Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability von Riazuddin, S, Hussain, M, Razzaq, A, Iqbal, Z, Shahzad, M, Polla, D L, Song, Y, van Beusekom, E, Khan, A A, Tomas-Roca, L, Rashid, M, Zahoor, M Y, Wissink-Lindhout, W M, Basra, M A R, Ansar, M, Agha, Z, van Heeswijk, K, Rasheed, F, Van de Vorst, M, Veltman, J A, Gilissen, C, Akram, J, Kleefstra, T, Assir, M Z, Grozeva, D, Carss, K, Raymond, F L, O'Connor, T D, Riazuddin, S A, Khan, S N, Ahmed, Z M, de Brouwer, A P M, van Bokhoven, H, Riazuddin, S

Volltext

MicroRNA networks direct neuronal development and plasticity von Olde Loohuis, N. F. M., Kos, A., Martens, G. J. M., Van Bokhoven, H., Nadif Kasri, N., Aschrafi, A.

Volltext

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype von Kleefstra, T, van Zelst-Stams, W A, Nillesen, W M, Cormier-Daire, V, Houge, G, Foulds, N, van Dooren, M, Willemsen, M H, Pfundt, R, Turner, A, Wilson, M, McGaughran, J, Rauch, A, Zenker, M, Adam, M P, Innes, M, Davies, C, López, A González-Meneses, Casalone, R, Weber, A, Brueton, L A, Navarro, A Delicado, Bralo, M Palomares, Venselaar, H, Stegmann, S P A, Yntema, H G, van Bokhoven, H, Brunner, H G

Volltext

Elevated microRNA-181c and microRNA-30d levels in the enlarged amygdala of the valproic acid rat model of autism von Olde Loohuis, N.F.M, Kole, K, Glennon, J.C, Karel, P, Van der Borg, G, Van Gemert, Y, Van den Bosch, D, Meinhardt, J, Kos, A, Shahabipour, F, Tiesinga, P, van Bokhoven, H, Martens, G.J.M, Kaplan, B.B, Homberg, J.R, Aschrafi, A

Volltext

ARHGAP12 Functions as a Developmental Brake on Excitatory Synapse Function von Ba, W., Selten, M.M., van der Raadt, J., van Veen, H., Li, L.-L., Benevento, M., Oudakker, A.R., Lasabuda, R.S.E., Letteboer, S.J., Roepman, R., van Wezel, R.J.A., Courtney, M.J., van Bokhoven, H., Nadif Kasri, N.

Volltext

Update on Kleefstra Syndrome von Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.

Volltext

A genome‐wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus von Cai, D.‐C., Fonteijn, H., Guadalupe, T., Zwiers, M., Wittfeld, K., Teumer, A., Hoogman, M., Arias‐Vásquez, A., Yang, Y., Buitelaar, J., Fernández, G., Brunner, H. G., van Bokhoven, H., Franke, B., Hegenscheid, K., Homuth, G., Fisher, S. E., Grabe, H. J., Francks, C., Hagoort, P.

Volltext

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate von Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C E, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh Tuy, F, van Bokhoven, H, Fryns, J-P, Chelly, J, Ropers, H-H, Moraine, C, Hamel, B C J, Briault, S

Volltext

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing von Khandelwal, K.D., Ishorst, N., Zhou, H., Ludwig, K.U., Venselaar, H., Gilissen, C., Thonissen, M., van Rooij, I.A.L.M., Dreesen, K., Steehouwer, M., van de Vorst, M., Bloemen, M., van Beusekom, E., Roosenboom, J., Borstlap, W., Admiraal, R., Dormaar, T., Schoenaers, J., Vander Poorten, V., Hens, G., Verdonck, A., Bergé, S., Roeleveldt, N., Vriend, G., Devriendt, K., Brunner, H.G., Mangold, E., Hoischen, A., van Bokhoven, H., Carels, C.E.L.

Volltext

Long-term consequences of chronic fluoxetine exposure on the expression of myelination-related genes in the rat hippocampus von Kroeze, Y, Peeters, D, Boulle, F, van den Hove, D L A, van Bokhoven, H, Zhou, H, Homberg, J R

Volltext

The p63 gene in EEC and other syndromes von Brunner, H G, Hamel, B C J, van Bokhoven, H

Volltext

Correlation of enzyme activity and clinical phenotype in POMT1 associated dystroglycanopathies von LOMMEL, M, CIRAK, S, STRAHL, S, WILLER, T, HERMANN, R, UYANIK, G, VAN BOKHOVEN, H, KÖRNER, C, VOIT, T, BARIC, I, HEHR, U

Volltext

Tooth agenesis and orofacial clefting: genetic brothers in arms? von Phan, M., Conte, F., Khandelwal, K. D., Ockeloen, C. W., Bartzela, T., Kleefstra, T., van Bokhoven, H., Rubini, M., Zhou, H., Carels, C. E. L.

Volltext

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH von Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander-Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G

Volltext

ΔNp63 is an ectodermal gatekeeper of epidermal morphogenesis von Shalom-Feuerstein, R, Lena, A M, Zhou, H, De La Forest Divonne, S, Van Bokhoven, H, Candi, E, Melino, G, Aberdam, D

Volltext

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females von Palmer, E E, Stuhlmann, T, Weinert, S, Haan, E, Van Esch, H, Holvoet, M, Boyle, J, Leffler, M, Raynaud, M, Moraine, C, van Bokhoven, H, Kleefstra, T, Kahrizi, K, Najmabadi, H, Ropers, H-H, Delgado, M R, Sirsi, D, Golla, S, Sommer, A, Pietryga, M P, Chung, W K, Wynn, J, Rohena, L, Bernardo, E, Hamlin, D, Faux, B M, Grange, D K, Manwaring, L, Tolmie, J, Joss, S, Cobben, J M, Duijkers, F A M, Goehringer, J M, Challman, T D, Hennig, F, Fischer, U, Grimme, A, Suckow, V, Musante, L, Nicholl, J, Shaw, M, Lodh, S P, Niu, Z, Rosenfeld, J A, Stankiewicz, P, Jentsch, T J, Gecz, J, Field, M, Kalscheuer, V M

Volltext

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease von CORMAND, B, PIHKO, H, VOIT, T, TOPALOGLU, H, DOBYNS, W. B, LEHESJOKI, A.-E, BAYES, M, VALANNE, L, SANTAVUORI, P, TALIM, B, GERSHONI-BARUCH, R, AHMAD, A, VAN BOKHOVEN, H, BRUNNER, H. G

Volltext

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females von Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.

Volltext

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts von Barrow, L L, van Bokhoven, H, Daack-Hirsch, S, Andersen, T, van Beersum, S E C, Gorlin, R, Murray, J C

Volltext

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome von van Reeuwijk, J, Janssen, M, van den Elzen, C, Beltran-Valero de Bernabé, D, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M A, Verrips, A, Walsh, C A, Barth, P G, Brunner, H G, van Bokhoven, H

Volltext