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Popadin, Konstantin; Peischl, Stephan; Garieri, Marco; Sailani, M. Reza; Letourneau, Audrey; Santoni, Federico; Lukowski, Samuel W.; Bazykin, Georgii A.; Nikolaev, Sergey; Meyer, Diogo; Excoffier, Laurent; Reymond, Alexandre; Antonarakis, Stylianos E. (2018). Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection. Genome research, 28(1), pp. 1-10. Cold Spring Harbor, N.Y 10.1101/gr.228411.117
Guipponi, Michel; Chentouf, Amina; Webling, Kristin E.B.; Freimann, Krista; Crespel, Arielle; Nobile, Carlo; Lemke, Johannes R.; Hansen, Jörg; Dorn, Thomas; Lesca, Gaetan; Ryvlin, Philippe; Hirsch, Edouard; Rudolf, Gabrielle; Rosenberg, Dominique Sarah; Weber, Yvonne; Becker, Felicitas; Helbig, Ingo; Muhle, Hiltrud; Salzmann, Annick; Chaouch, Malika; ... (2015). Galanin pathogenic mutations in temporal lobe epilepsy. Human molecular genetics, 24(11), pp. 3082-3091. Oxford University Press 10.1093/hmg/ddv060
Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; Deutsch, Samuel; Guigo, Roderic; Denoeud, France; Drenkow, Jorg; Rossier, Colette; Ariani, Francesca; Capra, Valeria; Excoffier, Laurent; Renieri, Alessandra; Gingeras, Thomas R.; Antonarakis, Stylianos E. (2009). Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls. Human mutation, 30(9), E866 - E879. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21073
