CNRGH
Ruhina S Laskar et al.
Sexual dimorphism in cancer: insights from transcriptional signatures in kidney tissue and renal cell carcinoma
Human Molecular Genetics 2021, vol. 30, issue 5
doi: 10.1093/hmg/ddab031
Ozvan Bocher et al.
Extension of SKAT to multi-category phenotypes through a geometrical interpretation
European Journal of Human Genetics 2021 vol.29
doi: 10.1038/s41431-020-00792-8
Xavière Lornage et al.
Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy
neurogenetics 2021, vol. 22, issue 1
doi: 10.1007/s10048-020-00632-3
Xavière Lornage et al.
Asymmetric muscle weakness due to ACTA1 mosaic mutations
Neurology 2020, vol. 95, issue 24
doi: 10.1212/wnl.0000000000010947
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