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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
Professor 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
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
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
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
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