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Preview	Issue Date	Title	Author(s)
	2006	Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency	Knisely, A.; Strautnieks, S.; Meier, Y.; Stieger, B.; Byrne, J.; Portmann, B.; Bull, L.; Pawlikowska, L.; Bilezikci, B.; Ozcay, F.; Laszlo, A.; Tiszlavicz, L.; Moore, L.; Raftos, J.; Arnell, H.; Fischler, B.; Nemeth, A.; Papadogiannakis, N.; Cielecka-Kuszyk, J.; Jankowska, I.; et al.
	2004	Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II	Hermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
	2008	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome	Gilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
	2007	Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor	Tarpey, P.; Raymond, F.; O'Meara, S.; Edkins, S.; Teague, J.; Butler, A.; Dicks, E.; Stevens, C.; Tofts, C.; Avis, T.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Harrison, R.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; et al.
	2003	Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4	Shaw, M.; Brunetti-Pierre, N.; Kadasi, L.; Kovacova, V.; van Maldergem, L.; De Brasi, D.; Salerno, M.; Gecz, J.
	2002	ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation	Bienvenu, T.; Poirier, K.; Friocourt, G.; Bahi, N.; Beaumont, D.; Fauchereau, F.; Jeema, L.; Zemni, R.; Vinet, M.; Francis, F.; Couvert, P.; Gomot, M.; Moraine, C.; van Bokhoven, H.; Kalscheuer, V.; Frints, S.; Gecz, J.; Ohzaki, K.; Chaabouni, H.; Fryns, J.; et al.
	2007	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor	Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
	2005	Analysis of normal and mutant iduronate-2-sulphatase conformation	Parkinson-Lawrence, E.; Turner, C.; Hopwood, J.; Brooks, D.
	2005	Early onset seizures and Rett-like features associated with mutations in CDKL5	Evans, J.; Archer, H.; Colley, J.; Ravn, K.; Nielsen, J.; Kerr, A.; Williams, E.; Christodoulou, J.; Gecz, J.; Jardine, P.; Wright, M.; Pilz, D.; Lazarou, L.; Cooper, D.; Sampson, J.; Butler, R.; Whatley, S.; Clarke, A.
	2005	Enzyme replacement therapy for Gaucher disease in Australia	Goldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.