Jamie M Ellingford

Jamie M Ellingford

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Jamie M Ellingford

Jamie M Ellingford

Publications by authors named "Jamie M Ellingford"

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13Publications

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A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

Am J Hum Genet 2018 08;103(2):213-220

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 M13 9PL, UK; Manchester Breast Centre, Manchester Cancer Research Centre, University of Manchester, Manchester M20 4BX, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080768PMC
August 2018

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.

Clin Exp Ophthalmol 2017 12 13;45(9):901-910. Epub 2017 Jun 13.

Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/ceo.12983DOI Listing
December 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

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

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.

Acta Ophthalmol 2017 05 28;95(3):e249-e250. Epub 2016 Sep 28.

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1111/aos.13246DOI Listing
May 2017

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.

Clin Exp Ophthalmol 2017 04 21;45(3):297-299. Epub 2016 Sep 21.

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.

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http://dx.doi.org/10.1111/ceo.12825DOI Listing
April 2017

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.

Invest Ophthalmol Vis Sci 2017 01;58(1):594-603

Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, The University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom 3Manchester Centre for Genomic Medicine, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.16-21026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841568PMC
January 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

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