Rachel L Taylor

Rachel L Taylor

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Rachel L Taylor

Rachel L Taylor

Publications by authors named "Rachel L Taylor"

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

Eur J Hum Genet 2019 Dec 13. 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
December 2019

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Genet Med 2019 Dec 18. Epub 2019 Dec 18.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/s41436-019-0722-8DOI Listing
December 2019

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Ophthalmology 2019 Oct 21;126(10):1410-1421. Epub 2019 Mar 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, St. Mary's Hospital, Manchester, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183317
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http://dx.doi.org/10.1016/j.ophtha.2019.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856713PMC
October 2019

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Am J Hum Genet 2018 10;103(4):568-578

Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174361PMC
October 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Am J Hum Genet 2018 06 31;102(6):1195-1203. Epub 2018 May 31.

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK; Craniofacial Unit, Oxford University Hospitals NHS Trust, John Radcliffe Hospital, Oxford OX3 9DU, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183016
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http://dx.doi.org/10.1016/j.ajhg.2018.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992133PMC
June 2018

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

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI 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

Characteristics of smokers with a psychotic disorder and implications for smoking interventions.

Psychiatry Res 2007 Mar 7;150(2):141-52. Epub 2007 Feb 7.

Centre for Mental Health Studies, University of Newcastle, University Drive, Callaghan, NSW 2308, Australia.

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http://dx.doi.org/10.1016/j.psychres.2006.05.021DOI Listing
March 2007

A randomized controlled trial of a smoking cessation intervention among people with a psychotic disorder.

Am J Psychiatry 2006 Nov;163(11):1934-42

Centre for Mental Health Studies, University of Newcastle, University Dr., Callaghan, NSW 2308, Australia.

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http://psychiatryonline.org/doi/abs/10.1176/ajp.2006.163.11.
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http://dx.doi.org/10.1176/ajp.2006.163.11.1934DOI Listing
November 2006