Luke Mansard

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2022, bioRxiv.

Identification of the First Single GSDME Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss

M. Koenig, Julie Bianchi, A. Roux, 2022, Diagnostics.

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

D. Goudie, T. Pippucci, R. Newbury-Ecob, 2020, Brain : a journal of neurology.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2021, bioRxiv.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

B. Gilbert-Dussardier, Julie Bianchi, M. Claustres, 2021, International journal of molecular sciences.

When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report

A. Roux, C. Blanchet, C. Vaché, 2021, Diagnostics.

Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss

M. Cossée, A. Roux, G. Lina-Granade, 2023, European Journal of Human Genetics.