Mackay, Deborah

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Gloyn, A. L., Pearson, E. R., Antcliff, J. F., Proks, P., Bruining, G. J., Slingerland, A. S., Howard, N., Srinivasan, S., Silva, J. M. C. L., Molnes, J., et al. (2004) · New England Journal of Medicine

Pancreatic function and diabetesIon channel regulation and function

Cited by 1,137

The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

De Franco, E., Flanagan, S. E., Houghton, J. A., Allen, H. L., Mackay, D. J., Temple, I. K., Ellard, S., & Hattersley, A. T. (2015) · The Lancet

Pancreatic function and diabetesDiabetes and associated disorders

Cited by 349

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

Ellard, S., Flanagan, S. E., Girard, C. A., Patch, A.-M., Harries, L. W., Parrish, A., Edghill, E. L., Mackay, D. J. G., Proks, P., Shimomura, K., et al. (2007) · The American Journal of Human Genetics

Pancreatic function and diabetesIon channel regulation and function

Cited by 215

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., et al. (2019) · Cell

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 177

Insights Into the Molecular Mechanism for Type 2 Diabetes Susceptibility at the KCNQ1 Locus From Temporal Changes in Imprinting Status in Human Islets

Travers, M. E., Mackay, D. J. G., Dekker Nitert, M., Morris, A. P., Lindgren, C. M., Berry, A., Johnson, P. R., Hanley, N., Groop, L. C., McCarthy, M. I., et al. (2013) · Diabetes

Genetic Syndromes and ImprintingPancreatic function and diabetes

Cited by 118

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14

Temple, I. K., Shrubb, V, Lever, M., Bullman, H., & Mackay, D. J. G. (2007) · Journal of Medical Genetics

Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities

Cited by 63