Sian Ellard

ORCID

Publication Activity (10 Years)

Years Active: 2018-2022
Publications (10 Years): 14

Top Venues

Wellcome open research

Journal of clinical research in pediatric endocrinology

Annals of neurology

Human mutation

Royal Devon and Exeter NHS Foundation Trust

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Royal Devon and Exeter NHS Foundation Trust

United Kingdom

Consultant Molecular Geneticist, Head of Molecular Genetics Dept :: Molecular Genetics

University of Exeter Medical School

United Kingdom

Professor of Genomic Medicine :: Medical School

University of Exeter Medical School

United Kingdom

Senior Lecturer in Molecular Genetics :: Institute of Biomedical and Clinical Science

University of Exeter Medical School

United Kingdom

Lecturer in Molecular Genetics :: Postgraduate Medical School

Royal Devon and Exeter NHS Foundation Trust

United Kingdom

Principal Clinical Molecular Geneticist :: Molecular Genetics Laboratory

Swansea University Department of Biosciences

United Kingdom

Postdoctoral Research Fellow :: Molecular Biology Research Group

Publications

Thomas W Laver, Elisa De Franco, Matthew B Johnson, Kashyap Amratlal Patel, Sian Ellard, Michael N Weedon, Sarah E. Flanagan, Matthew N Wakeling
SavvyCNV: Genome-wide CNV calling from off-target reads. PLoS computational biology 18 (3) (2022)
Anne Schänzer, Melanie T Achleitner, Dietrich Trümbach, Laurence Hubert, Arnold Munnich, Barbara Ahlemeyer, Maha M AlAbdulrahim, Philipp A Greif, Sebastian Vosberg, Blake Hummer, René Günther Feichtinger, Johannes A Mayr, Saskia B Wortmann, Heidi Aichner, Sabine Rudnik-Schöneborn, Anna Ruiz, Elisabeth Gabau, Jacobo Pérez Sánchez, Sian Ellard, Tessa Homfray, Karen L Stals, Wolfgang Wurst, Bernd A Neubauer, Till Acker, Stefan K Bohlander, Cédric Asensio, Claude Besmond, Fowzan Sami Alkuraya, Moenaldeen D AlSayed, Andreas Hahn, Axel Weber
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. Annals of neurology 90 (1) (2021)
Gregor Sachse, Elizabeth Haythorne, Peter Proks, Michelle Stewart, Heather L Cater, Sian Ellard, Benjamin Davies, Frances M Ashcroft
Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice. Wellcome open research 5 (2021)
Elisa De Franco, Cécile Saint-Martin, Klaus Brusgaard, Amy E Knight Johnson, Lydia Aguilar-Bryan, Pamela Bowman, Jean-Baptiste Arnoux, Annette Rønholt Larsen, May Sanyoura, Siri Atma W Greeley, Raúl Calzada-León, Bradley Harman, Jayne A L Houghton, Elisa Nishimura-Meguro, Thomas W Laver, Sian Ellard, Daniela Del Gaudio, Henrik Thybo Christesen, Christine Bellanné-Chantelot, Sarah E. Flanagan
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes. Human mutation 41 (5) (2020)
Yasemin Denkboy Ongen, Erdal Eren, Özgecan Demirbaş, Elif Söbü, Sian Ellard, Elisa De Franco, Ömer Tarım
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey Journal of clinical research in pediatric endocrinology 13 (1) (2020)
Gregor Sachse, Elizabeth Haythorne, Peter Proks, Michelle Stewart, Heather L Cater, Sian Ellard, Benjamin Davies, Frances M Ashcroft
Phenotype of a transient neonatal diabetes point mutation (SUR1-R1183W) in mice. Wellcome open research 5 (2020)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. Wellcome open research 4 (2020)
Richard C Caswell, Martina M Owens, Adam C Gunning, Sian Ellard, Caroline Fiona Wright
Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1. Journal of the Endocrine Society 3 (12) (2019)
Matthew N Wakeling, Thomas W Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L Baple
Misannotation of multiple-nucleotide variants risks misdiagnosis. Wellcome open research 4 (2019)
Caroline Fiona Wright, James Simon Ware, Anneke M Lucassen, Alison Hall, Middleton Anna, Nazneen Rahman, Sian Ellard, Helen V Firth
Genomic variant sharing: a position statement. Wellcome open research 4 (2019)
Indraneel Banerjee, Senthil Senniappan, Thomas W Laver, Richard C Caswell, Martin Zenker, Klaus Mohnike, Tim Cheetham, Matthew N Wakeling, Dunia Ismail, Belinda Lennerz, Miranda Splitt, Merih Berberoğlu, Susann Empting, Martin Wabitsch, Simone Pötzsch, Prateek Shanmugananda, Zeynep Siklar, Charles F Verge, Michael N Weedon, Sian Ellard, Khalid Hussain, Sarah E. Flanagan
Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome. Wellcome open research (2019)
Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew N Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series. Wellcome open research 3 (2018)
Emregül Işık, Hüseyin Demirbilek, Jayne A L Houghton, Sian Ellard, Sarah E. Flanagan, Khalid Hussain
Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation Journal of clinical research in pediatric endocrinology 11 (1) (2018)
Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew N Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling using the ICR142 NGS validation series. Wellcome open research (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Sian Ellard