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Preview	Issue Date	Title	Author(s)
	2015	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy	Muona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
	2011	Gaucher disease in sheep	Karageorgos, L.; Lancaster, M.; Nimmo, J.; Hopwood, J.
	2010	Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome	Gecz, J.
	2010	Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination	Pearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.
	2011	Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability	Melko, M.; Douguet, D.; Bensaid, M.; Zongaro, S.; Verheggen, C.; Gecz, J.; Bardoni, B.
	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.