CNRGH
Gabrielle Rudolf et al.
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
European Journal of Paediatric Neurology 2020, vol. 27
doi: 10.1016/j.ejpn.2020.05.003
Réjane Troudet et al.
Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses
Neuropsychopharmacology 2020, vol. 45, issue 10
doi: 10.1038/s41386-020-0703-2
A. Reghan Foley et al.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
Annals of Neurology 2020, vol. 88, issue 2
doi: 10.1002/ana.25772
M. Cerino et al.
Novel CAPN3 variant associated with an autosomal dominant calpainopathy
Neuropathology and Applied Neurobiology 2020, vol. 46, issue 6
doi: 10.1111/nan.12624
Martin Chevarin et al.
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Journal of Medical Genetics 2020, vol. 57, issue 7
doi: 10.1136/jmedgenet-2019-106425
Luca Kleineidam et al.
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment
Acta Neuropathologica 2020, vol. 139, issue 6
doi: 10.1007/s00401-020-02138-6
Jean-Sébastien Hulot et al.
Routine CYP2C19 Genotyping to Adjust Thienopyridine Treatment After Primary PCI for STEMI
JACC: Cardiovascular Interventions 2020, vol. 13, issue 5
doi: 10.1016/j.jcin.2020.01.219
Thomas Husson et al.
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Translational Psychiatry 2020, vol. 10, issue 1
doi: 10.1038/s41398-020-0760-7
Kévin Uguen et al.
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization
Molecular Genetics & Genomic Medicine 2020, vol. 8, issue 3
doi: 10.1002/mgg3.1114
Gian-Andri Thun et al.
High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls
Scientific Reports 2019, vol. 9, issue 1
doi: 10.1038/s41598-019-56618-1