Ellard, Sian - University of Exeter

个人简介

Sian is Professor of Genomic Medicine at the University of Exeter Medical School and also a Consultant Clinical Scientist at the Royal Devon and Exeter NHS Foundation Trust where she heads the Molecular Genetics Department. She came to Exeter in 1995 to set up a Molecular Genetics Laboratory providing a core facility for integrated research and diagnostic genetic testing. The laboratory receives samples from >75 countries throughout the world and is acclaimed for both its research into monogenic disorders and the translation of its research discoveries into diagnostic service.

研究领域

Research interests include monogenic diabetes (with Professor Andrew Hattersley), congenital hyperinsulinism and applying next generation sequencing technology for disease gene discovery and improved diagnostic tests.

近期论文

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Ellard S, Flanagan SE, De Franco E, Lango Allen H, Zera M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, et al (In Press). Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Meatabolism Full text. Hattersley AT, Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Flanagan SE, Ellard S (In Press). Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. Journal of Pediatric Endocrinoyl Metabolism Full text. Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, et al (2016). Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes, 17(5), 360-367. Abstract. Author URL. Full text. Article has an altmetric score of 3 Thomas ER, Brackenridge A, Kidd J, Kariyawasam D, Carroll P, Colclough K, Ellard S (2016). Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. Journal of Diabetes Investigation, 7(3), 332-337. Abstract. Article has an altmetric score of 1 Deeb A, Habeb A, Kaplan W, Attia S, Hadi S, Osman A, Al-Jubeh J, Flanagan S, DeFranco E, Ellard S, et al (2016). Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates. Am J Med Genet A, 170(3), 602-609. Abstract. Author URL. Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN (2016). Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep, 6 Abstract. Author URL. Article has an altmetric score of 4 Owens M, Kivuva E, Quinn A, Brennan P, Caswell R, Lango Allen H, Vaidya B, Ellard S (2016). SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. Clin Endocrinol (Oxf), 84(5), 715-719. Abstract. Author URL. Article has an altmetric score of 1 Antosik K, Gnys P, De Franco E, Borowiec M, Mysliwiec M, Ellard S, Mlynarski W (2016). Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology. Acta Diabetol, 53(2), 337-338. Author URL. Rodd C, Millette M, Iacovazzo D, Stiles CE, Barry S, Evanson J, Albrecht S, Caswell R, Bunce B, Jose S, et al (2016). Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management. J Clin Endocrinol Metab, 101(5), 1927-1930. Abstract. Author URL. Article has an altmetric score of 2 Bacon S, Kyithar MP, Rizvi SR, Donnelly E, McCarthy A, Burke M, Colclough K, Ellard S, Byrne MM (2016). Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort. Diabet Med, 33(7), 976-984. Abstract. Author URL. Article has an altmetric score of 4 Yew TW, McCreight L, Colclough K, Ellard S, Pearson ER (2016). tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. Diabet Med, 33(9), e21-e25. Abstract. Author URL. Çamtosun E, Flanagan SE, Ellard S, Siklar Z, Hussain K, Kocaay P, Berberoglu M (2015). A deep intronic HADH splicing mutation (c.636+471G>T) in a congenital hyperinsulinemic hypoglycemia case: Long term clinical course. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 7(2), 144-147. Abstract. Full text. Harel S, Cohen ASA, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JBW, Van Karnebeek C, Kurata H, et al (2015). Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. Journal of Pediatric Endocrinology and Metabolism, 28(3-4), 345-351. Abstract. Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H (2015). An exome sequencing strategy to diagnose lethal autosomal recessive disorders. European Journal of Human Genetics, 23(3), 401-404. Abstract. Article has an altmetric score of 7 Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H (2015). An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet, 23(3), 401-404. Abstract. Author URL. Article has an altmetric score of 7 Clissold R, Shields B, Ellard S, Hattersley A, Bingham C (2015). Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. Nephron, 130(2), 134-140. Abstract. Author URL. Full text. Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. European Journal of Human Genetics, 23(12), 1744-1748. Abstract. Article has an altmetric score of 11 Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12), 1744-1748. Abstract. Author URL. Full text. Article has an altmetric score of 11 Demirbilek H, Arya VB, Ozbek MN, Houghton JA, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, et al (2015). Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol, 172(6), 697-705. Abstract. Author URL. Full text.