Audrey Schalk

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome

Olivier Tassy, P. Pennamen, C. Rooryck, 2022, American journal of medical genetics. Part A.

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

H. Dollfus, Tor Solli-Nowlan, T. Guignard, 2021, Nucleic Acids Res..

Recessive NUP54 Variants Underlie Early‐Onset Dystonia with Striatal Lesions

H. Prokisch, J. Winkelmann, V. Mall, 2022, Annals of neurology.

Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

T. Léveillard, J. Sahel, I. Audo, 2021, International journal of molecular sciences.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia

N. Drouot, A. Méneret, T. Wirth, 2024, Movement disorders : official journal of the Movement Disorder Society.

Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigations.

E. Schaefer, Audrey Schalk, M. A. Warde, 2024, Forensic science international. Genetics.