N. Le May

Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type B

N. Calmels, C. Obringer, V. Laugel, 2022, Frontiers in Genetics.

Diagnostic and severity scores for Cockayne syndrome

N. Calmels, C. Obringer, V. Laugel, 2021, Orphanet Journal of Rare Diseases.

Growth charts in Cockayne syndrome type 1 and type 2.

M. Kubota, P. Kang, S. Mohammed, 2020, European journal of medical genetics.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

R. Redon, A. Boland, J. Deleuze, 2023, International journal of molecular sciences.