Christopher Boustred

发表

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

M. Schmidts, R. Patel-King, A. Bush, 2017, Thorax.

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

R. Scott, S. Drury, L. Chitty, 2015, Prenatal diagnosis.

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

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

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

J. Hurst, R. Scott, H. Brittain, 2016, Journal of Medical Genetics.

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

K. Spencer, V. Plagnol, L. Chitty, 2014, BMC Pregnancy and Childbirth.

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

Shane A. McCarthy, Richard D Emes, Klaudia Walter, 2017, Nature Communications.

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.

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

N. Greene, A. Copp, P. Stanier, 2018, Clinical genetics.

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation

R. Scott, S. Drury, L. Chitty, 2014, American journal of medical genetics. Part A.

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

S. Drury, L. Chitty, L. Jenkins, 2016, Advances in experimental medicine and biology.