Publications by Dr David Bourn - ePrints

Browsing publications by Dr David Bourn.

Newcastle Authors	Title	Year
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 disorders	2021
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 data	2020
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 transmission	2019
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 disorders	2017
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 study	2016
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 al	2016
Dr Valerie Wilson Dr David Bourn Professor Neil Rajan	CYLD Genetic Testing for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas	2015
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 disorders	2015
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 Stature	2014
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 cytology	2014
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 level	2013
Dr Stephen Ball Dr Martin Ward Platt Dr David Bourn Professor Timothy Cheetham	Utility of genetic testing in suspected familial cranial diabetes insipidus	2013
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
Professor 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 carriers	2009
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 antidiuresis	2009
Professor Neil Rajan Dr Hazel Powell Dr James Langtry Dr Andrew Carmichael Dr David Bourn et al.	Two novel CYLD mutations associated with Brooke-Spiegler syndrome	2009
Dr David Bourn Dr Lisa Turnbull	Audit of microsatellite instability testing procedures in moderate risk bowel cancer families	2007
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 approaches	2007
Dr Aileen Taylor Rose Watson Dr David Bourn	ABCA12 is the major harlequin ichthyosis gene	2006
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 gene	2006
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