Christopher R. Boustred

National Institute For Health Research Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute Of Child Health, Great Ormond Street Hospital For Children NHS Foundation Trust, The Clinical Genetics Department And St. John's Institute Of Dermatology, Guy's And St. Thomas' NHS Foundation Trust, St. Mary's Hospital
Sheffield, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 21 publications

The genomic landscape of familial glioma.

The genomic landscape of familial glioma.

Journal: Science advances
Published: April 28, 2023

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

Journal: The European respiratory journal
Published: January 25, 2022

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

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

Journal: The New England journal of medicine
Published: November 10, 2021

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Journal: American journal of human genetics
Published: April 26, 2021

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

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

Journal: European journal of human genetics : EJHG
Published: March 20, 2019

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.

Journal: Clinical genetics
Published: September 29, 2017

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

Journal: Thorax
Published: January 16, 2017

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

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

Journal: Atherosclerosis
Published: December 08, 2016

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

Journal: Advances in experimental medicine and biology
Published: October 19, 2016

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Journal: Nature communications
Published: July 20, 2016

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Journal: Brain : a journal of neurology
Published: April 22, 2016

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

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

Journal: American journal of human genetics
Published: July 02, 2015
Showing 1-12 of 21

Last Updated: 09/26/2026