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Full Text	Issue Date	Title	Author(s)
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan	Roscioli, T.; Reeuwijk, J. van; Elzen, C. van den; Beusekom, E. van; Pfundt, R.; Vissers, L.E.L.M.; Buckley, M.F.; Zhou, H.; Veltman, J.A.; Gilissen, C.; Bokhoven, Hans van
	2011	Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice	Rainger, J.; Beusekom, E. van; Ramsay, J.K.; McKie, L.; Al-Gazali, L.; Pallotta, R.; Saponari, A.; Branney, P.; Fisher, M.; Morrison, H.; Bicknell, L.; Gautier, P.; Perry, P.; Sokhi, K.; Sexton, D.; Bardakjian, T.M.; Schneider, A.S.; Elcioglu, N.; Ozkinay, F.; Koenig, R.; Megarbane, A.; Semerci, C.N.; Khan, A.; Zafar, S.; Hennekam, R.; Sousa, S.B.; Ramos, L.; Garavelli, L.; Furga, A.S.; Wischmeijer, A.; Jackson, I.J.; Gillessen-Kaesbach, G.; Brunner, H.G.; Wieczorek, D.; Bokhoven, J.H.L.M. van; FitzPatrick, D.R.
	2010	Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.	Iqbal, Z.; Cejudo-Martin, P.; Brouwer, A.; Zwaag, B. van der; Ruiz-Lozano, P.; Scimia, M.C.; Lindsey, J.D.; Weinreb, R.; Albrecht, B.; Megarbane, A.; Alanay, Y.; Ben-Neriah, Z.; Amenduni, M.; Artuso, R.; Veltman, J.A.; Beusekom, E. van; Oudakker, A.R.; Millan, J.L.; Hennekam, R.; Hamel, B.C.J.; Courtneidge, S.A.; Bokhoven, J.H.L.M. van
	2005	MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.	Bokhoven, J.H.L.M. van; Celli, J.; Reeuwijk, J. van; Rinne, T.K.; Glaudemans, B.; Beusekom, E. van; Rieu, P.N.M.A.; Newbury-Ecob, R.; Chiang, C.; Brunner, H.G.

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