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Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.
Bocher O, Ludwig TE, Oglobinsky MS, Marenne G, Deleuze JF, Suryakant S, Odeberg J, Morange PE, Trégouët DA, Perdry H, Génin E. Bocher O, et al. Among authors: marenne g. PLoS Genet. 2022 Sep 16;18(9):e1009923. doi: 10.1371/journal.pgen.1009923. eCollection 2022 Sep. PLoS Genet. 2022. PMID: 36112662 Free PMC article.
Rare variant association testing for multicategory phenotype.
Bocher O, Marenne G, Saint Pierre A, Ludwig TE, Guey S, Tournier-Lasserve E, Perdry H, Génin E. Bocher O, et al. Among authors: marenne g. Genet Epidemiol. 2019 Sep;43(6):646-656. doi: 10.1002/gepi.22210. Epub 2019 May 13. Genet Epidemiol. 2019. PMID: 31087445
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Aloui C, Hervé D, Marenne G, Savenier F, Le Guennec K, Bergametti F, Verdura E, Ludwig TE, Lebenberg J, Jabeur W, Morel H, Coste T, Demarquay G, Bachoumas P, Cogez J, Mathey G, Bernard E; FREX consortium; Chabriat H, Génin E, Tournier-Lasserve E. Aloui C, et al. Among authors: marenne g. Ann Neurol. 2021 Dec;90(6):962-975. doi: 10.1002/ana.26242. Epub 2021 Oct 20. Ann Neurol. 2021. PMID: 34606115
How local reference panels improve imputation in French populations.
Herzig AF, Velo-Suárez L; FrEx Consortium; FranceGenRef Consortium; Dina C, Redon R, Deleuze JF, Génin E. Herzig AF, et al. Sci Rep. 2024 Jan 3;14(1):370. doi: 10.1038/s41598-023-49931-3. Sci Rep. 2024. PMID: 38172507 Free PMC article.
44 results