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Author Details

John Taylor
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
2015
19
13
PMIDPaper TitleJournal TitlePublished Year
37333224Neuropathy target esterase activity predicts retinopathy among <i>PNPLA6</i> disorders.bioRxiv2023
37946251Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome Med2023
34949103Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.Circ Genom Precis Med2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
33712616Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.Nat Commun2021
33822907Concentrating Pooled COVID-19 Patient Lysates to Improve Reverse Transcription Quantitative PCR Sensitivity and Efficiency.Clin Chem2021
31358947The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.Genet Med2020
30783266Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.Genet Med2019
31345272Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.Genome Med2019
30859559Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.Clin Genet2019
29261176"Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.Genet Med2018
27884935Diagnostic value of exome and whole genome sequencing in craniosynostosis.J Med Genet2017
28327575Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.Eur J Hum Genet2017
28327571Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.Eur J Hum Genet2017
26680607Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.Clin Immunol2016
27236920A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.Am J Hum Genet2016
27543071Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: Report of 2 siblings.J Allergy Clin Immunol2016
27540713Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.Am J Med Genet A2016
25985138Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.Nat Genet2015
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Collaborators

Jenny C Taylor
University of Oxford
Co-authored papers 16
Alistair T Pagnamenta
NIHR Biomedical Research Centre, University of Oxford
Co-authored papers 8
Andrew O M Wilkie
NIHR Oxford Biomedical Research Centre
Co-authored papers 7
Hugh Watkins
Co-authored papers 6
Tracy Lester
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
Co-authored papers 5
Andrea H N??meth
University of Oxford
Co-authored papers 4
Julian C Knight
University of Oxford
Co-authored papers 4
Sarah Wordsworth
Health Economics Research Centre, University of Oxford
Co-authored papers 3
Isabel K Temple
University of Southampton
Co-authored papers 3
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 2
Russell J Grocock
Illumina Ltd
Co-authored papers 2
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 2
Michel Michaelides
Institute of Ophthalmology, University College London
Co-authored papers 2
Sian E Piret
Co-authored papers 2
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 2
Carme Camps
National Institute for Health Research Biomedical Research Centre
Co-authored papers 2
David R Bentley
Illumina Cambridge Ltd.
Co-authored papers 2
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 2
James Buchanan
Health Economics Research Centre, University of Oxford
Co-authored papers 2
Erika Kvikstad
University of Oxford
Co-authored papers 2
Hilary C Martin
Wellcome Sanger Institute
Co-authored papers 2
Sean Humphray
Illumina Ltd.
Co-authored papers 2
Siddharth Banka
University of Manchester
Co-authored papers 2
Gavin Arno
Institute of Ophthalmology, University College London
Co-authored papers 2
Philip Twiss
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Bishoy Habib
Co-authored papers 1
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Dominic J McMullan
Birmingham Women's and Children's NHS Foundation Trust
Co-authored papers 1
No??mi B A Roy
MRC Weatherall Institute of Molecular Medicine, University of Oxford
Co-authored papers 1
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
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