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Page 1
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: ludwig te. Ann Neurol. 2021 Dec;90(6):962-975. doi: 10.1002/ana.26242. Epub 2021 Oct 20. Ann Neurol. 2021. PMID: 34606115
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium; Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Kim A, et al. Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290. Brain. 2019. PMID: 30508070 Free 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: ludwig te. Genet Epidemiol. 2019 Sep;43(6):646-656. doi: 10.1002/gepi.22210. Epub 2019 May 13. Genet Epidemiol. 2019. PMID: 31087445
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage.
Gourhant L, Bocher O, De Saint Martin L, Ludwig TE, Boland A, Deleuze JF, Merviel P, Dupré PF, Lemarié CA, Couturaud F, Le Maréchal C, Génin E, Pasquier E. Gourhant L, et al. Among authors: ludwig te. Reprod Biomed Online. 2021 Apr;42(4):789-798. doi: 10.1016/j.rbmo.2021.01.008. Epub 2021 Jan 19. Reprod Biomed Online. 2021. PMID: 33658156
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: ludwig te. 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.
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.
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Belot A, Rice GI, Omarjee SO, Rouchon Q, Smith EMD, Moreews M, Tusseau M, Frachette C, Bournhonesque R, Thielens N, Gaboriaud C, Rouvet I, Chopin E, Hoshino A, Latour S, Ranchin B, Cimaz R, Romagnani P, Malcus C, Fabien N, Sarda MN, Kassai B, Lega JC, Decramer S, Abou-Jaoude P, Bruce IN, Simonet T, Bardel C, Rollat-Farnier PA, Viel S, Reumaux H, O'Sullivan J, Walzer T, Mathieu AL, Marenne G, Ludwig T, Genin E, Ellingford J, Bader-Meunier B, Briggs TA, Beresford MW, Crow YJ; FREX Consortium; GENIAL Investigators; UK JSLE Study Group. Belot A, et al. Lancet Rheumatol. 2020 Feb;2(2):e99-e109. doi: 10.1016/S2665-9913(19)30142-0. Epub 2020 Jan 13. Lancet Rheumatol. 2020. PMID: 38263665
65 results