Temple, I. Karen

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

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

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

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

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

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., et al. (2014) · Brain

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 109

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

A survey ofTWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

Elanko, N., Sibbring, J. S., Metcalfe, K. A., Clayton-Smith, J., Donnai, D., Temple, I. K., Wall, S. A., & Wilkie, A. O. M. (2001) · Human Mutation

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 41

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30