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Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. Edery P, et al. Among authors: sahbatou m. Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205. Science. 2011. PMID: 21474761
FSuite: exploiting inbreeding in dense SNP chip and exome data.
Gazal S, Sahbatou M, Babron MC, Génin E, Leutenegger AL. Gazal S, et al. Among authors: sahbatou m. Bioinformatics. 2014 Jul 1;30(13):1940-1. doi: 10.1093/bioinformatics/btu149. Epub 2014 Mar 14. Bioinformatics. 2014. PMID: 24632498 Free article.
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A; French Parkinson's Disease Genetics Study (PDG); International Parkinson's Disease Genomics Consortium (IPDGC). Lesage S, et al. Among authors: sahbatou m. Am J Hum Genet. 2016 Mar 3;98(3):500-513. doi: 10.1016/j.ajhg.2016.01.014. Am J Hum Genet. 2016. PMID: 26942284 Free PMC article.
Estimating the age of p.(Phe508del) with family studies of geographically distinct European populations and the early spread of cystic fibrosis.
Farrell P, Férec C, Macek M, Frischer T, Renner S, Riss K, Barton D, Repetto T, Tzetis M, Giteau K, Duno M, Rogers M, Levy H, Sahbatou M, Fichou Y, Le Maréchal C, Génin E. Farrell P, et al. Among authors: sahbatou m. Eur J Hum Genet. 2018 Dec;26(12):1832-1839. doi: 10.1038/s41431-018-0234-z. Epub 2018 Aug 8. Eur J Hum Genet. 2018. PMID: 30089827 Free PMC article.
37 results