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PreviewIssue DateTitleAuthor(s)
2017YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunctionGabriele, M.; Vulto-van Silfhout, A.; Germain, P.; Vitriolo, A.; Kumar, R.; Douglas, E.; Haan, E.; Kosaki, K.; Takenouchi, T.; Rauch, A.; Steindl, K.; Frengen, E.; Misceo, D.; Pedurupillay, C.; Stromme, P.; Rosenfeld, J.; Shao, Y.; Craigen, W.; Schaaf, C.; Rodriguez-Buritica, D.; et al.
2017Functional equivalence of the SOX2 and SOX3 transcription factors in the developing mouse brain and testesAdikusuma, F.; Pederick, D.; McAninch, D.; Hughes, J.; Thomas, P.
2017Unravelling mummies: cryptic diversity, host specificity, trophic and coevolutionary interactions in psyllid-parasitoid food websHall, A.; Steinbauer, M.; Taylor, G.; Johnson, S.; Cook, J.; Riegler, M.
2017Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)Javadiyan, S.; Craig, J.; Sharma, S.; Lower, K.; Casey, T.; Haan, E.; Souzeau, E.; Burdon, K.
2017Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiencyBalasubramaniam, S.; Riley, L.; Bratkovic, D.; Ketteridge, D.; Manton, N.; Cowley, M.; Gayevskiy, V.; Roscioli, T.; Mohamed, M.; Gardeitchik, T.; Morava, E.; Christodoulou, J.
2017Insights into DDT resistance from the Drosophila melanogaster Genetic Reference PanelSchmidt, J.M.; Battlay, P.; Gledhill-Smith, R.S.; Good, R.T.; Lumb, C.; Fournier-Level, A.; Robin, C.
2017Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsCorbett, M.; Turner, S.; Gardner, A.; Silver, J.; Stankovich, J.; Leventer, R.; Derry, C.; Carroll, R.; Ha, T.; Scheffer, I.; Bahlo, M.; Jackson, G.; Mackey, D.; Berkovic, S.; Gecz, J.
2017CRISPR/Cas9-mediated mutagenesis of the white gene in the tephritid pest Bactrocera tryoniChoo, A.; Crisp, P.; Saint, R.; O'Keefe, L.; Baxter, S.
2017CRLF2-positive B-cell acute lymphoblastic leukemia in adult patients : a single-institution experienceKonoplev, S.; Lu, X.; Konopleva, M.; Jain, N.; Ouyang, J.; Goswami, M.; Roberts, K.; Valentine, M.; Mullighan, C.; Bueso-Ramos, C.; Zweidler-McKay, P.; Jorgensen, J.; Wang, S.
2017The Australasian spiny trapdoor spiders of the family Idiopidae (Mygalomorphae:Arbanitinae): A relimitation and revision at the generic levelRix, M.; Raven, R.; Main, B.; Harrison, S.; Austin, A.; Cooper, S.; Harvey, M.