Stefan Unger

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.

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.

P. Mill, Sophie Marion de Procé, M. Halachev, 2024, Pediatric pulmonology.

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia

Sophie Marion de Procé, P. Mill, M. Halachev, 2024, medRxiv.

Edinburgh Research Explorer Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia

Sophie Marion de Procé, P. Mill, Scott Partnership, 2022 .