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PreviewIssue DateTitleAuthor(s)
2009Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13Shoubridge, C.; Tan, M.; Fullston, T.; McGillivray, G.; Mancini, G.; Gecz, J.; Annual meeting of the American Society of Human Genetics (59th : 2009 : Honolulu, Hawaii)
2009Clinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX GeneDemos, M.; Fullston, T.; Partington, M.; Gecz, J.; Gibson, W.
2009A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generationsReish, O.; Fullston, T.; Regev, M.; Heyman, E.; Gecz, J.
2009A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyBurdon, K.; Durkin, S.; Burke, M.; Edwards, M.; Pater, J.; Straga, T.; Gecz, J.; Liebelt, J.; Craig, J.
2009A UPF3-mediated regulatory switch that maintains RNA surveillanceChan, W.; Bhalla, A.; Le Hir, H.; Nguyen, L.; Huang, L.; Gecz, J.; Wilkinson, M.
2009Lessons learnt from large-scale exon re-sequencing of the X chromosomeRaymond, F.; Whibley, A.; Stratton, M.; Gecz, J.
2009FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structureBensaid, M.; Melko, M.; Bechara, E.; Davidovic, L.; Berretta, A.; Catania, M.; Gecz, J.; Lalli, E.; Bardoni, B.
2009The genetic landscape of intellectual disability arising from chromosome XGecz, J.; Shoubridge, C.; Corbett, M.
2009Börjeson-Forssman-Lehmann SyndromeCrawford, J.; Partington, M.; Corbett, M.; Lower, K.; Gecz, J.; Beales, P.; Farooqi, I.; O'Rahilly, S.

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