Ellard, Sian

A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity

Frayling, T. M., Timpson, N. J., Weedon, M. N., Zeggini, E., Freathy, R. M., Lindgren, C. M., Perry, J. R. B., Elliott, K. S., Lango, H., Rayner, N. W., et al. (2007) · Science

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 4,531

Replication of Genome-Wide Association Signals in UK Samples Reveals Risk Loci for Type 2 Diabetes

Zeggini, E., Weedon, M. N., Lindgren, C. M., Frayling, T. M., Elliott, K. S., Lango, H., Timpson, N. J., Perry, J. R. B., Rayner, N. W., Freathy, R. M., et al. (2007) · Science

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 2,194

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

SARS-CoV-2 evolution during treatment of chronic infection

Kemp, S. A., Collier, D. A., Datir, R. P., Ferreira, I. A. T. M., Gayed, S., Jahun, A., Hosmillo, M., Rees-Spear, C., Mlcochova, P., Lumb, I. U., et al. (2021) · Nature

SARS-CoV-2 and COVID-19 ResearchCOVID-19 Clinical Research Studies

Cited by 1,097

Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity

Volz, E., Hill, V., McCrone, J. T., Price, A., Jorgensen, D., O’Toole, Á., Southgate, J., Johnson, R., Jackson, B., Nascimento, F. F., et al. (2021) · Cell

SARS-CoV-2 and COVID-19 ResearchEvolution and Genetic Dynamics

Cited by 1,006

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations

Pearson, E. R., Flechtner, I., Njølstad, P. R., Malecki, M. T., Flanagan, S. E., Larkin, B., Ashcroft, F. M., Klimes, I., Codner, E., Iotova, V., et al. (2006) · New England Journal of Medicine

Pancreatic function and diabetesIon channel regulation and function

Cited by 988

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Collier, D. A., De Marco, A., Ferreira, I. A. T. M., Meng, B., Datir, R. P., Walls, A. C., Kemp, S. A., Bassi, J., Pinto, D., Silacci-Fregni, C., et al. (2021) · Nature

SARS-CoV-2 and COVID-19 ResearchAnimal Virus Infections Studies

Cited by 728

Maturity-onset diabetes of the young (MODY): how many cases are we missing?

Shields, B. M., Hicks, S., Shepherd, M. H., Colclough, K., Hattersley, A. T., & Ellard, S. (2010) · Diabetologia

Diabetes and associated disordersPancreatic function and diabetes

Cited by 725

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Pejaver, V., Byrne, A. B., Feng, B.-J., Pagel, K. A., Mooney, S. D., Karchin, R., O’Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., et al. (2022) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 589

Insulin gene mutations as a cause of permanent neonatal diabetes

Støy, J., Edghill, E. L., Flanagan, S. E., Ye, H., Paz, V. P., Pluzhnikov, A., Below, J. E., Hayes, M. G., Cox, N. J., Lipkind, G. M., et al. (2007) · Proceedings of the National Academy of Sciences

Pancreatic function and diabetesDiabetes and associated disorders

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Clinical implications of a molecular genetic classification of monogenic β-cell diabetes

Murphy, R., Ellard, S., & Hattersley, A. T. (2008) · Nature Clinical Practice Endocrinology & Metabolism

Pancreatic function and diabetesDiabetes and associated disorders

Cited by 502

Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth

Pihoker, C., Gilliam, L. K., Ellard, S., Dabelea, D., Davis, C., Dolan, L. M., Greenbaum, C. J., Imperatore, G., Lawrence, J. M., Marcovina, S. M., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism

Diabetes and associated disordersPancreatic function and diabetes

Cited by 397

Insulin Mutation Screening in 1,044 Patients With Diabetes

Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., et al. (2008) · Diabetes

Diabetes and associated disordersPancreatic function and diabetes

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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

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ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

Hattersley, A. T., Greeley, S. A. W., Polak, M., Rubio-Cabezas, O., Njølstad, P. R., Mlynarski, W., Castano, L., Carlsson, A., Raile, K., Chi, D. V., et al. (2018) · Pediatric Diabetes

Diabetes and associated disordersDiabetes Management and Research

Cited by 319

Changes in symptomatology, reinfection, and transmissibility associated with the SARS-CoV-2 variant B.1.1.7: an ecological study

Graham, M. S., Sudre, C. H., May, A., Antonelli, M., Murray, B., Varsavsky, T., Kläser, K., Canas, L. S., Molteni, E., Modat, M., et al. (2021) · The Lancet Public Health

SARS-CoV-2 and COVID-19 ResearchCOVID-19 epidemiological studies

Cited by 304

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

Kapoor, R. R., Flanagan, S. E., Arya, V. B., Shield, J. P., Ellard, S., & Hussain, K. (2013) · European Journal of Endocrinology

Pancreatic function and diabetesDiabetes and associated disorders

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Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the U.K. pediatric diabetes population with monogenic diabetes

Shepherd, M., Shields, B., Hammersley, S., Hudson, M., McDonald, T. J., Colclough, K., Oram, R. A., Knight, B., Hyde, C., Cox, J., et al. (2016) · Diabetes Care

Diabetes and associated disordersPancreatic function and diabetes

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Prospective functional classification of all possible missense variants in PPARG

UK Monogenic Diabetes Consortium, Majithia, A. R., Myocardial Infarction Genetics Consortium, UK Congenital Lipodystrophy Consortium, Tsuda, B., Agostini, M., Gnanapradeepan, K., Rice, R., Peloso, G., Patel, K. A., et al. (2016) · Nature Genetics

Genomics and Rare DiseasesPeroxisome Proliferator-Activated Receptors

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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

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Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

Garin, I., Edghill, E. L., Akerman, I., Rubio-Cabezas, O., Rica, I., Locke, J. M., Maestro, M. A., Alshaikh, A., Bundak, R., del Castillo, G., et al. (2010) · Proceedings of the National Academy of Sciences

Pancreatic function and diabetesDiabetes and associated disorders

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The diagnosis and management of monogenic diabetes in children and adolescents

Rubio-Cabezas, O., Hattersley, A. T., Njølstad, P. R., Mlynarski, W., Ellard, S., White, N., Chi, D. V., & Craig, M. E. (2014) · Pediatric Diabetes

Diabetes and associated disordersPancreatic function and diabetes

Cited by 196

AIP Mutation in Pituitary Adenomas in the 18th Century and Today

Chahal, H. S., Stals, K., Unterländer, M., Balding, D. J., Thomas, M. G., Kumar, A. V., Besser, G. M., Atkinson, A. B., Morrison, P. J., Howlett, T. A., et al. (2011) · New England Journal of Medicine

Pituitary Gland Disorders and TreatmentsGrowth Hormone and Insulin-like Growth Factors

Cited by 163

Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients

Shields, B. M., Shepherd, M., Hudson, M., McDonald, T. J., Colclough, K., Peters, J., Knight, B., Hyde, C., Ellard, S., Pearson, E. R., et al. (2017) · Diabetes Care

Diabetes and associated disordersPancreatic function and diabetes

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