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Preview	Issue Date	Title	Author(s)
	1995	Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boys	Gedeon, A.; Keinanen, M.; Ades, L.; Kaarianen, H.; Gecz, J.; Baker, E.; Sutherland, G.; Mulley, J.
	2007	The original Lujan syndrome family has a novel missense mutation (p. N1007S) in the MED12 gene	Schwartz, C.; Tarpey, P.; Lubs, H.; Verloes, A.; May, M.; Risheg, H.; Friez, M.; Futreal, P.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensin, R.; Joseph, S.; Jones, J.; Gecz, J.; Stratton, M.; Raymond, F.; Stevenson, R.
	2017	Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations	Corbett, M.; Turner, S.; Gardner, A.; Silver, J.; Stankovich, J.; Leventer, R.; Derry, C.; Carroll, R.; Ha, T.; Scheffer, I.; Bahlo, M.; Jackson, G.; Mackey, D.; Berkovic, S.; Gecz, J.
	2020	Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion	Carroll, R.; Shaw, M.; Arvio, M.; Gardner, A.; Kumar, R.; Hodgson, B.; Heron, S.; McKenzie, F.; Järvelä, I.; Gecz, J.
	1999	Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda	Gedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
	2020	Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics	Gecz, J.; Thomas, P.Q.
	1999	Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient	Gecz, J.; Baker, E.; Donnelly, A.; Ming, J.; McDonald-McGinn, D.; Spinner, N.; Zackai, E.; Sutherland, G.; Mulley, J.
	2013	Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders	Nguyen, L.; Kim, H.; Rosenfeld, J.; Shen, Y.; Gusella, J.; Lacassie, Y.; Layman, L.; Shaffer, L.; Gecz, J.
	1996	Identification of the gene FMR2, associated with FRAXE mental retardation	Gecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
	2010	Great expectations: using massively parallel sequencing to solve inherited disorders	Corbett, M.; Gecz, J.