CNRGH

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

Constance Xhaard et al.
Shared Heritability of Blood Pressure and Pulse Wave Velocity: Insights From the STANISLAS Cohort
Hypertension 2023, vol. 80, issue 7
doi: 10.1161/hypertensionaha.122.20740

Gaëlle Munsch et al.
Association of ABO blood groups with venous thrombosis recurrence in middle-aged patients: insights from a weighted Cox analysis dedicated to ambispective design
BMC Medical Research Methodology 2023, vol. 23, issue 1
doi: 10.1186/s12874-023-01915-7

AL Soilly et al.
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
BMC Health Services Research 2023, vol. 23, issue 1
doi: 10.1186/s12913-023-09373-z

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

Basile Jumentier et al.
High-Dimensional Mediation Analysis: A New Method Applied to Maternal Smoking, Placental DNA Methylation, and Birth Outcomes
Environmental Health Perspectives 2023, vol. 131, issue 4
doi: 10.1289/ehp11559

M

Daniela Matuozzo et al.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine 2023, vol. 15, issue 1
doi: 10.1186/s13073-023-01173-8

Miriam Riquelme-Perez et al.
DEVEA: an interactive shiny application for Differential Expression analysis, data Visualization and Enrichment Analysis of transcriptomics data
F1000Research 2023, vol. 11
doi: 10.12688/f1000research.122949.2

Marie Vallier et al.
Characterisation of gut microbiota composition in patients with axial spondyloarthritis and its modulation by TNF inhibitor treatment
RMD Open 2023, vol. 9, issue 1
doi: 10.1136/rmdopen-2022-002794