Publications by authors named "Victoria Murday"

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Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes , and .
Katrina A Andrews, David B Ascher, Douglas Eduardo Valente Pires, Daniel R Barnes, Lindsey Vialard, Victoria Murday

J Med Genet· June 2018

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Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
Mira Kharbanda, Amanda Hunter, Stephen Tennant, David Moore, Stephanie Curtis, Victoria Murday

Eur J Med Genet· May 2017

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Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in .
Gillian Rea, Tessa Homfray, Jan Till, Ferran Roses-Noguer, Rachel J Buchan, Victoria Murday

Cold Spring Harb Mol Case Stud· January 2017

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Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
Laurence M Nunn, Luis R Lopes, Petros Syrris, Cian Murphy, Vincent Plagnol, Victoria Murday

Europace· June 2016

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A de-novo deletion of dystrophin provoking severe 'peri-partum cardiomyopathy': The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers.
Ayesha Ahmed, Stefan Spinty, Victoria Murday, Cheryl Longman, Aleem Khand

Int J Cardiol· January 2016

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Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.
Mohammad Movahedi, D Timothy Bishop, Finlay Macrae, Jukka-Pekka Mecklin, Gabriela Moeslein, Victoria Murday

J Clin Oncol· November 2015

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Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
Thomas M Beckermann, Karen McLeod, Victoria Murday, Franck Potet, Alfred L George

Heart Rhythm· August 2014

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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Joe Rainger, Davut Pehlivan, Stefan Johansson, Hemant Bengani, Luis Sanchez-Pulido, Victoria Murday

Am J Hum Genet· June 2014

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Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
John C Mathers, Mohammad Movahedi, Finlay Macrae, Jukka-Pekka Mecklin, Gabriela Moeslein, Victoria Murday

Lancet Oncol· December 2012

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Clinical features and respiratory complications in Myhre syndrome.
Ruth McGowan, Ramkumar Gulati, Pamela McHenry, Alexander Cooke, Sandra Butler, Victoria Murday

Eur J Med Genet· January 2012

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Diagnostic use of skeletal survey in suspected skeletal dysplasia.
Amith Kumar Iynapillai Veeramani, Paul Higgins, Sandra Butler, Malcolm Donaldson, Elizabeth Dougan, Victoria Murday

J Clin Res Pediatr Endocrinol· December 2011

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Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.
Phey M Yeap, Edward S Tobias, Eleni Mavraki, Alexander Fletcher, Nicola Bradshaw, Victoria A Murday

J Clin Endocrinol Metab· December 2011

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Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial.
John Burn, Anne-Marie Gerdes, Finlay Macrae, Jukka-Pekka Mecklin, Gabriela Moeslein, Victoria Murday

Lancet· December 2011

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).
Pia Ostergaard, Michael A Simpson, Fiona C Connell, Colin G Steward, Glen Brice, Victoria A Murday

Nat Genet· September 2011

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Andersen-Tawil syndrome.
Robin A P Weir, Colin J Petrie, Victoria Murday, Iain N Findlay

Int J Cardiol· April 2011

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Novel features in auriculo-condylar syndrome.
Ruth McGowan, Victoria Murday, Esther Kinning, Sixto Garcia, David Koppel

Clin Dysmorphol· January 2011

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Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
Sahar Mansour, Fiona Connell, Colin Steward, Pia Ostergaard, Glen Brice, Victoria Murday

Am J Med Genet A· September 2010

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X-linked cataract and Nance-Horan syndrome are allelic disorders.
Margherita Coccia, Simon P Brooks, Tom R Webb, Katja Christodoulou, Izabella O Wozniak, Victoria Murday

Hum Mol Genet· July 2009

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Andrew J Sharp, Heather C Mefford, Kelly Li, Carl Baker, Cindy Skinner, Victoria Murday

Nat Genet· March 2008

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Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Diana E Benn, Anne-Paule Gimenez-Roqueplo, Jennifer R Reilly, Jérôme Bertherat, John Burgess, Victoria Murday

J Clin Endocrinol Metab· March 2006

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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome.
Nicholas C M Hearle, Ian Tomlinson, Wendy Lim, Victoria Murday, Edwin Swarbrick

BMC Genomics· March 2005

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An audit of screening for familial breast cancer before 50 years in the South Thames Region - have we got it right?
Victoria Murday, R Pears, J Ball, R Eeles, S Hodgson

Fam Cancer· July 2004

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Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.
Hanne Meijers-Heijboer, Ans van den Ouweland, Jan Klijn, Marijke Wasielewski, Anja de Snoo, Victoria Murday

Nat Genet· May 2002

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