Caroline F Wright

Caroline F Wright

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Caroline F Wright

Caroline F Wright

Publications by authors named "Caroline F Wright"

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Am J Hum Genet 2019 Feb 18;104(2):275-286. Epub 2019 Jan 18.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Research, Innovation, Learning and Development building, Royal Devon & Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369448PMC
February 2019

Paediatric genomics: diagnosing rare disease in children.

Nat Rev Genet 2018 05 5;19(5):253-268. Epub 2018 Feb 5.

Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1038/nrg.2017.116DOI Listing
May 2018

Paediatric genomics: diagnosing rare disease in children.

Nat Rev Genet 2018 05 19;19(5):325. Epub 2018 Feb 19.

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http://dx.doi.org/10.1038/nrg.2018.12DOI Listing
May 2018

Returning genome sequences to research participants: Policy and practice.

Wellcome Open Res 2017 Feb 24;2:15. Epub 2017 Feb 24.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.10942.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351846PMC
February 2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Principle of proportionality in genomic data sharing.

Nat Rev Genet 2016 01 23;17(1):1-2. Epub 2015 Nov 23.

Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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http://dx.doi.org/10.1038/nrg.2015.5DOI Listing
January 2016

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

Hum Mutat 2015 Oct 20;36(10):941-9. Epub 2015 Aug 20.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom.

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http://dx.doi.org/10.1002/humu.22842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832335PMC
October 2015

Potential research participants support the return of raw sequence data.

J Med Genet 2015 Aug 20;52(8):571-4. Epub 2015 May 20.

Nuffield Department of Population Health, The Ethox Centre, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518751PMC
August 2015

No expectation to share incidental findings in genomic research.

Lancet 2015 Apr 17;385(9975):1289-90. Epub 2014 Dec 17.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1016/S0140-6736(14)62119-XDOI Listing
April 2015

Distinguishing low frequency mutations from RT-PCR and sequence errors in viral deep sequencing data.

BMC Genomics 2015 Mar 24;16:229. Epub 2015 Mar 24.

Boyd Orr Centre for Population and Ecosystem Health, Institute of Biodiversity, Animal Health and Comparative Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, G12 8QQ, United Kingdom.

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http://dx.doi.org/10.1186/s12864-015-1456-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425905PMC
March 2015

Conceptual issues for screening in the genomic era - time for an update?

Epidemiol Biostat Public Health 2014 Dec;11(4)

PHG Foundation, Cambridge UK.

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http://dx.doi.org/10.2427/9944DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4783824PMC
December 2014

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Nucleic Acids Res 2014 Jan 22;42(Database issue):D993-D1000. Epub 2013 Oct 22.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK and Cambridge University Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkt937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078PMC
January 2014

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

Reconstructing the origin and transmission dynamics of the 1967-68 foot-and-mouth disease epidemic in the United Kingdom.

Infect Genet Evol 2013 Dec 13;20:230-8. Epub 2013 Sep 13.

The Pirbright Institute, Ash Road, Pirbright, Woking GU24 0NF, UK; Institute of Biodiversity, Animal Health and Comparative Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.

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https://core.ac.uk/download/pdf/19182604.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S156713481300347
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http://dx.doi.org/10.1016/j.meegid.2013.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898989PMC
December 2013

Policy challenges of clinical genome sequencing.

BMJ 2013 Nov 22;347:f6845. Epub 2013 Nov 22.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1136/bmj.f6845DOI Listing
November 2013

Empirical research on the ethics of genomic research.

Am J Med Genet A 2013 Aug 27;161A(8):2099-101. Epub 2013 Jun 27.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.36067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884757PMC
August 2013

Informatics and clinical genome sequencing: opening the black box.

Genet Med 2013 Mar 13;15(3):165-71. Epub 2012 Sep 13.

PHG Foundation, Cambridge, UK.

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http://dx.doi.org/10.1038/gim.2012.116DOI Listing
March 2013

Observing micro-evolutionary processes of viral populations at multiple scales.

Philos Trans R Soc Lond B Biol Sci 2013 Mar 4;368(1614):20120203. Epub 2013 Feb 4.

College of Medical, Veterinary and Life Sciences, Institute of Biodiversity, Animal Health and Comparative Medicine, University of Glasgow, Glasgow G12 8QQ, UK.

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http://rstb.royalsocietypublishing.org/cgi/doi/10.1098/rstb.
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http://dx.doi.org/10.1098/rstb.2012.0203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678327PMC
March 2013

Review of massively parallel DNA sequencing technologies.

Hugo J 2011 Dec 27;5(1-4):1-12. Epub 2011 Oct 27.

PHG Foundation, 2 Worts Causeway, Cambridge, CB1 8RN UK.

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http://dx.doi.org/10.1007/s11568-011-9156-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3238019PMC
December 2011

The Deciphering Developmental Disorders (DDD) study.

Dev Med Child Neurol 2011 Aug 17;53(8):702-3. Epub 2011 Jun 17.

Department of Medical Genetics, Cambridge University Hospitals Foundation Trust, Cambridge, UK.

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http://doi.wiley.com/10.1111/j.1469-8749.2011.04032.x
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http://dx.doi.org/10.1111/j.1469-8749.2011.04032.xDOI Listing
August 2011

Regulating direct-to-consumer genetic tests: what is all the fuss about?

Genet Med 2011 Apr;13(4):295-300

PHG Foundation, Cambridge, United Kingdom.

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http://dx.doi.org/10.1097/GIM.0b013e3181f69dd2DOI Listing
April 2011

Realising the benefits of genetics for health.

Lancet 2010 Oct;376(9750):1370-1

PHG Foundation, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.

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http://dx.doi.org/10.1016/S0140-6736(10)61310-4DOI Listing
October 2010

Size of the direct-to-consumer genomic testing market.

Genet Med 2010 Sep;12(9):594

PHG Foundation, Cambridge, United Kingdom.

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http://dx.doi.org/10.1097/GIM.0b013e3181ead743DOI Listing
September 2010

A new strategic phase for genomic medicine in UK health services.

Genome Med 2009 Oct 12;1(10):93. Epub 2009 Oct 12.

PHG Foundation, 2 Worts Causeway, Cambridge, CB1 8RN, UK.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm9
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http://dx.doi.org/10.1186/gm93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784306PMC
October 2009

Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing.

BMJ 2009 Jul 6;339:b2451. Epub 2009 Jul 6.

PHG Foundation, Strangeways Research Laboratory, Cambridge CB1 8RN.

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http://dx.doi.org/10.1136/bmj.b2451DOI Listing
July 2009

The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis.

Hum Reprod Update 2009 Jan-Feb;15(1):139-51. Epub 2008 Oct 22.

PHG Foundation Strangeways Research Laboratory, Cambridge, UK.

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http://dx.doi.org/10.1093/humupd/dmn047DOI Listing
March 2009

The importance of sequence diversity in the aggregation and evolution of proteins.

Nature 2005 Dec;438(7069):878-81

Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, UK.

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http://dx.doi.org/10.1038/nature04195DOI Listing
December 2005

The importance of loop length in the folding of an immunoglobulin domain.

Protein Eng Des Sel 2004 May 18;17(5):443-53. Epub 2004 Jun 18.

University of Cambridge, Department of Chemistry, Lensfield Road, CB2 1EW, UK.

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http://dx.doi.org/10.1093/protein/gzh052DOI Listing
May 2004

Thermodynamic characterisation of two transition states along parallel protein folding pathways.

J Mol Biol 2004 Apr;338(3):445-51

Department of Chemistry, University of Cambridge, Lensfield Road, Cambridge CB2 1EW, UK.

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http://dx.doi.org/10.1016/j.jmb.2004.02.062DOI Listing
April 2004

Parallel protein-unfolding pathways revealed and mapped.

Nat Struct Biol 2003 Aug;10(8):658-62

Department of Chemistry, University of Cambridge, MRC Centre for Protein Engineering, Lensfield Road, Cambridge CB2 1EW, UK.

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http://dx.doi.org/10.1038/nsb947DOI Listing
August 2003