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Academic Journal
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Authors: 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., Wissink-Lindhout, W., Lebrun, N., Castelnau, L., Rucci, J., Montjean, R., Dorseuil, O., Billuart, P., Stuhlmann, T., Shaw, M., Corbett, M., Gardner, A., Willis-Owen, S., Tan, C., Friend, K., Belet, S., van Roozendaal, K., Jimenez-Pocquet, M., Moizard, M., 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., Wieacker, P., Rodríguez Criado, G., Bondeson, M., Annerén, G., Dufke, A., Cohen, M., Van Maldergem, L., Vincent-Delorme, C., Echenne, B., Simon-Bouy, B., Kleefstra, T., Willemsen, M., Fryns, J., Devriendt, K., Ullmann, R., Vingron, M., Wrogemann, K., Wienker, T., Tzschach, A., van Bokhoven, H., Gecz, J., Jentsch, T., Chen, W., Ropers, H., Kalscheuer, V.

Superior Title: Molecular Psychiatry

File Description: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-0025-7A74-C; http://hdl.handle.net/11858/00-001M-0000-0025-7A76-8

Availability: https://doi.org/10.1038/mp.2014.193
http://hdl.handle.net/11858/00-001M-0000-0025-7A74-C
http://hdl.handle.net/11858/00-001M-0000-0025-7A76-8


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7
Academic Journal
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Authors: Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M., Venselaar, H., Helsmoortel, C., Cho, M., Hoischen, A., Vissers, L., Koemans, T., Wissink-Lindhout, W., Eichler, E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K., van Bon, B., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B., Van Dijck, A., Innes, A., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M., Henderson, A., Lynch, S., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Study, D., Dijkstra, S., Schieving, J., Giltay, J., van Gassen, K., Schuurs-Hoeijmakers, J., Tan, P., Pediaditakis, I., Haas, S., Retterer, K., Reed, P., Monaghan, K., Haverfield, E., Natowicz, M., Myers, A., Kruer, M., Stein, Q., Strauss, K., Brigatti, K., Keating, K., Burton, B., Kim, K., Charrow, J., Norman, J., Foster-Barber, A., Kline, A., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K., van Roozendaal, K., Brunner, H., Chung, W., Kooy, R., Pfundt, R., Kalscheuer, V., Mehta, S., Katsanis, N., Kleefstra, T.

Superior Title: The American Journal of Human Genetics

File Description: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pissn/1537-6605 (Electronic)0002-9297 (Print); http://hdl.handle.net/11858/00-001M-0000-002A-35C1-2; http://hdl.handle.net/11858/00-001M-0000-002A-35C3-D

Availability: https://doi.org/10.1016/j.ajhg.2015.07.004
http://hdl.handle.net/11858/00-001M-0000-002A-35C1-2
http://hdl.handle.net/11858/00-001M-0000-002A-35C3-D


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