Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome

…, K Männik, A Kurg, T Reimand, D McMullan… - European journal of …, 2009 - Elsevier
Interstitial deletions of 7q11.23 cause Williams–Beuren syndrome, one of the best
characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal …

[HTML][HTML] Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord, DJ McMullan, RY Eberhardt, G Rinck… - The Lancet, 2019 - thelancet.com
Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; …

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review

…, RK Morris, ME Hurles, DJ McMullan… - … in Obstetrics & …, 2021 - Wiley Online Library
Objective To determine the incremental yield of antenatal exome sequencing (ES) over
chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed …

FUS/ERG Gene Fusions in Ewing's Tumors

DC Shing, DJ McMullan, P Roberts, K Smith, SF Chin… - Cancer research, 2003 - AACR
Ewing’s tumors are rare pediatric neoplasms that are characterized by specific chromosomal
translocations and gene rearrangements. All of the fusion genes reported to date in Ewing’…

[HTML][HTML] Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective …

…, S Ellard, IK Temple, A Mumford, D McMullan… - The Lancet …, 2022 - thelancet.com
Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

…, SC Hillman, V Parthiban, DJ McMullan… - Human molecular …, 2014 - academic.oup.com
The genetic etiology of non-aneuploid fetal structural abnormalities is typically investigated
by karyotyping and array-based detection of microscopically detectable rearrangements, and …

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

…, A Kumar, M Lees, C Lelliott, J Lord, D McMullan… - Nature …, 2015 - nature.com
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …

[HTML][HTML] Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA

…, P Taniere, KG Spink, DJ McMullan… - European Journal of …, 2016 - nature.com
Urothelial bladder cancers (UBCs) have heterogeneous clinical characteristics that are mirrored
in their diverse genomic profiles. Genomic profiling of UBCs has the potential to benefit …

Ploidy and karyotype complexity are powerful prognostic indicators in the Ewing's sarcoma family of tumors: a study by the United Kingdom Cancer Cytogenetics and …

…, C Johnston, MJ Griffiths, DJ McMullan… - Genes …, 2008 - Wiley Online Library
Ewing's sarcoma family tumors (ESFT) are characterized by the presence of EWSR1‐ETS
fusion genes. Secondary chromosome changes are frequently described, although their …

[HTML][HTML] Cross-laboratory validation of the OncoScan® FFPE Assay, a multiplex tool for whole genome tumour profiling

…, I Halfpenny, DJ McMullan… - BMC medical …, 2015 - Springer
Background Adoption of new technology in both basic research and clinical settings
requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a …