Publications by authors named "Sian Ellard"

100Publications

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.

Am J Hum Genet 2020 Oct 9;107(4):670-682. Epub 2020 Sep 9.

Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK; Division of Endocrinology, Department of Pediatrics, Stanford School of Medicine, Stanford University, Stanford, CA 94305-5101, USA.

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http://dx.doi.org/10.1016/j.ajhg.2020.08.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536579PMC
October 2020

Assessing performance of pathogenicity predictors using clinically relevant variant datasets.

J Med Genet 2020 Aug 25. Epub 2020 Aug 25.

College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK

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http://dx.doi.org/10.1136/jmedgenet-2020-107003DOI Listing
August 2020

Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.

J Clin Res Pediatr Endocrinol 2020 Aug 21. Epub 2020 Aug 21.

Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

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http://dx.doi.org/10.4274/jcrpe.galenos.2020.2020.0093DOI Listing
August 2020

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

Am J Med Genet A 2020 Oct 11;182(10):2403-2408. Epub 2020 Aug 11.

Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.

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http://dx.doi.org/10.1002/ajmg.a.61781DOI Listing
October 2020

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.

J Clin Endocrinol Metab 2020 Jun;105(6)

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1210/clinem/dgaa040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137887PMC
June 2020

Misannotation of multiple-nucleotide variants risks misdiagnosis.

Wellcome Open Res 2019 1;4:145. Epub 2019 Oct 1.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, EX2 5DW, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.15420.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957021PMC
October 2019

Genomic variant sharing: a position statement.

Wellcome Open Res 2019 5;4:22. Epub 2019 Feb 5.

Department of Clinical Genetics, University of Cambridge Addenbrooke's Hospital Cambridge, Cambridge, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.15090.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913213PMC
February 2019

Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes.

J Clin Invest 2020 01;130(1):14-16

Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, United Kingdom.

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http://dx.doi.org/10.1172/JCI133516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6934181PMC
January 2020

Using Structural Analysis to Assess the Impact of Missense Variants in MEN1.

J Endocr Soc 2019 Dec 27;3(12):2258-2275. Epub 2019 Sep 27.

Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, United Kingdom.

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http://dx.doi.org/10.1210/js.2019-00260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6846327PMC
December 2019

A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype.

Clin Dysmorphol 2020 Apr;29(2):114-117

North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow.

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http://dx.doi.org/10.1097/MCD.0000000000000306DOI Listing
April 2020

A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome.

Clin Dysmorphol 2020 Jan;29(1):69-72

Ehlers-Danlos Syndrome National Diagnostic Service London, North West Thames Regional Genetic Service, North West Health Care University NHS Trust, Harrow, Middlesex.

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http://dx.doi.org/10.1097/MCD.0000000000000304DOI Listing
January 2020

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.

Hum Mol Genet 2019 11;28(21):3543-3551

Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1093/hmg/ddz200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927460PMC
November 2019

The role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic review.

Clin Endocrinol (Oxf) 2019 12 29;91(6):697-707. Epub 2019 Jul 29.

Department of Head and Neck Surgery, Royal Devon and Exeter Hospital, Exeter, UK.

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http://dx.doi.org/10.1111/cen.14060DOI Listing
December 2019

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.

Eur J Med Genet 2020 Feb 23;63(2):103657. Epub 2019 Apr 23.

Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.04.014DOI Listing
February 2020

Sirolimus: Efficacy and Complications in Children With Hyperinsulinemic Hypoglycemia: A 5-Year Follow-Up Study.

J Endocr Soc 2019 Apr 7;3(4):699-713. Epub 2019 Feb 7.

Endocrinology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1210/js.2018-00417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411415PMC
April 2019

Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation.

Endocrinol Diabetes Metab Case Rep 2019 Feb 11;2019. Epub 2019 Feb 11.

Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1530/EDM-18-0120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6373619PMC
February 2019

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

Eur J Hum Genet 2019 04 8;27(4):657-662. Epub 2019 Jan 8.

Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://www.nature.com/articles/s41431-018-0306-0
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http://dx.doi.org/10.1038/s41431-018-0306-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420058PMC
April 2019

Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Clin Endocrinol (Oxf) 2018 11 20;89(5):621-627. Epub 2018 Sep 20.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1111/cen.13841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283248PMC
November 2018

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

Pediatr Diabetes 2018 10;19 Suppl 27:47-63

The Children's Hospital at Westmead and Discipline of Child Health and Adolescent Health, University of Sydney, Sydney, Australia.

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http://doi.wiley.com/10.1111/pedi.12772
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http://dx.doi.org/10.1111/pedi.12772DOI Listing
October 2018

Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.

Clin Kidney J 2018 Aug 30;11(4):453-458. Epub 2018 Jan 30.

Exeter Kidney Unit, Royal Devon and Exeter National Health Service Foundation Trust, Exeter, UK.

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http://dx.doi.org/10.1093/ckj/sfx150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070112PMC
August 2018

Response to Letter to the Editor: "p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer".

J Clin Endocrinol Metab 2018 09;103(9):3518-3519

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, United Kingdom.

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http://dx.doi.org/10.1210/jc.2018-01094DOI Listing
September 2018

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy.

J Clin Endocrinol Metab 2018 09;103(9):3225-3230

Institute of Biomedical & Clinical Science, University of Exeter, Exeter, United Kingdom.

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http://dx.doi.org/10.1210/jc.2017-02662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126890PMC
September 2018

Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.

J Pediatr Endocrinol Metab 2018 Aug;31(8):943-945

Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1515/jpem-2018-0112DOI Listing
August 2018

The Common Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Diabetes 2018 09 12;67(9):1903-1907. Epub 2018 Jun 12.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, University of Exeter, Exeter, U.K.

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http://dx.doi.org/10.2337/db18-0133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109380PMC
September 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death.

Pediatr Dev Pathol 2019 Jan-Feb;22(1):65-69. Epub 2018 Mar 20.

4 Department of Paediatric Histopathology, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1177/1093526618765376DOI Listing
March 2019

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Pediatr Diabetes 2018 08 27;19(5):898-904. Epub 2018 Mar 27.

Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.

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http://dx.doi.org/10.1111/pedi.12669DOI Listing
August 2018

Risk category system to identify pituitary adenoma patients with mutations.

J Med Genet 2018 04 10;55(4):254-260. Epub 2018 Feb 10.

Centre of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2017-104957DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869708PMC
April 2018

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation.

J Pediatr Endocrinol Metab 2018 Mar;31(3):345-348

Department of Pediatric Endocrinology and Metabolism, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.

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http://dx.doi.org/10.1515/jpem-2017-0325DOI Listing
March 2018

Correction: Reinauer et al., The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes 2017, 8, 146.

Genes (Basel) 2018 01 3;9(1). Epub 2018 Jan 3.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/genes9010013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793166PMC
January 2018

Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia

J Clin Res Pediatr Endocrinol 2018 07 8;10(3):279-283. Epub 2017 Dec 8.

University of Health Sciences, Diyarbakır Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey

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http://dx.doi.org/10.4274/jcrpe.5335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083472PMC
July 2018

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Exp Clin Endocrinol Diabetes 2018 Nov 28;126(10):612-618. Epub 2017 Nov 28.

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0043-120571DOI Listing
November 2018

A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

J Clin Res Pediatr Endocrinol 2018 06 25;10(2):175-178. Epub 2017 Sep 25.

University of Athens, 2nd Department of Pediatrics, “P&A Kyriakou” Children’s Hospital, Diabetes and Metabolism Unit, Athens, Greece

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http://dx.doi.org/10.4274/jcrpe.5166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985388PMC
June 2018

Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement.

Diabetologia 2017 Nov 5;60(11):2168-2173. Epub 2017 Aug 5.

National Institute for Health Research (NIHR) Exeter Clinical Research Facility, University of Exeter, Exeter, UK.

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http://dx.doi.org/10.1007/s00125-017-4383-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907681PMC
November 2017

Fainting Fanconi syndrome clarified by proxy: a case report.

BMC Nephrol 2017 Jul 11;18(1):230. Epub 2017 Jul 11.

Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1186/s12882-017-0649-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5504823PMC
July 2017

Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India.

Indian Pediatr 2017 Jun;54(6):467-471

Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, New Delhi, and *Madras Diabetes Research Foundation, Chennai, India; and #Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. Correspondence to: Prof. Vandana Jain, Division of Pediatric Endocrinology, Department of Pediatrics, AIIMS, Delhi-110 029, India.

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http://dx.doi.org/10.1007/s13312-017-1049-7DOI Listing
June 2017

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):274-277. Epub 2017 Jun 30.

Federal University of São Paulo, Paulista School of Medicine, Division of Endocrinology, São Paulo, Brazil.

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http://cms.galenos.com.tr/Uploads/Article_1897/JCRPE-9-274.p
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http://dx.doi.org/10.4274/jcrpe.4494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596810PMC
September 2017

An Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression.

J Clin Res Pediatr Endocrinol 2017 Sep 30;9(3):260-264. Epub 2017 Jun 30.

University of Exeter Medical School, Institute of Biomedical and Clinical Science, Department of Molecular Genetics, Exeter, United Kingdom.

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http://dx.doi.org/10.4274/jcrpe.4624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5596808PMC
September 2017

The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype.

Genes (Basel) 2017 May 19;8(5). Epub 2017 May 19.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/genes8050146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448020PMC
May 2017

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Metabolism 2017 06 28;71:213-225. Epub 2017 Mar 28.

Aix Marseille Univ, INSERM, GMGF, Marseille, France; Department of Medical Genetics, Molecular genetics Laboratory, La Timone Children's Hospital, 264 Rue Saint Pierre, 13005, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.metabol.2017.03.011DOI Listing
June 2017

Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.

J Pediatr Endocrinol Metab 2017 Apr;30(4):471-474

Genetics and Epigenetics in Health and Disease Genetics and Genomic Medicine Programme, UCL Institute Child Health, London.

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http://dx.doi.org/10.1515/jpem-2016-0345DOI Listing
April 2017

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Diagn Pathol 2017 Jan 3;12(1). Epub 2017 Jan 3.

Division of Pediatric Endocrinology Montreal Children's Hospital, McGill University Health Centre, 1001 Boulevard Decarie, Montreal, H4A 3J1, Quebec, Canada.

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http://dx.doi.org/10.1186/s13000-016-0592-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209893PMC
January 2017