Preview | Issue Date | Title | Author(s) |
| 2012 | A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability | Huang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J. |
| 2003 | Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation | Kalscheuer, V.; Freude, K.; Musante, L.; Jensen, L.; Yntema, H.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.; Shoichet, S.; Hagens, O.; Tao, J.; et al. |
| 2016 | New insights into Brunner syndrome and potential for targeted therapy | Palmer, E.; Leffler, M.; Rogers, C.; Shaw, M.; Carroll, R.; Earl, J.; Cheung, N.; Champion, B.; Hu, H.; Haas, S.; Kalscheuer, V.; Gecz, J.; Field, M. |
| 2013 | RAB40AL loss-of-function mutation does not cause X-linked intellectual disability | Kalscheuer, V.; Iqbal, Z.; Hu, H.; Haas, S.; Shaw, M.; Lebrun, N.; Seemanova, E.; Voesenek, K.; Hobson, L.; Ropers, H.H.; Townshend, S.; Raynaud, M.; van Bokhoven, H.; Riazuddin, S.; Chelly, J.; Gecz, J. |
| 2016 | X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes | Hu, H.; Haas, S.; Chelly, J.; Van Esch, H.; Raynaud, M.; De Brouwer, A.; Weinert, S.; Froyen, G.; Frints, S.; Laumonnier, F.; Zemojtel, T.; Love, M.; Richard, H.; Emde, A.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; et al. |