Analysis of cell‐free fetal DNA for non‐invasive prenatal diagnosis in a family with neonatal diabetes

por De Franco, E., Caswell, R., Houghton, J. A. L., Iotova, V., Hattersley, A. T., Ellard, S.
Publicado 2016

A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia

por Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S
Publicado 2017

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

por Ellard, S., Lango Allen, H., De Franco, E., Flanagan, S. E., Hysenaj, G., Colclough, K., Houghton, J. A. L., Shepherd, M., Hattersley, A. T., Weedon, M. N., Caswell, R.
Publicado 2013

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

por Low, KJ, Stals, K, Caswell, R, Wakeling, M, Clayton-Smith, J, Donaldson, A, Foulds, N, Norman, A, Splitt, M, Urankar, K, Vijayakumar, K, Majumdar, A, Study, DDD, Ellard, S, Smithson, SF
Publicado 2018