F. Togneri

Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing

P. Quirke, F. Brew, H. Wood, 2017, BMC Medical Genomics.

Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases

R. Morris, M. Kilby, E. Quinlan-Jones, 2019, Prenatal diagnosis.

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta‐analysis

D. McMullan, D. Williams, S. Hillman, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Axenfeld‐Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

L. Brueton, D. Lim, D. McMullan, 2014, American journal of medical genetics. Part A.

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

Phil Quirke, Fiona Brew, Joseph M Foster, 2015, BMC Medical Genomics.

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Rachel M. Brown, M. Simpson, L. Mulligan, 2016, Human molecular genetics.

Genomic complexity of urothelial bladder cancer revealed in urinary cfDNA

Fabiana Ramos Vasques, M. Zeegers, N. James, 2016, European Journal of Human Genetics.

Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory

M. Kilby, Denise Williams, S. Allen, 2019, Genetics research.

Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

M. Kilby, E. Quinlan-Jones, J. Vogt, 2020, Clinical case reports.

Comparing mutation calls in fixed tumour samples between the affymetrix OncoScan® array and PCR based next-generation sequencing

P. Quirke, F. Brew, H. Wood, 2017, BMC Medical Genomics.