Christopher Boustred

Christopher Boustred

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Christopher Boustred

Christopher Boustred

Publications by authors named "Christopher Boustred"

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16Publications

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One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.

Eur J Hum Genet 2019 Sep 30. Epub 2019 Sep 30.

European Molecular Genetics Quality Network (EMQN), Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/s41431-019-0515-1DOI Listing
September 2019

Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Atherosclerosis 2017 05 8;260:47-55. Epub 2017 Mar 8.

Genetic Epidemiology Group, Institute of Cardiovascular Science, Farr Institute for Health Informatics, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2017.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414415PMC
May 2017

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 2016

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.

Am J Hum Genet 2016 Jan 17;98(1):34-44. Epub 2015 Dec 17.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3BH, UK; UCL Institute of Child Health, University College London, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716686PMC
January 2016

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Prenat Diagn 2015 Oct 11;35(10):1010-7. Epub 2015 Sep 11.

North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4675DOI Listing
October 2015

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.

Bioinformatics 2014 Oct 1;30(20):2965-7. Epub 2014 Jul 1.

University College London Genetics Institute, University College London, UK and North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1093/bioinformatics/btu419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184262PMC
October 2014

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Am J Med Genet A 2014 Jul 3;164A(7):1777-83. Epub 2014 Apr 3.

NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36506DOI Listing
July 2014

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.

BMC Pregnancy Childbirth 2014 Jul 16;14:229. Epub 2014 Jul 16.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, York House, 37 Queen Square, London WC1N 3BH, UK.

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http://dx.doi.org/10.1186/1471-2393-14-229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226037PMC
July 2014

MeltMADGE for mutation scanning of specific genes in population studies.

Nat Protoc 2010 Nov 21;5(11):1800-12. Epub 2010 Oct 21.

Clinical Laboratory Sciences Department, College of Applied Medical Sciences, King Saud University, Riyadh, Saudi Arabia.

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http://www.nature.com/articles/nprot.2010.136
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http://dx.doi.org/10.1038/nprot.2010.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3575632PMC
November 2010