Sian Ellard

Research.com Recognitions

• 2025 - Research.com Best Female Scientists Award

Overview

Best Publications

• A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

  Timothy M. Frayling;Nicholas J. Timpson;Michael N. Weedon;Eleftheria Zeggini;Eleftheria Zeggini;Eleftheria Zeggini

  7163
  Citations

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

  Eleftheria Zeggini;Michael N. Weedon;Cecilia M. Lindgren;Timothy M. Frayling

  2665
  Citations

• Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes

  Anna L Gloyn;Ewan R. Pearson;Jennifer F. Antcliff;Peter Proks

  1415
  Citations

• Assessing transmissibility of SARS-CoV-2 lineage B.1.1.7 in England.

  Erik Volz;Swapnil Mishra;Meera Chand;Jeffrey C. Barrett

  1164
  Citations

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

  Ewan R Pearson;Isabelle Flechtner;Pål R Njølstad;Maciej T Malecki

  1142
  Citations

• SARS-CoV-2 evolution during treatment of chronic infection.

  Steven A. Kemp;Dami A. Collier;Dami A. Collier;Rawlings P. Datir;Isabella A. T. M. Ferreira

  973
  Citations

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

  Beverley Shields;S. Hicks;Maggie Shepherd;K. Colclough

  814
  Citations

• Mutations in the glucokinase gene of the fetus result in reduced birth weight.

  Andrew T. Hattersley;Frances Beards;Elizabeth Ballantyne;Maggie Appleton

  810
  Citations

• Insulin gene mutations as a cause of permanent neonatal diabetes

  Julie Støy;Emma L. Edghill;Sarah E. Flanagan;Honggang Ye

  669
  Citations

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

  Dami A. Collier;Dami A. Collier;Anna De Marco;Isabella A. T. M. Ferreira;Bo Meng

  656
  Citations

• Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

  Rinki Murphy;Sian Ellard;Andrew T Hattersley

  619
  Citations

• Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

  Kara K. Osbak;Kevin Colclough;Cecile Saint-Martin;Nicola L. Beer

  559
  Citations

• Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

  Deborah J G Mackay;Deborah J G Mackay;Jonathan L A Callaway;Jonathan L A Callaway;Sophie M Marks;Helen E White

  558
  Citations

• Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young

  S Ellard;Christine Bellanné-Chantelot;Andrew T Hattersley

  528
  Citations

• Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene

  Ewan R Pearson;Sylvia F Boj;Anna M Steele;Timothy Barrett

  508
  Citations

• Insulin Mutation Screening in 1,044 Patients With Diabetes: Mutations in the INS Gene Are a Common Cause of Neonatal Diabetes but a Rare Cause of Diabetes Diagnosed in Childhood or Adulthood

  Emma L. Edghill;Sarah E. Flanagan;Ann-Marie Patch;Chris Boustred

  502
  Citations

• Hospital admission and emergency care attendance risk for SARS-CoV-2 delta (B.1.617.2) compared with alpha (B.1.1.7) variants of concern: a cohort study.

  Katherine A Twohig;Tommy Nyberg;Asad Zaidi;Simon Thelwall

  501
  Citations

• Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

  Sarah E Flanagan;Emma Haapaniemi;Mark A Russell;Richard Caswell

  494
  Citations

• Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis

  Michael P. Bulman;Kenro Kusumi;Timothy M. Frayling;Carole McKeown

  476
  Citations

• Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations

  Sarah E. Flanagan;Ann-Marie Patch;Sian Ellard

  442
  Citations