Science.