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Newcastle AuthorsTitleYearFull text
Professor Sir John Burn
Dr Richard Fisher
Alexander Henderson
Dr Tara Montgomery
Dr Miranda Splitt
et al.
The contribution of X-linked coding variation to severe developmental disorders2021
Dr Richard Fisher
Alexander Henderson
Dr Miranda Splitt
Professor Volker Straub
Dr Simon Zwolinski
et al.
Evidence for 28 genetic disorders discovered by combining healthcare and research data2020
Dr Richard Fisher
Professor Judith Goodship
Dr Tara Montgomery
Linda Sneddon
Dr Miranda Splitt
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 Siobhan Muthiah
Dr Simon Zwolinski
Dr Dalvir Bajwa
Dr Paul Brennan
et al.
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission2019
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Alexander Henderson
Dr Tara Montgomery
et al.
Prevalence and architecture of de novo mutations in developmental disorders2017
Gavin Cuthbert
Incidence and outcomes for adults diagnosed with acute myeloid leukemia in the north of England: a real world study2016
Gavin Cuthbert
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 Neil Rajan
CYLD Genetic Testing for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas2015
Professor Sir John Burn
Dr Richard Fisher
Professor Judith Goodship
Dr Tara Montgomery
Linda Sneddon
et al.
Large-scale discovery of novel genetic causes of developmental disorders2015
Dr Lisa Turnbull
Dr Christopher Bacon
Dr Michael Wright
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
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