Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome
Interstitial deletions of 7q11.23 cause Williams–Beuren syndrome, one of the best
characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal …
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; …
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
Objective To determine the incremental yield of antenatal exome sequencing (ES) over
chromosomal microarray analysis (CMA) or conventional karyotyping in prenatally diagnosed …
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’…
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 …
Background Repeat expansion disorders affect about 1 in 3000 individuals and are clinically
heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic …
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 …
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
Discovery of most autosomal recessive disease-associated genes has involved analysis of
large, often consanguineous multiplex families or small cohorts of unrelated individuals with …
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 …
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 …
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 …
requires rigorous validation of analytical performance. The OncoScan® FFPE Assay is a …