Publications by authors named "David O Robinson"

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DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Ricky S Joshi, Paras Garg, Noah Zaitlen, Tuuli Lappalainen, Corey T Watson, David O Robinson

Am J Hum Genet· September 2016

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Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.
William J Tapper, Nicola Foulds, Nicholas C P Cross, Paula Aranaz, Joannah Score, David O Robinson

PLoS One· October 2014

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Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.
James S Ware, Shibu John, Angharad M Roberts, Rachel Buchan, Sungsam Gong, David O Robinson

J Cardiovasc Transl Res· February 2013

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The use of mouth brushings for screening girls who present with inguinal hernia for complete androgen insensitivity syndrome.
Shakeel M Rahman, Nigel J Hall, John A Crolla, David O Robinson, Michael P Stanton

Eur J Pediatr Surg· April 2012

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Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; p.Gly12Ala point mutation.
David O Robinson, David Hilton-Jones, David Mansfield, Göran Darius Hildebrand, Sophie Marks

Neuromuscul Disord· November 2011

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Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer.
Zandra C Deans, Justyna Tull, Gemma Beighton, Stephen Abbs, David O Robinson

Genet Test Mol Biomarkers· November 2011

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Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
Andrew J Sharp, Eugenia Migliavacca, Yann Dupre, Elisavet Stathaki, Mohammad Reza Sailani, David O Robinson

Genome Res· September 2010

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Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Preeti Bakrania, Sibel A Ugur Iseri, Alexander W Wyatt, Dave J Bunyan, Wayne W K Lam, David O Robinson

Am J Med Genet A· May 2010

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Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6.
Marco Castori, Luana Barboni, Philippa J Duncan, Mauro Paradisi, Luigi Laino, David O Robinson

Am J Med Genet A· August 2009

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Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
Rodney D Gilbert, Claire L S Turner, Jane Gibson, Paul S Bass, Mushfequr R Haq, David O Robinson

Kidney Int· February 2009

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Multiple de novo mutations in the MECP2 gene.
David J Bunyan, David O Robinson

Genet Test· September 2008

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
Deborah J G Mackay, Jonathan L A Callaway, Sophie M Marks, Helen E White, Carlo L Acerini, David O Robinson

Nat Genet· August 2008

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Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
Sibel Kantarci, Nicola K Ragge, N Simon Thomas, David O Robinson, Kristin M Noonan

Am J Med Genet A· July 2008

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A case of rare recessive oculopharyngeal muscular dystrophy (OPMD) coexisting with hereditary neuropathy with liability to pressure palsies (HNPP).
Eleanor A Marsh, David O Robinson

Clin Neurol Neurosurg· May 2008

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Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
David O Robinson, Rachel J Howarth, Kathleen A Williamson, Veronica van Heyningen, Sarah J Beal

Am J Med Genet A· March 2008

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Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.
Preeti Bakrania, Maria Efthymiou, Johannes C Klein, Alison Salt, David J Bunyan, David O Robinson

Am J Hum Genet· February 2008

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Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland.
Simon C Ramsden, Zandra Deans, David O Robinson, Roger Mountford, Erik A Sistermans

Genet Test· June 2007

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Siblings with recessive oculopharyngeal muscular dystrophy.
Srisha Hebbar, Michael J Webberley, Peter Lunt, David O Robinson

Neuromuscul Disord· March 2007

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Simultaneous MLPA-based multiplex point mutation and deletion analysis of the dystrophin gene.
David J Bunyan, Alison C Skinner, Emma J Ashton, Julie Sillibourne, Tom Brown, David O Robinson

Mol Biotechnol· February 2007

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Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.
Tatjana Milenkovic, Jelena Martic, David O Robinson, Deborah J G Mackay, Katarina Petrovic

J Pediatr Endocrinol Metab· November 2006

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Towards an understanding of congenital ptosis.
Tristan F W McMullan, David O Robinson, Anthony G Tyers

Orbit· September 2006

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Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers.
Ellen R Copson, Helen E White, Jeremy P Blaydes, David O Robinson, Peter W Johnson

BMC Cancer· March 2006

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Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology.
Deborah J G Mackay, I Karen Temple, Julian P H Shield, David O Robinson

Hum Genet· March 2005

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Oculopharyngeal muscular dystrophy (OPMD): analysis of the PABPN1 gene expansion sequence in 86 patients reveals 13 different expansion types and further evidence for unequal recombination as the mutational mechanism.
David O Robinson, Simon R Hammans, Steven P Read, Julie Sillibourne

Hum Genet· March 2005

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The distinguishing sequence characteristics of mouse imprinted genes.
Xiayi Ke, N Simon Thomas, David O Robinson, Andrew Collins

Mamm Genome· November 2002

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