Adelaide Research & Scholarship
Browsing "Genetics publications" by Author Gardner, A.
Showing results 1 to 5 of 5
| Preview | Issue Date | Title | Author(s) |
| 2018 | Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism | Van Eyk, C.; Corbett, M.; Gardner, A.; Van Bon, B.; Broadbent, J.; Harper, K.; MacLennan, A.; Gecz, J. |
| 2020 | Constraint and conservation of the paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance | Thai, H.; Gardner, A.; Redpath, L.; Mattiske, T.; Dearsley, O.; Shaw, M.; Vulto-van Silfhout, A.T.; Pfundt, R.; Dixon, J.; McGaughran, J.; Pérez-Jurado, L.A.; Gécz, J.; Shoubridge, C. |
| 2017 | Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations | Corbett, 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. |
| 2021 | Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants | Pham, D.H.; Pitman, M.R.; Sharma, R.; Jolly, L.; Schulz, R.; Gardner, A.; de Nys, R.; Heron, S.E.; Corbett, M.A.; Kothur, K.; Gill, D.; Rajagopalan, S.; Kolc, K.; Halliday, B.J.; Robertson, S.P.; Regan, B.M.; Kirsch, H.E.; Berkovic, S.F.; Scheffer, I.E.; Pitson, S.M.; et al. |
| 2020 | Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion | Carroll, R.; Shaw, M.; Arvio, M.; Gardner, A.; Kumar, R.; Hodgson, B.; Heron, S.; McKenzie, F.; Järvelä, I.; Gecz, J. |
