Publications of M. Hambrock

Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F. et al.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A.-K.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M.-P.; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; van Bömmel, A.; Göke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Müller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bieleńska, A.; Ousager, L. B.; Wieacker, P.; Rodríguez Criado, G.; Bondeson, M.-L.; Annerén, G.; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J.-P.; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H.-H.; Kalscheuer, V. M.: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 21 (1), pp. 133 - 148 (2016)

Ricciardi, S.; Ungaro, F.; Hambrock, M.; Rademacher, N.; Stefanelli, G.; Brambilla, D.; Sessa, A.; Magagnotti, C.; Bachi, A.; Giarda, E. et al.; Verpelli, C.; Kilstrup-Nielsen, C.; Sala, C.; Kalscheuer, V. M.; Broccoli, V.: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature Cell Biology 14 (9), pp. 911 - 923 (2012)

Rademacher, N.; Hambrock, M.; Fischer, U.; Moser, B.; Ceulemans, B.; Lieb, W.; Boor, R.; Stefanova, I.; Gillessen-Kaesbach, G.; Runge, C. et al.; Korenke, G. C.; Spranger, S.; Laccone, F.; Tzschach, A.; Kalscheuer, V. M.: Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics 12 (2), pp. 165 - 7 (2011)

Krauß, S.; So, J.; Hambrock, M.; Köhler, A.; Kunath, M.; Scharff, C.; Wessling, M.; Grzeschik, K.-H.; Schneider, R.; Schweiger, S.: Point mutations in GLI3 lead to misregulation of its subcellular localization. PLoS ONE 4, p. e7471 - e7471 (2009)