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Preview	Issue Date	Title	Author(s)
	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	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	FOXP1 mutations cause intellectual disability and a recognizable phenotype	Le Fevre, A.; Taylor, S.; Malek, N.; Horn, D.; Carr, C.; Abdul-Rahman, O.; O'Donnell, S.; Burgess, T.; Shaw, M.; Gecz, J.; Bain, N.; Fagan, K.; Hunter, M.
	2015	Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability	Grozeva, D.; Carss, K.; Spasic-Boskovic, O.; Tejada, M.; Gecz, J.; Shaw, M.; Corbett, M.; Haan, E.; Thompson, E.; Friend, K.; Hussain, Z.; Hackett, A.; Field, M.; Renieri, A.; Stevenson, R.; Schwartz, C.; Floyd, J.; Bentham, J.; Cosgrove, C.; Keavney, B.; et al.
	2015	Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal	Haines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
	2010	CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes	Hackett, A.; Tarpey, P.; Licata, A.; Cox, J.; Whibley, A.; Boyle, J.; Rogers, C.; Grigg, J.; Partington, M.; Stevenson, R.; Tolmie, J.; Yates, J.; Turner, G.; Wilson, M.; Futreal, P.; Corbett, M.; Shaw, M.; Gecz, J.; Raymond, F.; Stratton, M.
	2012	Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations	Field, M.; Scheffer, I.; Gill, D.; Wilson, M.; Christie, L.; Shaw, M.; Gardner, A.; Glubb, G.; Hobson, L.; Corbett, M.; Friend, K.; Willis-Owen, S.; Gecz, J.