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Browsing publications by Dr David Bourn.

Newcastle AuthorsTitleYearFull text
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Alexander Henderson
Dr Tara Montgomery
et al.
The contribution of X-linked coding variation to severe developmental disorders2021
Dr David Bourn
Dr Richard Fisher
Alexander Henderson
Dr Miranda Splitt
Professor Volker Straub
et al.
Evidence for 28 genetic disorders discovered by combining healthcare and research data2020
Dr David Bourn
Dr Richard Fisher
Professor Judith Goodship
Dr Tara Montgomery
Linda Sneddon
et al.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)2019
Dr Majid Arefi
Dr Valerie Wilson
Dr Siobhan Muthiah
Dr Simon Zwolinski
Dr Dalvir Bajwa
et al.
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission2019
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Alexander Henderson
et al.
Prevalence and architecture of de novo mutations in developmental disorders2017
Dr Nicholas Bown
Gavin Cuthbert
Dr David Bourn
Incidence and outcomes for adults diagnosed with acute myeloid leukemia in the north of England: a real world study2016
Dr Nicholas Bown
Gavin Cuthbert
Dr David Bourn
The effect of FLT3-ITD and NPM1 mutation on survival in intensively treated elderly patients with cytogenetically normal acute myeloid leukemia - Response to Rashidi et al2016
Dr Valerie Wilson
Dr David Bourn
Dr Neil Rajan
CYLD Genetic Testing for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas2015
Dr David Bourn
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Dr Alistair Henderson
et al.
Large-scale discovery of novel genetic causes of developmental disorders2015
Dr Lisa Turnbull
Dr David Bourn
Dr Christopher Bacon
Dr Michael Wright
Dr Mario Abinun
et al.
Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature2014
Dr Sarah Johnson
Dr Steven Hardy
Dr David Bourn
Dr Ujjal Mallick
Dr Petros Perros
et al.
Pilot of BRAF mutation analysis in indeterminate, suspicious and malignant thyroid FNA cytology2014
Professor Timothy Cheetham
Dr David Bourn
Functional polymorphisms affecting the clinically important arginine-137 residue of AVPR2 do not influence serum sodium concentration at the population level2013
Dr Stephen Ball
Dr Martin Ward Platt
Dr David Bourn
Professor Timothy Cheetham
Utility of genetic testing in suspected familial cranial diabetes insipidus2013
Dr Lisa Turnbull
Dr David Bourn
Dr Michael Wright
Dr Christopher Bacon
Dr Mario Abinun
et al.
Granulomatous inflammation at presentation of severe T cell immunodeficiency due to RMRP mutation (cartilage-hair hypoplasis)2012
Dr Lee Borthwick
Phil Botha
Dr Malcolm Brodlie
Aaron Gardner
Dr David Bourn
et al.
Is CFTR-delF508 Really Absent from the Apical Membrane of the Airway Epithelium?2011
Dr Neil Rajan
Dr David Bourn
Catherine Roberts
Dr James Langtry
Professor Sir John Burn
et al.
A review of seven UK pedigrees with CYLD mutations: clinical implications for mutation carriers2009
Dr Sanjay Gupta
Professor Timothy Cheetham
Dr David Bourn
Dr Malcolm Coulthard
Dr Stephen Ball
et al.
Thirst perception and arginine vasopressin production in a kindred with an activating mutation of the type 2 vasopressin receptor: the pathophysiology of nephrogenic syndrome of inappropriate antidiuresis2009
Dr Neil Rajan
Dr Hazel Powell
Dr James Langtry
Dr Andrew Carmichael
Dr David Bourn
et al.
Two novel CYLD mutations associated with Brooke-Spiegler syndrome2009
Dr David Bourn
Dr Lisa Turnbull
Audit of microsatellite instability testing procedures in moderate risk bowel cancer families2007
Daniel Routledge
Dr David Bourn
Dr Nicholas Bown
Mike Cole
Professor Andrew Gennery
et al.
Quantitative assessment of mixed chimerism in allogeneic stem cell transplant patients - A comparison of molecular genetic and cytogenetic approaches2007
Dr Aileen Taylor
Rose Watson
Dr David Bourn
ABCA12 is the major harlequin ichthyosis gene2006
Dr Julian Venables
Dr Lisa Turnbull
Dr David Bourn
Dr Martha Lucia Diaz Torres
Dr Michael Jackson
et al.
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene2006
Dr David Bourn
Daniel Routledge
Dr Ann Curtis
Integration of the Qiagen M48 and EZ1 DNA extraction robots into routine practice.2005
Dr Stephen Barton
Dr David Bourn
Professor Judith Goodship
Dr Lisa Turnbull
Dr Ann Curtis
et al.
Mutation screening in Ellis-van Creveld syndrome by direct sequencing: an evaluation of the use of robotics and sequence analysis packages.2005
Dr Nicholas Bown
Dr David Bourn
Quantitative assessment of mixed chimerism in bone marrow transplant patients: a comparison of molecular genetic and cytogenetic approaches.2005