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Preview	Issue Date	Title	Author(s)
	2015	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis	Ramos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
	2016	HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study	Friez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
	2015	Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity	Brookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
	2012	KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy	Weckhuysen, S.; Mandelstam, S.; Suls, A.; Audenaert, D.; Deconinck, T.; Claes, L.; Deprez, L.; Smets, K.; Hristova, D.; Yordanova, I.; Jordanova, A.; Ceulemans, B.; Jansen, A.; Hasaerts, D.; Roelens, F.; Lagae, L.; Yendle, S.; Stanley, T.; Heron, S.; Mulley, J.; et al.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2014	Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations	Scheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
	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	Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study	McIntosh, A.; McMahon, J.; Dibbens, L.; Iona, X.; Mulley, J.; Scheffer, I.; Berkovic, S.
	2011	Screening patients referred to a metabolic clinic for lysosomal storage disorders	Fuller, M.; Tucker, J.; Lang, D.; Dean, C.; Fietz, M.; Meikle, P.; Hopwood, J.
	2012	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing	Calvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.