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Preview	Issue Date	Title	Author(s)
	2012	Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene	Nagy, R.; Wang, H.; Albrecht, B.; Wieczorek, D.; Gillessen-Kaesbach, G.; Haan, E.; Meinecke, P.; de la Chapelle, A.; Westman, J.
	2012	CCDC22: a novel candidate gene for syndromic X-linked intellectual disability	Voineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D.
	2011	A new syndrome with craniosynostosis and cleft lip and palate	Anderson, P.; Haan, E.; David, D.
	2010	CP or not CP? A review of diagnoses in a cerebral palsy register	Zarrinkalam, R.; Russo, R.; Gibson, C.; van Essen, P.; Peek, A.; Haan, E.
	2012	New mutations and sporadic intellectual disability	Gecz, J.; Haan, E.
	2010	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay	Haan, E.; Gecz, J.
	2011	Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I	He, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al.
	2011	TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families	Andreucci, E.; Aftimos, S.; Alcausin, M.; Haan, E.; Hunter, W.; Kannu, P.; Kerr, B.; McGillivray, G.; McKinlay Gardner, R.; Patricelli, M.; Sillence, D.; Thompson, E.; Zacharin, M.; Zankl, A.; Lamande, S.; Savarirayan, R.
	2014	Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth	Homan, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
	2010	Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families	Hynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.