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PreviewIssue DateTitleAuthor(s)
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
2013Influence of aromatase absence on the gene expression and histology of the mouse meibomian glandRahimi Darabad, R.; Suzuki, T.; Richards, S.; Jensen, R.; Jakobiec, F.; Zakka, F.; Liu, S.; Sullivan, D.
2015Alzheimer's disease-related peptide PS2V plays ancient, conserved roles in suppression of the unfolded protein response under hypoxia and stimulation of γ-secretase activityMoussavi Nik, S.; Newman, M.; Wilson, L.; Ebrahimie, E.; Wells, S.; Musgrave, I.; Verdile, G.; Martins, R.; Lardelli, M.
2011Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseasesLawlor, K.; O'Keefe, L.; Samaraweera, S.; van Eyk, C.; McLeod, C.; Maloney, C.; Dang, T.; Suter, C.; Richards, R.
2013Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disordersNguyen, L.; Kim, H.; Rosenfeld, J.; Shen, Y.; Gusella, J.; Lacassie, Y.; Layman, L.; Shaffer, L.; Gecz, J.
2011Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutationsDibbens, L.; Kneen, R.; Bayly, M.; Heron, S.; Arsov, T.; Damiano, J.; Desai, T.; Gibbs, J.; McKenzie, F.; Mulley, J.; Ronan, A.; Scheffer, I.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2017Modelling predictors of molecular response to frontline imatinib for patients with chronic myeloid leukaemiaBanjar, H.; Ranasinghe, D.; Brown, F.; Adelson, D.; Kroger, T.; Leclercq, T.; White, D.; Hughes, T.; Chaudhri, N.; Speletas, M.
2017Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsyEwans, L.J.; Field, M.; Zhu, Y.; Turner, G.; Leffler, M.; Dinger, M.E.; Cowley, M.J.; Buckley, M.F.; Scheffer, I.E.; Jackson, M.R.; Roscioli, T.; Shoubridge, C.

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