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Functional networks of inhibitory neurons orchestrate synchrony in the hippocampus.
Bocchio M, Vorobyev A, Sadeh S, Brustlein S, Dard R, Reichinnek S, Emiliani V, Baude A, Clopath C, Cossart R. Bocchio M, et al. Among authors: dard r. PLoS Biol. 2024 Oct 14;22(10):e3002837. doi: 10.1371/journal.pbio.3002837. eCollection 2024 Oct. PLoS Biol. 2024. PMID: 39401246 Free PMC article.
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H, Jones N, Matis T, Bonneau D, Busa T, Bonnet F, Conrad S, Crivelli L, Monin P, Fert-Ferrer S, Mortemousque I, Raad S, Lacombe D, Caux F, Sevenet N, Bubien V, Longy M; French Cowden Disease Network. Margot H, et al. J Med Genet. 2024 Nov 25;61(12):1071-1079. doi: 10.1136/jmg-2024-109982. J Med Genet. 2024. PMID: 39358013
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: dard r. Prenat Diagn. 2024 Sep;44(10):1179-1197. doi: 10.1002/pd.6623. Epub 2024 Aug 13. Prenat Diagn. 2024. PMID: 39138116
X-linked transient antenatal Bartter syndrome related to MAGED2 gene: enriching the phenotypic description and pathophysiologic investigation.
Buffet A, Filser M, Bruel A, Dard R, Quibel T, Dubucs C, Kwon T, Le Tanno P, Thevenon J, Ziegler A, Allard L, Guigonis V, Roux JJ, Heidet L, Rougeulle C, Boyer O, Vargas-Poussou R, Hureaux M. Buffet A, et al. Among authors: dard r. Genet Med. 2024 Jul 18:101217. doi: 10.1016/j.gim.2024.101217. Online ahead of print. Genet Med. 2024. PMID: 39036894
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
Bouassida M, Molina-Gomes D, Koraichi F, Hervé B, Lhuilier M, Duvillier C, Le Gall J, Gauthier-Villars M, Serazin V, Quibel T, Dard R, Vialard F. Bouassida M, et al. Among authors: dard r. Mol Genet Genomic Med. 2024 Apr;12(4):e2437. doi: 10.1002/mgg3.2437. Mol Genet Genomic Med. 2024. PMID: 38588252 Free PMC article.
Incidental and secondary findings in trio exome sequencing.
Cohen C, Bellanger E, Mortreux J, Raymond L, Vialard F, Dard R. Cohen C, et al. Among authors: dard r. Genes Dis. 2023 Oct 11;11(4):101137. doi: 10.1016/j.gendis.2023.101137. eCollection 2024 Jul. Genes Dis. 2023. PMID: 38523675 Free PMC article. No abstract available.
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