Publications by authors named "Sarah Ennis"

97Publications

Growth failure is rare in a contemporary cohort of paediatric inflammatory bowel disease patients.

Acta Paediatr 2021 Jan 20;110(1):326-334. Epub 2020 Aug 20.

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

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January 2021

The FRAXA and FRAXE allele repeat size of boys from the Avon Longitudinal Study of Parents and Children (ALSPAC).

Wellcome Open Res 2019 27;4:116. Epub 2020 Jan 27.

Population Health Sciences, Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol, BS8 2BN, UK.

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January 2020

Comparison of Mendeliome exome capture kits for use in clinical diagnostics.

Sci Rep 2020 02 24;10(1):3235. Epub 2020 Feb 24.

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

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February 2020

TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients.

J Clin Immunol 2020 01 9;40(1):245-247. Epub 2019 Dec 9.

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.

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

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

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.

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.

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.

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.

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.

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

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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December 2018

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

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

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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October 2017

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

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.

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).

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 .

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.

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

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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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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September 2017

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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January 2018

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

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

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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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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April 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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April 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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October 2017

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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October 2016

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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October 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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June 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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July 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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February 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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June 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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September 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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May 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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May 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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June 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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June 2015

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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September 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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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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October 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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October 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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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?

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

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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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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March 2014

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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February 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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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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December 2012

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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July 2013

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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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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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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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

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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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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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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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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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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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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January 2007

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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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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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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April 2004