Improving outcomes for individuals and families affected by genetic disease

Status	Finished
Effective start/end date	1/01/17 → 31/12/21

Access Project

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
Mavillard, F., Servian-Morilla, E., Dofash, L., Rojas-Marcos, I., Folland, C., Monahan, G., Gutierrez-Gutierrez, G., Rivas, E., Hernández-Lain, A., Valladares, A., Cantero, G., Morales, J. M., Laing, N. G., Paradas, C., Ravenscroft, G. & Cabrera-Serrano, M., 1 Dec 2023, In: Brain. 146, 12, p. 5235-5248 14 p., awad256.
Research output: Contribution to journal › Article › peer-review
1 Citation (Scopus)
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
Dofash, L. N. H., Monahan, G., Servian-Morilla, E., Rivas, E., Faiz, F., Sullivan, P., Oates, E., Clayton, J., Taylor, R. L., Davis, M. R., Beilharz, T., Laing, N. G., Cabrera-Serrano, M. & Ravenscroft, G., 1 Apr 2023, In: Human Molecular Genetics. 32, 7, p. 1127-1136 10 p.
Research output: Contribution to journal › Article › peer-review
5 Citations (Scopus)
Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis
Ghaoui, R., Ha, T. T., Kerkhof, J., McConkey, H., Gao, S., Babic, M., King, R., Ravenscroft, G., Koszyca, B., Otto, S., Laing, N. G., Scott, H., Sadikovic, B. & Kassahn, K. S., Jun 2023, In: Neuromuscular Disorders. 33, 6, p. 484-489 6 p.
Research output: Contribution to journal › Article › peer-review
2 Citations (Scopus)