Victoria Murday - Publications

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Journal: Journal of medical genetics

Published: October 23, 2017

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11.

Journal: Cold Spring Harbor molecular case studies

Published: January 05, 2017

Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.

Journal: European journal of medical genetics

Published: September 01, 2016

A de-novo deletion of dystrophin provoking severe 'peri-partum cardiomyopathy': The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers.

Journal: International journal of cardiology

Published: October 03, 2015

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Published: May 03, 2015

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Journal: American journal of human genetics

Published: March 24, 2014

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

Journal: Heart rhythm

Published: December 31, 2013

Impact of national guidelines on family history breast cancer surveillance.

Journal: Scottish medical journal

Published: November 18, 2011