CNRGH
Gaël Nicolas et al.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening
Genetics in Medicine 2024, vol. 26, issue 5
doi: 10.1016/j.gim.2024.101082
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
G El soufi et al.
Highly efficient and sensitive membrane-based concentration process allows quantification, surveillance, and sequencing of viruses in large volumes of wastewater
Water Research 2023, vol. 249
doi: 10.1016/j.watres.2023.120959
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
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, vol. 32, issue 2
doi: 10.1038/s41431-023-01474-x
Laurence Pacot et al.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1
British Journal of Dermatology 2023, vol. 190, issue 2
doi: 10.1093/bjd/ljad390
Elise A Lucotte et al.
Investigation of common genetic risk factors between thyroid traits and breast cancer
Human Molecular Genetics 2023, vol. 33, issue 1
doi: 10.1093/hmg/ddad159
The COVID-19 Host Genetics Initiative
A second update on mapping the human genetic architecture of COVID-19
Nature 2023, vol. 621, issue 7977
doi: 10.1038/s41586-023-06355-3