Adelaide Research & Scholarship
Browsing "Medicine publications" by Author Cummings, B.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 2019 | Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assembly | Bryen, S.J.; Joshi, H.; Evesson, F.J.; Girard, C.; Ghaoui, R.; Waddell, L.B.; Testa, A.C.; Cummings, B.; Arbuckle, S.; Graf, N.; Webster, R.; MacArthur, D.G.; Laing, N.G.; Davis, M.R.; Lührmann, R.; Cooper, S.T. |
| 2020 | Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy | Bryen, S.J.; Ewans, L.; Pinner, J.; MacLennan, S.C.; Donkervoort, S.; Castro, D.; Töpf, A.; O'Grady, G.; Cummings, B.; Chao, K.R.; Weisburd, B.; Francioli, L.; Faiz, F.; Bournazos, A.M.; Hu, Y.; Malicki, D.M.; Doyle, H.; Witting, N.; Vissing, J.; Claeys, K.G.; et al. |