Establishing a commercial solution for extremely rare genetic diseases
Crooke, S.T., Lo, A.W.
Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells
Thomas, R., Miyoshi, E., Akman, H.O., Storz, S.H.R., Goffena, J., Pytte, J., Miller, D.E., Skourti-Stathaki, K., Crooke, S.T.
A toxic gain-of-function variant in MAPK8IP3 provides insights into JIP3 cellular roles
Zhang, W., Mittal, S., Thomas, R., Foroughishafiei, A., Nunes Bastos, R., Chung, W., Skourti-Stathaki, K., Crooke, S.T.
A way forward for diagnosis of patients with extremely rare genetic mutations
Crooke, S.T., Kim-McManus, O.S., Dalby, K.
Personalized antisense oligonucleotides ‘for free, for life’ — the n-Lorem Foundation
Gleeson, J.G., Bennett, F.B., Carroll, J.B., Cole, T., Douville, J., Glass, S., Tekendo-Ngongang, C., Williford, A.C., Crooke, S.T.
Evaluating human mutation databases for ‘Treatability’ using personalized antisense oligonucleotides
Mittal, S., Tang, I., Gleeson, J.G.
