Sarah Ennis

Department of Human Genetics and Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, SO16 6YD, UK.

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January 2020

Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data.

Authors:

Alejandra Vergara-Lope M Reza Jabalameli Clare Horscroft Sarah Ennis Andrew Collins Reuben J Pengelly

Sci Data 2019 10 17;6(1):208. Epub 2019 Oct 17.

Human Genetics & Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

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October 2019

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Authors:

Luke O'Gorman Chelsea S Norman Luke Michaels Tutte Newall Andrew H Crosby Christopher Mattocks Angela J Cree Andrew J Lotery Emma L Baple J Arjuna Ratnayaka Diana Baralle Helena Lee Daniel Osborne Fatima Shawkat Jane Gibson Sarah Ennis Jay E Self

Sci Rep 2019 09 13;9(1):13229. Epub 2019 Sep 13.

Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, MP806, Tremona Road, Southampton, SO16 6YD, UK.

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September 2019

Review article: the genetics of the human leucocyte antigen region in inflammatory bowel disease.

Authors:

James J Ashton Katy Latham Robert Mark Beattie Sarah Ennis

Aliment Pharmacol Ther 2019 10 13;50(8):885-900. Epub 2019 Sep 13.

Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

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October 2019

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Authors:

Carolina Jaramillo Oquendo Helen Parker David Oscier Sarah Ennis Jane Gibson Jonathan C Strefford

Sci Rep 2019 07 18;9(1):10444. Epub 2019 Jul 18.

Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.

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July 2019

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions.

Authors:

Alejandra Vergara-Lope Sarah Ennis Igor Vorechovsky Reuben J Pengelly Andrew Collins

Eur J Hum Genet 2019 09 3;27(9):1436-1444. Epub 2019 May 3.

Human Genetics, Faculty of Medicine, University of Southampton, Duthie Building (808), Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.

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September 2019

AMD Risk Alleles Are Not Implicated in Age-Related Macular Degeneration in Patients with Liver Transplantation.

Authors:

Samir Khandhadia Jane Gibson Sarah Ennis Angela J Cree Andrew J Lotery

Ophthalmol Retina 2018 08 19;2(8):872-874. Epub 2018 Apr 19.

Southampton Eye Unit, University Hospital Southampton National Health Services Trust, Southampton, United Kingdom; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom. Electronic address:

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August 2018

Personalising medicine in inflammatory bowel disease-current and future perspectives.

Authors:

James J Ashton Enrico Mossotto Sarah Ennis R Mark Beattie

Transl Pediatr 2019 Jan;8(1):56-69

Department of Paediatric Gastroenterology, Southampton Children's Hospital, Southampton, UK.

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January 2019

Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.

Authors:

Luke O'Gorman Angela J Cree Daniel Ward Helen L Griffiths Roshan Sood Alastair K Denniston Jay E Self Sarah Ennis Andrew J Lotery Jane Gibson

Sci Rep 2019 02 28;9(1):3100. Epub 2019 Feb 28.

Biological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton, Southampton, UK.

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February 2019

Increased prevalence of anti-TNF therapy in paediatric inflammatory bowel disease is associated with a decline in surgical resections during childhood.

Authors:

James J Ashton Florina Borca Enrico Mossotto Tracy Coelho Akshay Batra Nadeem A Afzal Hang T T Phan Michael Stanton Sarah Ennis Robert Mark Beattie

Aliment Pharmacol Ther 2019 02 9;49(4):398-407. Epub 2019 Jan 9.

Department of Paediatric Gastroenterology, Southampton Children's Hospital, Southampton, UK.

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February 2019

Long term follow-up of a family with dominant cone dystrophy.

Authors:

Georgios Tsokolas Hussein Almuhtaseb Helen Griffiths Fatima Shawkat Reuben J Pengelly Ennis Sarah Andrew Lotery

Int J Ophthalmol 2018 18;11(12):1945-1950. Epub 2018 Dec 18.

Clinical and Experimental Sciences, University of Southampton, Southampton, Hampshire SO16 6YD, UK.

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December 2018

Analysis and Hierarchical Clustering of Blood Results Before Diagnosis in Pediatric Inflammatory Bowel Disease.

Authors:

James J Ashton Florina Borca Enrico Mossotto Hang T T Phan Sarah Ennis R Mark Beattie

Inflamm Bowel Dis 2020 02;26(3):469-475

Department of Paediatric Gastroenterology, Southampton Children's Hospital, Southampton, UK.

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February 2020

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Authors:

Christine Gast Anthony Marinaki Monica Arenas-Hernandez Sara Campbell Eleanor G Seaby Reuben J Pengelly Daniel P Gale Thomas M Connor David J Bunyan Kateřina Hodaňová Martina Živná Stanislav Kmoch Sarah Ennis G Venkat-Raman

BMC Nephrol 2018 10 30;19(1):301. Epub 2018 Oct 30.

Wessex Kidney Centre, Queen Alexandra Hospital, Portsmouth Hospitals NHS Trust, Southwick Hill Road, Cosham, Portsmouth, PO6 3LY, UK.

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October 2018

Clinical efficacy of eplerenone versus placebo for central serous chorioretinopathy: study protocol for the VICI randomised controlled trial.

Authors:

Abby Willcox Lucy Culliford Lucy Ellis Chris A Rogers Angela Cree Usha Chakravarthy Sarah Ennis Francine Behar-Cohen Barnaby C Reeves Sobha Sivaprasad Andrew Lotery

Eye (Lond) 2019 02 7;33(2):295-303. Epub 2018 Sep 7.

Department of Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, SO16 6YD, UK.

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February 2019

Early-onset paediatric inflammatory bowel disease.

Authors:

James J Ashton Sarah Ennis R Mark Beattie

Lancet Child Adolesc Health 2017 Oct 7;1(2):147-158. Epub 2017 Aug 7.

Department of Paediatric Gastroenterology, Southampton Children's Hospital, University Hospital Southampton, Southampton, UK. Electronic address:

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October 2017

Sequencing era methods for identifying signatures of selection in the genome.

Authors:

Clare Horscroft Sarah Ennis Reuben J Pengelly Timothy J Sluckin Andrew Collins

Brief Bioinform 2019 11;20(6):1997-2008

Genetic Epidemiology and Bioinformatics, Faculty of Medicine, University of Southampton, Duthie Building (808), Tremona Road, Southampton, UK.

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November 2019

Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei.

Authors:

Reuben J Pengelly Babatunde Rowaiye Karen Pickard Brendan Moran Sanjeev Dayal William Tapper Alex Mirnezami Tom Cecil Faheez Mohamed Norman Carr Sarah Ennis

J Mol Diagn 2018 09 22;20(5):635-642. Epub 2018 Jun 22.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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September 2018

Newton E. Morton (1929-2018).

Authors:

Stephanie L Sherman D C Rao Bronya J Keats Shirley Yee M Anne Spence Terry J Hassold Aravinda Chakravarti Robert C Elston John A Crolla Sarah Ennis Neil Risch

Am J Hum Genet 2018 Jun 8;102(6):1011-1017. Epub 2018 Jun 8.

Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94158, USA; Kaiser Permanente Northern California, Division of Research, Oakland, CA 94612, USA. Electronic address:

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June 2018

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With .

Authors:

Catherine L Mercer Gaia Andreoletti Aisling Carroll Anthony P Salmon I Karen Temple Sarah Ennis

Circ Cardiovasc Genet 2017 Dec;10(6)

From the Wessex Clinical Genetics Service (C.L.M., I.K.T.) and Wessex Cardiac Unit (A.C., A.P.S.), University Hospital Southampton National Health Service Foundation Trust, United Kingdom; and Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, United Kingdom (G.A., I.K.T., S.E.).

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December 2017

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

Authors:

Kesava A Ramakrishnan William Rae Gabriela Barcenas-Morales Yifang Gao Reuben J Pengelly Sanjay V Patel Dinakantha S Kumararatne Sarah Ennis Rainer Döffinger Saul N Faust Anthony P Williams

J Allergy Clin Immunol 2018 04 7;141(4):1479-1482.e6. Epub 2017 Dec 7.

Faculty of Medicine and Institute for Life Sciences, University of Southampton, Southampton, United Kingdom; Department of Allergy, Asthma and Clinical Immunology, University Hospital Southampton, Southampton, United Kingdom; CRUK NIHR Experimental Cancer Medicine Centre, Southampton, United Kingdom; WISH Laboratory University Hospital Southampton NHS Foundation Trust, University of Southampton, Southampton, United Kingdom.

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April 2018

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Hum Mutat 2018 02 14;39(2):281-291. Epub 2017 Dec 14.

Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.

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February 2018

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.

Authors:

Reuben J Pengelly Thahmina Alom Zijian Zhang David Hunt Sarah Ennis Andrew Collins

Sci Rep 2017 10 18;7(1):13509. Epub 2017 Oct 18.

Genetic Epidemiology and Genomic Informatics, Faculty of Medicine, University of Southampton, Duthie Building, Mailpoint 808, Tremona Road, Southampton, SO16 6YD, UK.

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October 2017

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

Authors:

William Rae Daniel Ward Christopher J Mattocks Yifang Gao Reuben J Pengelly Sanjay V Patel Sarah Ennis Saul N Faust Anthony P Williams

Clin Transl Immunology 2017 Sep 15;6(9):e155. Epub 2017 Sep 15.

Department of Immunology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

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September 2017

Endoscopic and Histological Assessment of Paediatric Inflammatory Bowel Disease Over a 3-Year Follow-up Period.

Authors:

James J Ashton Quentin Bonduelle Enrico Mossotto Tracy Coelho Akshay Batra Nadeem A Afzal Bhumita Vadgama Sarah Ennis R Mark Beattie

J Pediatr Gastroenterol Nutr 2018 03;66(3):402-409

Department of Paediatric Gastroenterology, Southampton Children's Hospital.

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March 2018

Subclonal Evolution of Cancer-Related Gene Mutations in p53 Immunopositive Patches in Human Skin.

Authors:

Amel A Albibas Matthew J J Rose-Zerilli Chester Lai Reuben J Pengelly Gabrielle A Lockett Jeffrey Theaker Sarah Ennis John W Holloway Eugene Healy

J Invest Dermatol 2018 01 24;138(1):189-198. Epub 2017 Aug 24.

Dermatopharmacology, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, Hampshire, UK; Department of Dermatology, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, UK. Electronic address:

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January 2018

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Authors:

Chelsea S Norman Luke O'Gorman Jane Gibson Reuben J Pengelly Diana Baralle J Arjuna Ratnayaka Helen Griffiths Matthew Rose-Zerilli Megan Ranger David Bunyan Helena Lee Rhiannon Page Tutte Newall Fatima Shawkat Christopher Mattocks Daniel Ward Sarah Ennis Jay E Self

Sci Rep 2017 06 30;7(1):4415. Epub 2017 Jun 30.

Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.

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June 2017

16S sequencing and functional analysis of the fecal microbiome during treatment of newly diagnosed pediatric inflammatory bowel disease.

Authors:

James J Ashton Catherine M Colquhoun David W Cleary Tracy Coelho Rachel Haggarty Imke Mulder Akshay Batra Nadeem A Afzal R Mark Beattie Karen P Scott Sarah Ennis

Medicine (Baltimore) 2017 Jun;96(26):e7347

Department of Paediatric Gastroenterology, Southampton Children's Hospital Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton Gut Health Division, Rowett Institute, University of Aberdeen, Aberdeen Academic Unit of Clinical and Experimental Sciences, University of Southampton, Southampton 4D Pharma PLC, Aberdeen, UK.

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June 2017

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

Authors:

Eleanor G Seaby Rodney D Gilbert Gaia Andreoletti Reuben J Pengelly Catherine Mercer David Hunt Sarah Ennis

Front Pediatr 2017 22;5:113. Epub 2017 May 22.

Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

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May 2017

Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway.

Authors:

Gaia Andreoletti Valentina Shakhnovich Kathy Christenson Tracy Coelho Rachel Haggarty Nadeem A Afzal Akshay Batra Britt-Sabina Petersen Matthew Mort R Mark Beattie Sarah Ennis

Sci Rep 2017 04 19;7:46454. Epub 2017 Apr 19.

Human Genetics &Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, SO16 6YD, UK.

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April 2017

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

Authors:

Andrew G L Douglas Gaia Andreoletti Kevin Talbot Simon R Hammans Jaspal Singh Andrea Whitney Sarah Ennis Nicola C Foulds

Neurogenetics 2017 Apr 22;18(2):111-117. Epub 2017 Feb 22.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Level G, Mailpoint 627, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA, UK.

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April 2017

De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

Authors:

Shinichi Takahashi Gaia Andreoletti Rui Chen Yoichi Munehira Akshay Batra Nadeem A Afzal R Mark Beattie Jonathan A Bernstein Sarah Ennis Michael Snyder

Genome Med 2017 01 26;9(1). Epub 2017 Jan 26.

Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.

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January 2017

: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Authors:

Gaia Andreoletti Eleanor G Seaby Jennifer M Dewing Ita O'Kelly Katherine Lachlan Rodney D Gilbert Sarah Ennis

J Med Genet 2017 04 3;54(4):269-277. Epub 2016 Nov 3.

Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK.

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April 2017

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

Authors:

Kesava A Ramakrishnan Reuben J Pengelly Yifang Gao Mary Morgan Sanjay V Patel E Graham Davies Sarah Ennis Saul N Faust Anthony P Williams

J Allergy Clin Immunol Pract 2016 Nov - Dec;4(6):1160-1166.e10. Epub 2016 Oct 1.

Academic Unit of Cancer Sciences, Faculty of Medicine and Institute for Life Sciences, University of Southampton, and Cancer Research UK (CRUK) National Institute for Health Research (NIHR) Experimental Cancer Medicine Centre, Southampton, United Kingdom; Department of Allergy, Asthma and Clinical Immunology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.

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October 2017

Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort.

Authors:

Tracy Coelho Gaia Andreoletti James J Ashton Akshay Batra Nadeem Ahmad Afzal Yifang Gao Anthony P Williams Robert M Beattie Sarah Ennis

Sci Rep 2016 10 5;6:34658. Epub 2016 Oct 5.

Human Genetics and Genomic medicine, University of Southampton, Southampton, UK.

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October 2016

Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.

Authors:

James J Ashton Gaia Andreoletti Tracy Coelho Rachel Haggarty Akshay Batra Nadeem A Afzal R Mark Beattie Sarah Ennis

Inflamm Bowel Dis 2016 10;22(10):2317-27

*Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom; †Department of Paediatric Gastroenterology, University Hospital Southampton NHS Foundation Trust, Southampton General Hospital, United Kingdom; and ‡NIHR Nutrition Biomedical Research Centre, Southampton Centre for Biomedical Research, University Hospital Southampton NHS Foundation Trust, Southampton General Hospital, Southampton, United Kingdom.

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October 2016

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Authors:

Reuben J Pengelly Liliana Arias Julio Martínez Rosanna Upstill-Goddard Eleanor G Seaby Jane Gibson Sarah Ennis Andrew Collins Ignacio Briceño

Sci Rep 2016 07 26;6:30457. Epub 2016 Jul 26.

Department of Biomedical Sciences, Medical School, Universidad de La Sabana, Bogota, Colombia.

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July 2016

Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome.

Authors:

William Rae Kesava A Ramakrishnan Yifang Gao Margaret Ashton-Key Reuben J Pengelly Sanjay V Patel Sarah Ennis Anthony P Williams Saul N Faust

Clin Immunol 2016 10 19;171:38-40. Epub 2016 Jul 19.

University Hospital Southampton NHS Foundation Trust, Southampton, UK; Faculty of Medicine, University of Southampton, Southampton, UK; Southampton NIHR Wellcome Trust Clinical Research Facility, Southampton, UK.

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October 2016

Mutations specific to the Rac-GEF domain of cause intellectual disability and microcephaly.

Authors:

Reuben J Pengelly Stephanie Greville-Heygate Susanne Schmidt Eleanor G Seaby M Reza Jabalameli Sarju G Mehta Michael J Parker David Goudie Christine Fagotto-Kaufmann Catherine Mercer Anne Debant Sarah Ennis Diana Baralle

J Med Genet 2016 Nov 14;53(11):735-742. Epub 2016 Jul 14.

Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.

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November 2016

Progressive myoclonic epilepsy with Fanconi syndrome.

Authors:

Eleanor G Seaby Rodney D Gilbert Reuben J Pengelly Gaia Andreoletti Antonia Clarke Sarah Ennis

JRSM Open 2016 Jun 6;7(6):2054270415623145. Epub 2016 Jun 6.

Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK.

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June 2016

Analysis and Interpretation of the Human Microbiome.

Authors:

James J Ashton R Mark Beattie Sarah Ennis David W Cleary

Inflamm Bowel Dis 2016 07;22(7):1713-22

*Department of Paediatric Gastroenterology, Southampton Children's Hospital, Southampton, United Kingdom; †Department of Human Genetics and Genomics Medicine, University of Southampton, Southampton, United Kingdom; ‡Faculty of Medicine, Academic Unit of Clinical and Experimental Sciences, University of Southampton, Southampton, United Kingdom; and §Faculty of Natural and Environmental Sciences, Institute for Life Sciences, University of Southampton, Southampton, United Kingdom.

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July 2016

Exome Sequencing in Classic Hairy Cell Leukaemia Reveals Widespread Variation in Acquired Somatic Mutations between Individual Tumours Apart from the Signature BRAF V(600)E Lesion.

Authors:

Nicola J Weston-Bell Will Tapper Jane Gibson Dean Bryant Yurany Moreno Melford John Sarah Ennis Hanneke C Kluin-Nelemans Andrew R Collins Surinder S Sahota

PLoS One 2016 12;11(2):e0149162. Epub 2016 Feb 12.

Tumour Immunogenetics Group, Cancer Sciences Unit, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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July 2016

Exome sequencing explained: a practical guide to its clinical application.

Authors:

Eleanor G Seaby Reuben J Pengelly Sarah Ennis

Brief Funct Genomics 2016 Sep 9;15(5):374-84. Epub 2015 Dec 9.

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September 2016

Endoscopic Versus Histological Disease Extent at Presentation of Paediatric Inflammatory Bowel Disease.

Authors:

James J Ashton Tracy Coelho Sarah Ennis Bhumita Vadgama Akshay Batra Nadeem A Afzal R Mark Beattie

J Pediatr Gastroenterol Nutr 2016 Feb;62(2):246-51

*Department of Paediatric Gastroenterology, University Hospital Southampton †Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital ‡Department of Cellular Pathology, University Hospital Southampton, Southampton, UK.

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February 2016

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.

Authors:

Christine Gast Reuben J Pengelly Matthew Lyon David J Bunyan Eleanor G Seaby Nikki Graham Gopalakrishnan Venkat-Raman Sarah Ennis

Nephrol Dial Transplant 2016 06 7;31(6):961-70. Epub 2015 Sep 7.

Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

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June 2016

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations.

Authors:

Reuben J Pengelly William Tapper Jane Gibson Marcin Knut Rick Tearle Andrew Collins Sarah Ennis

BMC Genomics 2015 Sep 3;16:666. Epub 2015 Sep 3.

Human Genetics & Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Tremona Road, Southampton, SO16 6YD, UK.

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September 2015

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

Authors:

Nicola Foulds Reuben J Pengelly Simon R Hammans James A R Nicoll David W Ellison Adam Ditchfield Sarah Beck Sarah Ennis

Sci Rep 2015 May 15;5:10042. Epub 2015 May 15.

Department of Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, UK. Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust, UK.

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May 2015

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

Authors:

Reuben J Pengelly Jane Gibson Gaia Andreoletti Andrew Collins Christopher J Mattocks Sarah Ennis

Genome Med 2015 7;7(1):44. Epub 2015 May 7.

Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton, SO16 6YD UK.

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May 2015

Exome analysis of patients with concurrent pediatric inflammatory bowel disease and autoimmune disease.

Authors:

Gaia Andreoletti James J Ashton Tracy Coelho Claire Willis Rachel Haggarty Jane Gibson John Holloway Akshay Batra Nadeem A Afzal Robert Mark Beattie Sarah Ennis

Inflamm Bowel Dis 2015 Jun;21(6):1229-36

*Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom; †Department of Paediatric Gastroenterology, University Hospital Southampton NHS Foundation Trust, Southampton General Hospital, Southampton, United Kingdom; ‡NIHR Nutrition Biomedical Research Centre, Southampton Centre for Biomedical Research, University Hospital Southampton NHS Foundation Trust, Southampton General Hospital, Southampton, United Kingdom; and §Centre for Biological Sciences, Faculty of Natural and Environmental Studies, University of Southampton, Southampton, United Kingdom.

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June 2015

Complement factor I and age-related macular degeneration.

Authors:

Philip Alexander Jane Gibson Angela J Cree Sarah Ennis Andrew J Lotery

Mol Vis 2014 13;20:1253-7. Epub 2014 Sep 13.

Clinical & Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.

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June 2015

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Authors:

Henriët Springelkamp René Höhn Aniket Mishra Pirro G Hysi Chiea-Chuen Khor Stephanie J Loomis Jessica N Cooke Bailey Jane Gibson Gudmar Thorleifsson Sarah F Janssen Xiaoyan Luo Wishal D Ramdas Eranga Vithana Monisha E Nongpiur Grant W Montgomery Liang Xu Jenny E Mountain Puya Gharahkhani Yi Lu Najaf Amin Lennart C Karssen Kar-Seng Sim Elisabeth M van Leeuwen Adriana I Iglesias Virginie J M Verhoeven Michael A Hauser Seng-Chee Loon Dominiek D G Despriet Abhishek Nag Cristina Venturini Paul G Sanfilippo Arne Schillert Jae H Kang John Landers Fridbert Jonasson Angela J Cree Leonieke M E van Koolwijk Fernando Rivadeneira Emmanuelle Souzeau Vesteinn Jonsson Geeta Menon Robert N Weinreb Paulus T V M de Jong Ben A Oostra André G Uitterlinden Albert Hofman Sarah Ennis Unnur Thorsteinsdottir Kathryn P Burdon Timothy D Spector Alireza Mirshahi Seang-Mei Saw Johannes R Vingerling Yik-Ying Teo Jonathan L Haines Roger C W Wolfs Hans G Lemij E-Shyong Tai Nomdo M Jansonius Jost B Jonas Ching-Yu Cheng Tin Aung Ananth C Viswanathan Caroline C W Klaver Jamie E Craig Stuart Macgregor David A Mackey Andrew J Lotery Kari Stefansson Arthur A B Bergen Terri L Young Janey L Wiggs Norbert Pfeiffer Tien-Yin Wong Louis R Pasquale Alex W Hewitt Cornelia M van Duijn Christopher J Hammond

Nat Commun 2014 Sep 22;5:4883. Epub 2014 Sep 22.

Department of Twin Research and Genetic Epidemiology, King's College London, London WC2R 2LS, UK.

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September 2014

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Authors:

Pirro G Hysi Ching-Yu Cheng Henriët Springelkamp Stuart Macgregor Jessica N Cooke Bailey Robert Wojciechowski Veronique Vitart Abhishek Nag Alex W Hewitt René Höhn Cristina Venturini Alireza Mirshahi Wishal D Ramdas Gudmar Thorleifsson Eranga Vithana Chiea-Chuen Khor Arni B Stefansson Jiemin Liao Jonathan L Haines Najaf Amin Ya Xing Wang Philipp S Wild Ayse B Ozel Jun Z Li Brian W Fleck Tanja Zeller Sandra E Staffieri Yik-Ying Teo Gabriel Cuellar-Partida Xiaoyan Luo R Rand Allingham Julia E Richards Andrea Senft Lennart C Karssen Yingfeng Zheng Céline Bellenguez Liang Xu Adriana I Iglesias James F Wilson Jae H Kang Elisabeth M van Leeuwen Vesteinn Jonsson Unnur Thorsteinsdottir Dominiek D G Despriet Sarah Ennis Sayoko E Moroi Nicholas G Martin Nomdo M Jansonius Seyhan Yazar E-Shyong Tai Philippe Amouyel James Kirwan Leonieke M E van Koolwijk Michael A Hauser Fridbert Jonasson Paul Leo Stephanie J Loomis Rhys Fogarty Fernando Rivadeneira Lisa Kearns Karl J Lackner Paulus T V M de Jong Claire L Simpson Craig E Pennell Ben A Oostra André G Uitterlinden Seang-Mei Saw Andrew J Lotery Joan E Bailey-Wilson Albert Hofman Johannes R Vingerling Cécilia Maubaret Norbert Pfeiffer Roger C W Wolfs Hans G Lemij Terri L Young Louis R Pasquale Cécile Delcourt Timothy D Spector Caroline C W Klaver Kerrin S Small Kathryn P Burdon Kari Stefansson Tien-Yin Wong Ananth Viswanathan David A Mackey Jamie E Craig Janey L Wiggs Cornelia M van Duijn Christopher J Hammond Tin Aung

Nat Genet 2014 Oct 31;46(10):1126-1130. Epub 2014 Aug 31.

Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.

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October 2014

Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes.

Authors:

Tracy Coelho Gaia Andreoletti James J Ashton Reuben J Pengelly Yifang Gao Ananth RamaKrishnan Akshay Batra Robert M Beattie Anthony P Williams Sarah Ennis

Inflamm Bowel Dis 2014 Oct;20(10):1813-9

*Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom; †Pediatric Gastrointestinal Unit, University Hospital Southampton, Southampton, United Kingdom; and ‡Cancer Sciences Division, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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October 2014

Exome sequence read depth methods for identifying copy number changes.

Authors:

Latha Kadalayil Sajjad Rafiq Matthew J J Rose-Zerilli Reuben J Pengelly Helen Parker David Oscier Jonathan C Strefford William J Tapper Jane Gibson Sarah Ennis Andrew Collins

Brief Bioinform 2015 May 28;16(3):380-92. Epub 2014 Aug 28.

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May 2015

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

Authors:

William J Tapper Nicola Foulds Nicholas C P Cross Paula Aranaz Joannah Score Claire Hidalgo-Curtis David O Robinson Jane Gibson Sarah Ennis I Karen Temple Andrew Collins

PLoS One 2014 31;9(1):e86940. Epub 2014 Jan 31.

Department of Human Genetics and Genomic medicine, Faculty of Medicine, University of Southampton, Southampton, Hampshire, United Kingdom.

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October 2014

Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant.

Authors:

Jane Gibson Rodney D Gilbert David J Bunyan Elizabeth M Angus Darren J Fowler Sarah Ennis

Genet Res (Camb) 2013 Dec 28;95(6):165-73. Epub 2014 Jan 28.

Genetic Epidemiology and Genomic Informatics Group, Faculty of Medicine, University of Southampton, Southampton, UK.

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December 2013

IPF and chromosome 11p: lightning strikes twice?

Authors:

Sarah Ennis

Lancet Respir Med 2013 Jun 17;1(4):278-9. Epub 2013 Apr 17.

Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton SO16 6YD, UK. Electronic address:

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June 2013

Age-Related Macular Degeneration: A Disease of Systemic or Local Complement Dysregulation?

Authors:

Alasdair Warwick Samir Khandhadia Sarah Ennis Andrew Lotery

J Clin Med 2014 Nov 3;3(4):1234-57. Epub 2014 Nov 3.

Clinical Neurosciences Research Group, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.

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November 2014

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma.

Authors:

Marina Parry Matthew J J Rose-Zerilli Jane Gibson Sarah Ennis Renata Walewska Jade Forster Helen Parker Zadie Davis Anne Gardiner Andrew Collins David G Oscier Jonathan C Strefford

PLoS One 2013 13;8(12):e83244. Epub 2013 Dec 13.

Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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March 2015

Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN Study.

Authors:

Andrew J Lotery Jane Gibson Angela J Cree Susan M Downes Simon P Harding Chris A Rogers Barnaby C Reeves Sarah Ennis Usha Chakravarthy

Ophthalmology 2013 Dec 23;120(12):2637-2643. Epub 2013 Sep 23.

Centre for Vision Science, Queen's University of Belfast, Belfast, United Kingdom.

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December 2013

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

Authors:

Reuben J Pengelly Jane Gibson Gaia Andreoletti Andrew Collins Christopher J Mattocks Sarah Ennis

Genome Med 2013 27;5(9):89. Epub 2013 Sep 27.

Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Duthie Building (MP 808), Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK.

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May 2014

Support Vector Machine classifier for estrogen receptor positive and negative early-onset breast cancer.

Authors:

Rosanna Upstill-Goddard Diana Eccles Sarah Ennis Sajjad Rafiq William Tapper Joerg Fliege Andrew Collins

PLoS One 2013 19;8(7):e68606. Epub 2013 Jul 19.

Human Genetics and Cancer Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

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March 2014

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.

Authors:

Anna Murray Minouk J Schoemaker Claire E Bennett Sarah Ennis James N Macpherson Michael Jones Danielle H Morris Nick Orr Alan Ashworth Patricia A Jacobs Anthony J Swerdlow

Genet Med 2014 Jan 23;16(1):19-24. Epub 2013 May 23.

Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.

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January 2014

Age-related macular degeneration and modification of systemic complement factor H production through liver transplantation.

Authors:

Samir Khandhadia Svetlana Hakobyan Ling Z Heng Jane Gibson David H Adams Graeme J Alexander Jonathan M Gibson Keith R Martin Geeta Menon Kathryn Nash Sobha Sivaprasad Sarah Ennis Angela J Cree B Paul Morgan Andrew J Lotery

Ophthalmology 2013 Aug 4;120(8):1612-8. Epub 2013 Apr 4.

Clinical and Experimental Sciences, Clinical Neurosciences, Faculty of Medicine, University of Southampton, Southampton, UK.

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August 2013

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Authors:

Yi Lu Veronique Vitart Kathryn P Burdon Chiea Chuen Khor Yelena Bykhovskaya Alireza Mirshahi Alex W Hewitt Demelza Koehn Pirro G Hysi Wishal D Ramdas Tanja Zeller Eranga N Vithana Belinda K Cornes Wan-Ting Tay E Shyong Tai Ching-Yu Cheng Jianjun Liu Jia-Nee Foo Seang Mei Saw Gudmar Thorleifsson Kari Stefansson David P Dimasi Richard A Mills Jenny Mountain Wei Ang René Hoehn Virginie J M Verhoeven Franz Grus Roger Wolfs Raphaële Castagne Karl J Lackner Henriët Springelkamp Jian Yang Fridbert Jonasson Dexter Y L Leung Li J Chen Clement C Y Tham Igor Rudan Zoran Vatavuk Caroline Hayward Jane Gibson Angela J Cree Alex MacLeod Sarah Ennis Ozren Polasek Harry Campbell James F Wilson Ananth C Viswanathan Brian Fleck Xiaohui Li David Siscovick Kent D Taylor Jerome I Rotter Seyhan Yazar Megan Ulmer Jun Li Brian L Yaspan Ayse B Ozel Julia E Richards Sayoko E Moroi Jonathan L Haines Jae H Kang Louis R Pasquale R Rand Allingham Allison Ashley-Koch Paul Mitchell Jie Jin Wang Alan F Wright Craig Pennell Timothy D Spector Terri L Young Caroline C W Klaver Nicholas G Martin Grant W Montgomery Michael G Anderson Tin Aung Colin E Willoughby Janey L Wiggs Chi P Pang Unnur Thorsteinsdottir Andrew J Lotery Christopher J Hammond Cornelia M van Duijn Michael A Hauser Yaron S Rabinowitz Norbert Pfeiffer David A Mackey Jamie E Craig Stuart Macgregor Tien Y Wong

Nat Genet 2013 Feb 6;45(2):155-63. Epub 2013 Jan 6.

Queensland Institute of Medical Research, Statistical Genetics, Herston, Brisbane, Queensland, Australia.

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February 2013

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

Authors:

Jane Gibson William Tapper Sarah Ennis Andrew Collins

Hum Genet 2013 Feb 4;132(2):233-43. Epub 2012 Nov 4.

Genetic Epidemiology and Genomic informatics Group, Human Genetics, University of Southampton, Southampton General Hospital, Southampton, UK.

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February 2013

Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

Hum Mol Genet 2012 Sep 13;21(18):4138-50. Epub 2012 Jun 13.

Institute of Ophthalmology, University College London, London EC1V 9EL, UK.

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September 2012

Genome-wide association study of primary open angle glaucoma risk and quantitative traits.

Authors:

Jane Gibson Helen Griffiths Gabriella De Salvo Mick Cole Aby Jacob Alex Macleod Yit Yang Geeta Menon Angela Cree Sarah Ennis Andrew Lotery

Mol Vis 2012 28;18:1083-92. Epub 2012 Apr 28.

Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, UK.

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December 2012

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Authors:

Katja Christodoulou Anthony E Wiskin Jane Gibson William Tapper Claire Willis Nadeem A Afzal Rosanna Upstill-Goddard John W Holloway Michael A Simpson R Mark Beattie Andrew Collins Sarah Ennis

Gut 2013 Jul 28;62(7):977-84. Epub 2012 Apr 28.

Genetic Epidemiology and Genomic Informatics Group, Human Genetics & Genomic Medicine, University of Southampton, University Hospital Southampton NHS Foundation Trust, Southampton, UK.

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July 2013

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.

Hum Mutat 2011 Dec 12;32(12):1407-16. Epub 2011 Sep 12.

Centre for Public Health, Royal Victoria Hospital, Queen's University Belfast, Belfast, Northern Ireland.

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December 2011

Clinical implications of old and new genes for open-angle glaucoma.

Ophthalmology 2011 Dec 27;118(12):2389-97. Epub 2011 Aug 27.

Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.

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December 2011

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people.

Am J Epidemiol 2011 Jun 15;173(12):1357-64. Epub 2011 Apr 15.

Centre for Public Health, Queen’s University Belfast, Belfast, Northern Ireland.

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June 2011

Composite likelihood-based meta-analysis of breast cancer association studies.

Authors:

Ioannis Politopoulos Jane Gibson William Tapper Sarah Ennis Diana Eccles Andrew Collins

J Hum Genet 2011 May 10;56(5):377-82. Epub 2011 Mar 10.

Genetic Epidemiology and Bioinformatics Research Group, Human Genetics Research Division, University of Southampton, School of Medicine, Southampton General Hospital, Hampshire, UK.

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May 2011

Genome-wide association of breast cancer: composite likelihood with imputed genotypes.

Authors:

Ioannis Politopoulos Jane Gibson William Tapper Sarah Ennis Diana Eccles Andrew Collins

Eur J Hum Genet 2011 Feb 20;19(2):194-9. Epub 2010 Oct 20.

Genetic Epidemiology and Bioinformatics Research Group, Human Genetics Research Division, University of Southampton, School of Medicine, Southampton General Hospital, Hants, UK.

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February 2011

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

Nat Genet 2010 Oct 12;42(10):906-9. Epub 2010 Sep 12.

deCODE genetics Inc, Reykjavik, Iceland.

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October 2010

Genetic variants within chromosome 4q28.3 are not reproducibly associated with age-related macular degeneration (AMD).

Authors:

Jane Gibson Helen Griffiths Andrew Collins John R W Yates James C Folk Jade S East Andrew J Lotery Sarah Ennis

Acta Ophthalmol 2011 Nov 25;89(7):e603-4. Epub 2010 Aug 25.

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November 2011

Determination of a gene and environment risk model for age-related macular degeneration.

Authors:

Jane Gibson Angela Cree Andrew Collins Andrew Lotery Sarah Ennis

Br J Ophthalmol 2010 Oct 24;94(10):1382-7. Epub 2010 Jun 24.

Genetic Epidemiology & Bioinformatics Group, University of Southampton, Human Genetics Division, Southampton General Hospital, Southampton, UK.

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October 2010

The complement component 5 gene and age-related macular degeneration.

Ophthalmology 2010 Mar 22;117(3):500-11. Epub 2009 Dec 22.

Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences (KNAW), Amsterdam, The Netherlands.

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March 2010

Support for the involvement of complement factor I in age-related macular degeneration.

Authors:

Sarah Ennis Jane Gibson Angela J Cree Andrew Collins Andrew J Lotery

Eur J Hum Genet 2010 Jan;18(1):15-6

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January 2010

The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.

Authors:

William Tapper Victoria Hammond Sue Gerty Sarah Ennis Peter Simmonds Andrew Collins Diana Eccles

Breast Cancer Res 2008 18;10(6):R108. Epub 2008 Dec 18.

Human Genetics and Cancer Sciences Divisions, School of Medicine, Southampton General Hospital, University of Southampton, Southampton, SO16 6YD, UK.

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April 2009

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.

Authors:

Sarah Ennis Catherine Jomary Robert Mullins Angela Cree Xiaoli Chen Alex Macleod Stephen Jones Andrew Collins Edwin Stone Andrew Lotery

Lancet 2008 Nov 6;372(9652):1828-34. Epub 2008 Oct 6.

Genetic Epidemiology and Bioinformatics Group, University of Southampton, Human Genetics Division (Mp 808), Southampton General Hospital, Southampton, UK.

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November 2008