Ellard, Sian

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

Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene

Steele, A. M., Shields, B. M., Shepherd, M., Ellard, S., Hattersley, A. T., & Pearson, E. R. (2010) · Diabetic Medicine

Diabetes and associated disordersDiabetes, Cardiovascular Risks, and Lipoproteins

Cited by 130

Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5-year pediatric Swedish National Cohort Study

Carlsson, A., Shepherd, M., Ellard, S., Weedon, M., Lernmark, Å., Forsander, G., Colclough, K., Brahimi, Q., Valtonen-Andre, C., Ivarsson, S. A., et al. (2020) · Diabetes Care

Diabetes and associated disordersPancreatic function and diabetes

Cited by 111

Insights into the Structure and Regulation of Glucokinase from a Novel Mutation (V62M), Which Causes Maturity-onset Diabetes of the Young

Gloyn, A. L., Odili, S., Zelent, D., Buettger, C., Castleden, H. A. J., Steele, A. M., Stride, A., Shiota, C., Magnuson, M. A., Lorini, R., et al. (2005) · Journal of Biological Chemistry

Pancreatic function and diabetesGlycogen Storage Diseases and Myoclonus

Cited by 108

High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes

McDonald, T. J., Shields, B. M., Lawry, J., Owen, K. R., Gloyn, A. L., Ellard, S., & Hattersley, A. T. (2011) · Diabetes Care

Diabetes and associated disordersPancreatic function and diabetes

Cited by 105

Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes

Babiker, T., Vedovato, N., Patel, K., Thomas, N., Finn, R., Männikkö, R., Chakera, A. J., Flanagan, S. E., Shepherd, M. H., Ellard, S., et al. (2016) · Diabetologia

Pancreatic function and diabetesIon channel regulation and function

Cited by 90

An exome sequencing strategy to diagnose lethal autosomal recessive disorders

Ellard, S., Kivuva, E., Turnpenny, P., Stals, K., Johnson, M., Xie, W., Caswell, R., & Lango Allen, H. (2015) · European Journal of Human Genetics

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 59

De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction

De Franco, E., Caswell, R., Johnson, M. B., Wakeling, M. N., Zung, A., Dũng, V. C., Bích Ngọc, C. T., Goonetilleke, R., Vivanco Jury, M., El-Khateeb, M., et al. (2020) · Diabetes

Diabetes and associated disordersPancreatic function and diabetes

Cited by 39

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

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13