CNRGH

Jean-Noël Hubert et al.
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma
Cancers 2021, vol. 13, issue 9
doi: 10.3390/cancers13092243

Jeremy Choin et al.
Genomic insights into population history and biological adaptation in Oceania
Nature 2021, vol. 592, issue 7855
doi: 10.1038/s41586-021-03236-5

Elena Gargaun et al.
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
Biomedicines 2021, vol. 9, issue 2
doi: 10.3390/biomedicines9020219

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