Catherine Faucon

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

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

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

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

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

S. Amselem, B. Crestani, B. Copin, 2016, American journal of human genetics.

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.

V. Drouin‐Garraud, A. Tassin, S. Amselem, 2020, American journal of human genetics.

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

M. Filoche, S. Amselem, A. Clément, 2019, Journal of Medical Genetics.