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Preview	Issue Date	Title	Author(s)
	2016	Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2	Henden, L.; Freytag, S.; Afawi, Z.; Baldassari, S.; Berkovic, S.; Bisulli, F.; Canafoglia, L.; Casari, G.; Crompton, D.; Depienne, C.; Gecz, J.; Guerrini, R.; Helbig, I.; Hirsch, E.; Keren, B.; Klein, K.; Labauge, P.; LeGuern, E.; Licchetta, L.; Mei, D.; et al.
	2004	1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family	Lower, K.; Solders, G.; Bondeson, M.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.
	2012	Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay	Lynch, S.; Nguyen, L.; Ng, L.; Waldron, M.; McDonald, D.; Gecz, J.
	2012	A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability	Huang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
	2002	Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX	Stromme, P.; Mangelsdorf, M.; Scheffer, I.; Gecz, J.
	2004	Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia	Shaw, M.; Gecz, J.; McDonough, B.; Hodess, A.; Harter, D.
	2002	Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation	Turner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
	2005	Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males	Van Esch, H.; Bauters, M.; Ignatius, J.; Jansen, M.; Raynaud, M.; Hollanders, K.; Lutenberg, D.; Bienvenu, T.; Jensen, L.; Gecz, J.; Moraine, C.; Marynen, P.; Fryns, J.; Froyen, G.
	2005	Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation	Jensen, L.; Amende, M.; Gurok, U.; Moser, B.; Gimmel, V.; Tzschach, A.; Janecke, A.; Tariverdian, G.; Chelly, J.; Fryns, J.; Van Esch, H.; Kleefstra, T.; Hamel, B.; Moraine, C.; Gecz, J.; Turner, G.; Reinhardt, R.; Kalscheuer, V.; Ropers, H.; Lenzer, S.
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.