Sarah Ennis

Sarah Ennis

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Sarah Ennis

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

Eur J Hum Genet 2019 Sep 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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http://dx.doi.org/10.1038/s41431-019-0419-0DOI Listing
September 2019

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

Aliment Pharmacol Ther 2019 Sep 13. Epub 2019 Sep 13.

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

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http://dx.doi.org/10.1111/apt.15485DOI Listing
September 2019

Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

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

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

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http://dx.doi.org/10.1038/s41598-019-46906-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639539PMC
July 2019

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

Sci Rep 2019 Feb 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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http://dx.doi.org/10.1038/s41598-019-38760-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395666PMC
February 2019

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

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

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

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http://dx.doi.org/10.21037/tp.2018.12.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6382508PMC
January 2019

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

Inflamm Bowel Dis 2018 Dec 17. Epub 2018 Dec 17.

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

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http://dx.doi.org/10.1093/ibd/izy369DOI Listing
December 2018

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

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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http://www.ijo.cn/gjyken/ch/reader/view_abstract.aspx?file_n
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http://dx.doi.org/10.18240/ijo.2018.12.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288524PMC
December 2018

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

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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https://linkinghub.elsevier.com/retrieve/pii/S15251578173052
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http://dx.doi.org/10.1016/j.jmoldx.2018.05.002DOI Listing
September 2018

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

Ophthalmol Retina 2018 Aug 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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https://linkinghub.elsevier.com/retrieve/pii/S24686530183003
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http://dx.doi.org/10.1016/j.oret.2018.02.014DOI Listing
August 2018

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

Brief Bioinform 2018 Jul 24. Epub 2018 Jul 24.

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

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http://dx.doi.org/10.1093/bib/bby064DOI Listing
July 2018

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

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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http://dx.doi.org/10.1016/j.jaci.2017.11.014DOI Listing
April 2018

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

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

Department of Paediatric Gastroenterology, Southampton Children's Hospital.

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http://dx.doi.org/10.1097/MPG.0000000000001729DOI Listing
March 2018

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

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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http://dx.doi.org/10.1016/j.jid.2017.07.844DOI Listing
January 2018

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

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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http://dx.doi.org/10.1161/CIRCGENETICS.116.001683DOI Listing
December 2017

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

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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http://dx.doi.org/10.1016/j.jaip.2016.07.014DOI Listing
October 2017

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

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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http://dx.doi.org/10.1038/s41598-017-13841-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647373PMC
October 2017

Early-onset paediatric inflammatory bowel disease.

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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http://dx.doi.org/10.1016/S2352-4642(17)30017-2DOI Listing
October 2017

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.

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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http://dx.doi.org/10.1038/cti.2017.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628267PMC
September 2017

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

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

aDepartment of Paediatric Gastroenterology, Southampton Children's Hospital bDepartment of Human Genetics and Genomic Medicine, University of Southampton, Southampton cGut Health Division, Rowett Institute, University of Aberdeen, Aberdeen dAcademic Unit of Clinical and Experimental Sciences, University of Southampton, Southampton e4D Pharma PLC, Aberdeen, UK.

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http://dx.doi.org/10.1097/MD.0000000000007347DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500076PMC
June 2017

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

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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http://dx.doi.org/10.1136/jmedgenet-2016-104100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502304PMC
April 2017

ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.

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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http://dx.doi.org/10.1007/s10048-017-0510-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359383PMC
April 2017

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

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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http://dx.doi.org/10.1038/srep46454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5396125PMC
April 2017

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

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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http://dx.doi.org/10.1016/j.clim.2016.07.017DOI Listing
October 2016

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

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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http://dx.doi.org/10.1097/MIB.0000000000000890DOI Listing
October 2016

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

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

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http://dx.doi.org/10.1093/bfgp/elv054DOI Listing
September 2016

Analysis and Interpretation of the Human Microbiome.

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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https://academic.oup.com/ibdjournal/article/22/7/1713-1722/4
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http://dx.doi.org/10.1097/MIB.0000000000000809DOI Listing
July 2016

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

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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https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/
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http://dx.doi.org/10.1093/ndt/gfv325DOI Listing
June 2016

Progressive myoclonic epilepsy with Fanconi syndrome.

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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http://dx.doi.org/10.1177/2054270415623145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900196PMC
June 2016

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

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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http://dx.doi.org/10.1097/MPG.0000000000001032DOI Listing
February 2016

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

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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http://dx.doi.org/10.1186/s12864-015-1854-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4558963PMC
September 2015

Complement factor I and age-related macular degeneration.

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165324PMC
June 2015

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

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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http://dx.doi.org/10.1097/MIB.0000000000000381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450895PMC
June 2015

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

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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http://dx.doi.org/10.1186/s13073-015-0163-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422541PMC
May 2015

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

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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http://dx.doi.org/10.1038/srep10042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432561PMC
May 2015

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

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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http://dx.doi.org/10.3390/jcm3041234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470180PMC
November 2014

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

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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0086940PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908952PMC
October 2014

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

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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http://dx.doi.org/10.1097/MIB.0000000000000174DOI Listing
October 2014

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

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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http://dx.doi.org/10.1038/ng.3087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4177225PMC
October 2014

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

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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http://eprints.soton.ac.uk/369296/1/ncomms5883.pdf
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http://www.nature.com/doifinder/10.1038/ncomms5883
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http://dx.doi.org/10.1038/ncomms5883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199103PMC
September 2014

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

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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http://dx.doi.org/10.1186/gm492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978886PMC
May 2014

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

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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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0068606PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3716652PMC
March 2014

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

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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http://search.proquest.com/openview/ac74e70aadb0bd2761ed1af9
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http://www.journals.cambridge.org/abstract_S0016672313000220
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http://dx.doi.org/10.1017/S0016672313000220DOI Listing
December 2013

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

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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http://dx.doi.org/10.1016/j.ophtha.2013.01.004DOI Listing
August 2013

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

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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http://dx.doi.org/10.1136/gutjnl-2011-301833DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3686259PMC
July 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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http://dx.doi.org/10.1016/S2213-2600(13)70050-XDOI Listing
June 2013

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

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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http://link.springer.com/10.1007/s00439-012-1243-6
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http://dx.doi.org/10.1007/s00439-012-1243-6DOI Listing
February 2013

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

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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http://dx.doi.org/10.1038/ng.2506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720123PMC
February 2013

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

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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351427PMC
December 2012

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

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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http://dx.doi.org/10.1038/jhg.2011.23DOI Listing
May 2011

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

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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http://www.nature.com/articles/ejhg2010157
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http://dx.doi.org/10.1038/ejhg.2010.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3025787PMC
February 2011

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

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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http://dx.doi.org/10.1136/bjo.2010.182568DOI Listing
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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http://dx.doi.org/10.1016/j.ophtha.2009.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830367PMC
March 2010

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

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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http://dx.doi.org/10.1186/bcr2213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2656905PMC
April 2009

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

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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http://linkinghub.elsevier.com/retrieve/pii/S014067360861348
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http://dx.doi.org/10.1016/S0140-6736(08)61348-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983350PMC
November 2008

Linkage disequilibrium as a tool for detecting signatures of natural selection.

Authors:
Sarah Ennis

Methods Mol Biol 2007 ;376:59-70

Human Genetics Division, Southampton General Hospital, UK.

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http://dx.doi.org/10.1007/978-1-59745-389-9_5DOI Listing
December 2007

Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH): study protocol.

BMC Cancer 2007 Aug 15;7:160. Epub 2007 Aug 15.

Somers Cancer Sciences Building Mail Point 824, Southampton University Hospitals NHS Trust, Tremona Road, Southampton SO16 6YA, UK.

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http://dx.doi.org/10.1186/1471-2407-7-160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1995215PMC
August 2007

Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region.

Br J Ophthalmol 2007 Jul 21;91(7):966-70. Epub 2007 Feb 21.

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

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http://dx.doi.org/10.1136/bjo.2007.114090DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1955647PMC
July 2007

Genome scanning by composite likelihood.

Am J Hum Genet 2007 Jan 5;80(1):19-28. Epub 2006 Dec 5.

Human Genetics Division, University of Southampton, Southampton General Hospital, Southampton ,SO16 6YD, UK.

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http://dx.doi.org/10.1086/510401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1785319PMC
January 2007

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.

Mol Vis 2006 Oct 18;12:1211-6. Epub 2006 Oct 18.

Clinical Neurosciences Division, University of Southampton, Southampton, UK.

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October 2006

Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers.

Eur J Hum Genet 2006 Feb;14(2):253-5

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

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http://dx.doi.org/10.1038/sj.ejhg.5201510DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725422PMC
February 2006

Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited.

Eur J Hum Genet 2005 Feb;13(2):154-60

Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201311DOI Listing
February 2005

A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities.

Am J Med Genet A 2004 Apr;126A(1):46-60

Wessex Regional Genetics Laboratory, Salisbury Health Care NHS Trust, Salisbury District Hospital, Salisbury, Wiltshire, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.20553DOI Listing
April 2004