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Preview	Issue Date	Title	Author(s)
	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.
	2013	CCDC22 deficiency in humans blunts activation of proinfammatory NF-KappaB signaling	Starokadomskyy, P.; Gluck, N.; Li, H.; Chen, B.; Wallis, M.; Maine, G.; Mao, X.; Zaidi, I.; Hein, M.; McDonald, F.; Lenzner, S.; Zecha, A.; Ropers, H.; Kuss, A.; McGaughran, J.; Gecz, J.; Burstein, E.
	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.
	2010	Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders	White, R.; Ho, G.; Schmidt, S.; Scheffer, I.; Fischer, A.; Yendle, S.; Bienvenu, T.; Nectoux, J.; Ellaway, C.; Darmanian, A.; Tong, X.; Cloosterman, D.; Bennetts, B.; Kalra, V.; Fullston, T.; Gecz, J.; Cox, T.; Christodoulou, J.
	2010	Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability	Shoubridge, C.; Walikonis, R.; Gecz, J.; Harvey, R.
	2014	FRA2A is a CGG repeat expansion associated with silencing of AFF3	Metsu, S.; Rooms, L.; Rainger, J.; Taylor, M.; Bengani, H.; Wilson, D.; Chilamakuri, C.; Morrison, H.; Vandeweyer, G.; Reyniers, E.; Douglas, E.; Thompson, G.; Haan, E.; Gecz, J.; FitzPatrick, D.; Kooy, R.; Pearson, C.
	2012	Polyalanine tract disorders and neurocognitive phenotypes	Shoubridge, C.; Gecz, J.; Hannan, A.
	2015	A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A	Corbett, M.A.; Dudding-Byth, T.; Crock, P.A.; Botta, E.; Christie, L.M.; Nardo, T.; Caligiuri, G.; Hobson, L.; Boyle, J.; Mansour, A.; Friend, K.L.; Crawford, J.; Jackson, G.; Vandeleur, L.; Hackett, A.; Tarpey, P.; Stratton, M.R.; Turner, G.; Gecz, J.; Field, M.
	2011	"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!	Mulley, J.C.; Heron, S.E.; Wallace, R.H.; Gecz, J.; Dibbens, L.M.
	2010	A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32	Hattersley, K.; Laurie, K.; Liebelt, J.; Gecz, J.; Durkin, S.; Craig, J.; Burden, K.