Preview | Issue Date | Title | Author(s) |
| 2012 | BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down Syndrome patients | Tlili, A.; Hoischen, A.; Ripoll, C.; Benabou, E.; Badel, A.; Ronan, A.; Touraine, R.; Grattau, Y.; Stora, S.; Van Bon, B.; de Vries, B.; Menten, B.; Bockaert, N.; Gecz, J.; Antonarakis, S.; Campion, D.; Potier, M.; Blehaut, H.; Delabar, J.; Janel, N. |
| 2010 | De novo mutations of SETBP1 cause Schinzel-Giedion syndrome | Hoischen, A.; Van Bon, B.; Gilissen, C.; Arts, P.; van Lier, B.; Steehouwer, M.; de Vries, P.; de Reuver, R.; Wieskamp, N.; Mortier, G.; Devriendt, K.; Amorim, M.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Olay, C.; Henderson, A.; Hayes, I.; et al. |
| 2015 | Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems | Kumar, R.; Corbett, M.; Van Bon, B.; Gardner, A.; Woenig, J.; Jolly, L.; Douglas, E.; Friend, K.; Tan, C.; Van Esch, H.; Holvoet, M.; Raynaud, M.; Field, M.; Leffler, M.; Budny, B.; Wisniewska, M.; Badura-Stronka, M.; Latos-Bieleńska, A.; Batanian, J.; Rosenfeld, J.; et al. |
| 2015 | THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability | Kumar, R.; Corbett, M.; Van Bon, B.; Woenig, J.; Weir, L.; Douglas, E.; Friend, K.; Gardner, A.; Shaw, M.; Jolly, L.; Tan, C.; Hunter, M.; Hackett, A.; Field, M.; Palmer, E.; Leffler, M.; Rogers, C.; Boyle, J.; Bienek, M.; Jensen, C.; et al. |
| 2015 | Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy | McMichael, G.; Bainbridge, M.; Haan, E.; Corbett, M.; Gardner, A.; Thompson, S.; Van Bon, B.; Van Eyk, C.; Broadbent, J.; Reynolds, C.; O'Callaghan, M.; Nguyen, L.; Adelson, D.; Russo, R.; Jhangiani, S.; Doddapaneni, H.; Muzny, D.; Gibbs, R.; Gecz, J.; MacLennan, A. |