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

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

por De Franco, E, Shaw-Smith, C, Flanagan, S E, Edghill, E L, Wolf, J, Otte, V, Ebinger, F, Varthakavi, P, Vasanthi, T, Edvardsson, S, Hattersley, A T, Ellard, S
Publicado 2013

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

Expanding the Clinical Spectrum Associated With GLIS3 Mutations

por Dimitri, P., Habeb, A. M., Garbuz, F., Millward, A., Wallis, S., Moussa, K., Akcay, T., Taha, D., Hogue, J., Slavotinek, A., Wales, J. K. H., Shetty, A., Hawkes, D., Hattersley, A. T., Ellard, S., De Franco, E.
Publicado 2015