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Frontiers in Genetics|March 7, 2022
Statistical Approach of the Role of the Conserved CSB-PiggyBac Transposase Fusion Protein (CSB-PGBD3) in Genotype-Phenotype Correlation in Cockayne Syndrome Type BRayanne Damaj-Fourcade, Nicolas Meyer, Cathy Obringer, et al.
Gene|October 15, 2023
Functional analysis of novel variants identified in cis in the PCCB gene in a patient with propionic acidemiaAinhoa Martínez-Pizarro, Nadège Calmels, Audrey Schalk, et al.
European Journal of Human Genetics : EJHG|February 10, 2018
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndromeAudrey Schalk, Géraldine Greff, Nathalie Drouot, et al.
BMC Neurology|August 26, 2009
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screenNadège Calmels, Hervé Seznec, Pascal Villa, et al.
Plos One|July 25, 2009
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxiaNadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, et al.
European Journal of Medical Genetics|January 11, 2019
Renal disease in Cockayne syndromeAmélie Stern-Delfils, Marie-Aude Spitz, Myriam Durand, et al.
Forensic Science International. Genetics|October 22, 2025
Genetic testing after sudden death with negative ancillary investigations: A French prospective study with multidisciplinary collaborationJulien Osouf, Audrey Schalk, Elise Schaefer, et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|December 3, 2014
Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndromeCyril Gitiaux, Nathalie Blin-Rochemaure, Marie Hully, et al.
Orphanet Journal of Rare Diseases|March 6, 2022
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutationsAsma Chikhaoui, Ichraf Kraoua, Nadège Calmels, et al.
Forensic Science International. Genetics|March 22, 2024
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigationsLila Krebs-Drouot, Audrey Schalk, Elise Schaefer, et al.
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