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PreviewIssue DateTitleAuthor(s)
2020A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networksDomingo, D.; Nawaz, U.; Corbett, M.; Espinoza, J.L.; Tatton-Brown, K.; Coman, D.; Wilkinson, M.F.; Gecz, J.; Jolly, L.A.
2021Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plusHeron, S.E.; Regan, B.M.; Harris, R.V.; Gardner, A.E.; Coleman, M.J.; Bennett, M.F.; Grinton, B.E.; Helbig, K.L.; Sperling, M.R.; Haut, S.; Geller, E.B.; Widdess-Walsh, P.; Pelekanos, J.T.; Bahlo, M.; Petrovski, S.; Heinzen, E.L.; Hildebrand, M.S.; Corbett, M.A.; Scheffer, I.E.; Gecz, J.; et al.
2021A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataractJones, J.L.; Corbett, M.A.; Yeaman, E.; Zhao, D.; Gecz, J.; Gasperini, R.J.; Charlesworth, J.C.; Mackey, D.A.; Elder, J.E.; Craig, J.E.; Burdon, K.P.
2020A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsyKolc, K.L.; Sadleir, L.G.; Depienne, C.; Marini, C.; Scheffer, I.E.; Møller, R.S.; Trivisano, M.; Specchio, N.; Pham, D.; Kumar, R.; Roberts, R.; Gecz, J.
2020Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesBennett, M.F.; Oliver, K.L.; Regan, B.M.; Bellows, S.T.; Schneider, A.L.; Rafehi, H.; Sikta, N.; Crompton, D.E.; Coleman, M.; Hildebrand, M.S.; Corbett, M.A.; Kroes, T.; Gecz, J.; Scheffer, I.E.; Berkovic, S.F.; Bahlo, M.

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