CNRGH

Alexandre How-Kit et al.
The CEPH aging cohort and biobank: a valuable collection of biological samples from exceptionally long-lived French individuals and their offspring for longevity studies
GeroScience 2023, vol. 46, issue 2
doi: 10.1007/s11357-023-01037-4

Laura vanden Brande et al.
Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation
Neuropathology and Applied Neurobiology 2023, vol. 50, issue 1
doi: 10.1111/nan.12952

Jill Pilet et al.
Preneoplastic liver colonization by 11p15.5 altered mosaic cells in young children with hepatoblastoma
Nature Communications 2023, vol. 14, issue 1
doi: 10.1038/s41467-023-42418-9

Thomas Husson et al.
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
European Journal of Human Genetics 2023
doi: 10.1038/s41431-023-01474-x

Alex Clavería-Cabello et al.
Identification and experimental validation of druggable epigenetic targets in hepatoblastoma
Journal of Hepatology 2023, vol. 79, issue 4
doi: 10.1016/j.jhep.2023.05.031

Adella Karam et al.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
International Journal of Molecular Sciences 2023, vol. 24, issue 10
doi: 10.3390/ijms24108729

Ricardo Cortez Cardoso Penha et al.
Common genetic variations in telomere length genes and lung cancer: a Mendelian randomisation study and its novel application in lung tumour transcriptome
eLife 2023, vol. 12
doi: 10.7554/elife.83118

François Lecoquierre et al.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Human Genetics 2023, vol. 142, issue 6
doi: 10.1007/s00439-023-02553-1

Lise Mangiante et al.
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
Nature Genetics 2023
doi: 10.1038/s41588-023-01321-1

Estelle Colin et al.
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Frontiers in Cell and Developmental Biology 2023, vol. 11
doi: 10.3389/fcell.2023.1021920