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Chachlaki, Konstantina; Messina, Andrea; Delli, Virginia; Leysen, Valerie; Maurnyi, Csilla; Huber, Chieko; Ternier, Gaëtan; Skrapits, Katalin; Papadakis, Georgios; Shruti, Sonal; Kapanidou, Maria; Cheng, Xu; Acierno, James; Rademaker, Jesse; Rasika, Sowmyalakshmi; Quinton, Richard; Niedziela, Marek; L'Allemand, Dagmar; Pignatelli, Duarte; Dirlewander, Mirjam; ... (2022). NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice. Science translational medicine, 14(665), eabh2369. American Association for the Advancement of Science 10.1126/scitranslmed.abh2369
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
