Publications by authors named "Simon C Ramsden"

39Publications

Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.

Otol Neurotol 2020 Apr;41(4):431-437

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1097/MAO.0000000000002588DOI Listing
April 2020

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.

Eur J Hum Genet 2020 May 13;28(5):576-586. Epub 2019 Dec 13.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre (MAHSC), University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/s41431-019-0548-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171123PMC
May 2020

Clinical and genetic variability in children with partial albinism.

Sci Rep 2019 11 12;9(1):16576. Epub 2019 Nov 12.

Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/s41598-019-51768-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851142PMC
November 2019

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.

Eur J Hum Genet 2019 09 24;27(9):1326-1340. Epub 2019 Jun 24.

Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1038/s41431-019-0435-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777528PMC
September 2019

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents-the first cases of gonadal mosaicism in CFC?

Am J Med Genet A 2018 07 28;176(7):1637-1640. Epub 2018 Apr 28.

Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.38725DOI Listing
July 2018

Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.

Mol Ther 2017 08 24;25(8):1854-1865. Epub 2017 May 24.

Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, The John Radcliffe Hospital, Levels 5 & 6, West Wing, Headley Way, OX3 9DU Oxford, UK; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, The John Radcliffe Hospital, West Wing, Headley Way, OX3 9DU Oxford, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5542800PMC
August 2017

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Eur J Hum Genet 2017 06 5;25(6):719-724. Epub 2017 Apr 5.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2017.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427176PMC
June 2017

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Ophthalmology 2017 07 22;124(7):985-991. Epub 2017 Mar 22.

Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2017.02.005DOI Listing
July 2017

Molecular findings from 537 individuals with inherited retinal disease.

J Med Genet 2016 Nov 11;53(11):761-767. Epub 2016 May 11.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2016-103837
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http://dx.doi.org/10.1136/jmedgenet-2016-103837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5106339PMC
November 2016

Challenge for a new era-importance of ensuring accuracy of genotype in cystic fibrosis registries.

J Cyst Fibros 2016 09 9;15(5):e50-1. Epub 2016 Apr 9.

Manchester Adult Cystic Fibrosis Centre, University Hospital of South Manchester, Southmoor Road, Manchester, M23 9LT, UK; Centre for Respiratory Medicine and Allergy, Institute of Inflammation and Repair, Manchester Academic Health Science Centre, University of Manchester, Manchester M23 9LT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jcf.2016.03.003DOI Listing
September 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Invest Ophthalmol Vis Sci 2016 Mar;57(3):1053-62

University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 12Ophthalmology, University of California, San Francisco, California, United States.

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http://dx.doi.org/10.1167/iovs.15-17976DOI Listing
March 2016

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology 2016 May 9;123(5):1143-50. Epub 2016 Feb 9.

Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom; Institute of Human Development, University of Manchester, Manchester, United Kingdom; Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2016.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845717PMC
May 2016

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

Lancet 2015 May;385(9980):1916

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/S0140-6736(15)60496-2DOI Listing
May 2015

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Invest Ophthalmol Vis Sci 2014 Sep 30;55(10):6934-44. Epub 2014 Sep 30.

Inherited Eye Diseases, UCL Institute of Ophthalmology, London, United Kingdom Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.14-14715DOI Listing
September 2014

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

Ophthalmology 2014 Nov 19;121(11):2124-37.e1-2. Epub 2014 Aug 19.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre, Saint Mary's Hospital, Manchester, United Kingdom; Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2014.06.006DOI Listing
November 2014

Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias.

Eur J Hum Genet 2014 Nov 5;22(11):1278-82. Epub 2014 Mar 5.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2014.30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051597PMC
November 2014

Clinical utility gene card for: choroideremia.

Eur J Hum Genet 2014 Apr 21;22(4). Epub 2013 Aug 21.

1] Institute of Ophthalmology, UCL, London, UK [2] Moorfields Eye Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2013.183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953909PMC
April 2014

A clinical molecular genetic service for United Kingdom families with choroideraemia.

Eur J Med Genet 2013 Aug 25;56(8):432-8. Epub 2013 Jun 25.

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, United Kingdom.

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http://dx.doi.org/10.1016/j.ejmg.2013.06.003DOI Listing
August 2013

Fragile X syndrome testing in the North West.

Arch Dis Child 2013 Mar 18;98(3):239. Epub 2013 Jan 18.

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http://dx.doi.org/10.1136/archdischild-2012-302934DOI Listing
March 2013

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Genet Med 2012 Nov 12;14(11):891-9. Epub 2012 Jul 12.

Nuffield Department of Clinical Neuroscience, Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, UK.

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http://dx.doi.org/10.1038/gim.2012.73DOI Listing
November 2012

The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following four rounds of circulation.

J Clin Pathol 2012 Sep 9;65(9):786-90. Epub 2012 Jun 9.

Department of Histopathology, Bristol Royal Infirmary, Bristol, UK.

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http://dx.doi.org/10.1136/jclinpath-2012-200851DOI Listing
September 2012

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

J Med Genet 2012 May;49(5):322-6

Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester Foundation Trust, St Mary’s Hospital, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2012-100847DOI Listing
May 2012

Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?

Genet Test Mol Biomarkers 2012 Jun 7;16(6):580-91. Epub 2012 Feb 7.

School of Health and Related Medicine, University of Sheffield, Sheffield, United Kingdom.

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http://dx.doi.org/10.1089/gtmb.2011.0236DOI Listing
June 2012

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Eur J Hum Genet 2012 May 11;20(5). Epub 2012 Jan 11.

Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2011.251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330226PMC
May 2012

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

BMC Med Genet 2010 May 11;11:70. Epub 2010 May 11.

National Genetics Reference Laboratory (Manchester), Saint Mary's Hospital, Hathersage Road, Manchester M13OJH, UK.

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http://dx.doi.org/10.1186/1471-2350-11-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877670PMC
May 2010

Pharmacogenetic testing in the United Kingdom genetics and immunogenetics laboratories.

Genet Test Mol Biomarkers 2010 Feb;14(1):121-5

Department of Medical Genetics, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester, St. Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1089/gtmb.2009.0156DOI Listing
February 2010

FCI: an R-based algorithm for evaluating uncertainty of absolute real-time PCR quantification.

BMC Bioinformatics 2008 Jan 10;9:13. Epub 2008 Jan 10.

National Genetics Reference Laboratory (Manchester), St, Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1186/1471-2105-9-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2245902PMC
January 2008

EQUAL-quant: an international external quality assessment scheme for real-time PCR.

Clin Chem 2006 Aug 1;52(8):1584-91. Epub 2006 Jun 1.

National Genetics Reference Laboratory (Manchester), St. Mary's Hospital, Manchester, UK, and Institute of Medical Statistics and Biometry, University of Milan, Italy.

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http://www.clinchem.org/content/52/8/1584.full.pdf
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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2005.066019
Publisher Site
http://dx.doi.org/10.1373/clinchem.2005.066019DOI Listing
August 2006