Publications by authors named "Christopher Boustred"

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1
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Zornitza Stark, Rebecca E Foulger, Eleanor Williams, Bryony A Thompson, Chirag Patel, Christopher Boustred

Am J Hum Genet· September 2021

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One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants.
Maria Weronika Gutowska-Ding, Zandra C Deans, Christophe Roos, Jukka Matilainen, Farrah Khawaja, Christopher Boustred

Eur J Hum Genet· February 2020

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High prevalence of p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Amelia Shoemark, Eduardo Moya, Robert A Hirst, Mitali P Patel, Evelyn A Robson, Christopher Boustred

Thorax· February 2018

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Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.
Suzanne Drury, Sarah Mason, Fiona McKay, Kitty Lo, Christopher Boustred

Adv Exp Med Biol· September 2017

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Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).
Marta Futema, Jackie A Cooper, Marietta Charakida, Christopher Boustred, Naveed Sattar

Atherosclerosis· May 2017

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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Chiara Olcese, Mitali P Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Christopher Boustred

Nat Commun· February 2017

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Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Emma S Reid, Apostolos Papandreou, Suzanne Drury, Christopher Boustred, Wyatt W Yue

Brain· November 2016

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Natalie Trump, Amy McTague, Helen Brittain, Apostolos Papandreou, Esther Meyer, Christopher Boustred

J Med Genet· May 2016

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Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.
Kitty K Lo, Evangelia Karampetsou, Christopher Boustred, Fiona McKay, Sarah Mason

Am J Hum Genet· January 2016

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Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Suzanne Drury, Hywel Williams, Natalie Trump, Christopher Boustred,

Prenat Diagn· October 2015

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Influence of adiposity-related genetic markers in a population of saudi arabians where other variables influencing obesity may be reduced.
Khalid K Alharbi, Tom G Richardson, Imran Ali Khan, Rabbani Syed, Abdul Khader Mohammed, Christopher R Boustred

Dis Markers· July 2015

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CHD2 variants are a risk factor for photosensitivity in epilepsy.
Elizabeth C Galizia, Candace T Myers, Costin Leu, Carolien G F de Kovel, Tatiana Afrikanova, Christopher Boustred

Brain· May 2015

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RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.
Kitty K Lo, Christopher Boustred, Lyn S Chitty, Vincent Plagnol

Bioinformatics· October 2014

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A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
Suzanne Drury, Christopher Boustred, Mehmet Tekman, Horia Stanescu, Robert Kleta

Am J Med Genet A· July 2014

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Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.
Melissa Hill, David Wright, Rebecca Daley, Celine Lewis, Fiona McKay, Christopher Boustred

BMC Pregnancy Childbirth· July 2014

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From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.
Muslim M Alsaadi, Tom R Gaunt, Christopher R Boustred, Philip A I Guthrie, Xuan Liu

Ann Hum Genet· May 2012

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MeltMADGE for mutation scanning of specific genes in population studies.
Khalid K Alharbi, Mohammed A Aldahmesh, Tom R Gaunt, Hamid Rassoulian, Philip Ai Guthrie, Christopher R Boustred

Nat Protoc· November 2010

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