CNRGH
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
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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
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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
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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
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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
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Yann Le Guen et al.
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
Proceedings of the National Academy of Sciences 2023, vol. 120, issue 36
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Maryam Karimi et al.
A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort
Cancers 2023, vol. 15, issue 17
doi: 10.3390/cancers15174218