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Preview	Issue Date	Title	Author(s)
	2007	Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study	Cavalleri, G.; Weale, M.; Shianna, K.; Singh, R.; Lynch, J.; Grinton, B.; Szoeke, C.; Murphy, K.; Kinirons, P.; O'Rourke, D.; Ge, D.; Depondt, C.; Claeys, K.; Pandolfo, M.; Gumbs, C.; Walley, N.; McNamara, J.; Mulley, J.; Linney, K.; Sheffield, L.; et al.
	2009	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation	Tarpey, P.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S.; Hardy, C.; O'Meara, S.; Latimer, C.; Dicks, E.; Menzies, A.; Stephens, P.; Blow, M.; Greenman, C.; Xue, Y.; Tyler-Smith, C.; Thompson, D.; Gray, K.; Andrews, J.; Barthorpe, S.; Buck, G.; et al.
	2010	Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability	Shoubridge, C.; Tarpey, P.; Abidi, F.; Ramsden, S.; Rujirabanjerd, S.; Murphy, J.; Boyle, J.; Shaw, M.; Gardner, A.; Proos, A.; Puusepp, H.; Raymond, F.; Schwartz, C.; Stevenson, R.; Turner, G.; Field, M.; Walikonis, R.; Harvey, R.; Hackett, A.; Futreal, P.; et al.
	2012	Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry	Walsh, M.; Buchanan, D.; Pearson, S.; Clendenning, M.; Jenkins, M.; Win, A.; Walters, R.; Spring, K.; Nagler, B.; Pavluk, E.; Arnold, S.; Goldblatt, J.; George, J.; Suthers, G.; Phillips, K.; Hopper, J.; Jass, J.; Baron, J.; Ahnen, D.; Thibodeau, S.; et al.
	2013	Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A	Reinstein, E.; Frentz, S.; Morgan, T.; Garcia-Minaur, S.; Leventer, R.; McGillivray, G.; Pariani, M.; van der Steen, A.; Pope, M.; Holder-Espinasse, M.; Scott, R.; Thompson, E.; Robertson, T.; Coppin, B.; Siegel, R.; Zurita, M.; Rodriguez, J.; Morales, C.; Rodrigues, Y.; Arcas, J.; et al.
	2008	MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression	Frints, S.; Lenzer, S.; Bauters, M.; Jensen, L.; Van Esch, H.; des Portes, V.; Moog, U.; Macville, M.; Roozendaal, K.; Schrander-Stumpel, C.; Tzschach, A.; Marynen, P.; Fryns, J.; Hamel, B.; van Bokhoven, H.; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; et al.
	2009	Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy	Lugtenberg, D.; Kleefstra, T.; Oudakker, A.; Nillesen, W.; Yntema, H.; Tzschach, A.; Raynaud, M.; Rating, D.; Journel, H.; Chelly, J.; Goizet, C.; Lacombe, D.; Pedespan, J.; Echenne, B.; Tariverdian, G.; O'Rourke, D.; King, M.; Green, A.; Van Kogelenberg, M.; Van Esch, H.; et al.
	2010	PHF6 mutations in T-cell acute lymphoblastic leukemia	Van Vlierberghe, P.; Palomero, T.; Khiabanian, H.; Van der Meulen, J.; Castillo, M.; Van Roy, N.; De Moerloose, B.; Philippe, J.; Gonzalez-Garcia, M.; Toribio, M.; Taghon, T.; Zuurbier, L.; Cauwelier, B.; Harrison, C.; Schwab, C.; Pisecker, M.; Strehl, S.; Langerak, A.; Gecz, J.; Sonneveld, E.; et al.
	2010	De novo mutations of SETBP1 cause Schinzel-Giedion syndrome	Hoischen, A.; Van Bon, B.; Gilissen, C.; Arts, P.; van Lier, B.; Steehouwer, M.; de Vries, P.; de Reuver, R.; Wieskamp, N.; Mortier, G.; Devriendt, K.; Amorim, M.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Olay, C.; Henderson, A.; Hayes, I.; et al.
	2007	An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation	Upadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; et al.