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PreviewIssue DateTitleAuthor(s)
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
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.
1996Identification of the gene FMR2, associated with FRAXE mental retardationGecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
2018A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencyJansen, S.; Hoischen, A.; Coe, B.; Carvill, G.; van Esch, H.; Bosch, D.; Andersen, U.; Baker, C.; Bauters, M.; Bernier, R.; van Bon, B.; Claahsen-van der Grinten, H.; Gecz, J.; Gilissen, C.; Grillo, L.; Hackett, A.; Kleefstra, T.; Koolen, D.; Kvarnung, M.; Larsen, M.; et al.
1999Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardationGecz, J.; Barnett, S.; Liu, J.; Hollway, G.; Donnelly, A.; Eyre, H.; Eshkevari, H.; Baltazar, R.; Grunn, A.; Nagaraja, R.; Gilliam, C.; Peltonen, L.; Sutherland, G.; Baron, M.; Mulley, J.
2018Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autismVan Eyk, C.; Corbett, M.; Gardner, A.; Van Bon, B.; Broadbent, J.; Harper, K.; MacLennan, A.; Gecz, J.

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