CNRGH

Olivier Quenez et al.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
European Journal of Human Genetics 2021 vol.29
doi: 10.1038/s41431-020-0672-2

Ariane Kröll‐Hermi et al.
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
EMBO Molecular Medicine 2020, vol. 12, issue 7
doi: 10.15252/emmm.201911861

Nicole Pedro et al.
Papuan mitochondrial genomes and the settlement of Sahul
Journal of Human Genetics 2020, vol. 65, issue 10
doi: 10.1038/s10038-020-0781-3

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