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Browsing publications by Dr Michael Wright

Newcastle AuthorsTitleYearFull text
Dr Michael Wright
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis2019
Dr Michael Wright
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals2019
Dr Miranda Splitt
Dr Michael Wright
Quantifying the contribution of recessive coding variation to developmental disorders2018
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 Michael Wright
Professor Judith Goodship
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing2016
Dr Michael Wright
B56 δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability2015
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
Professor Michael Briggs
Dr Peter Bell
Dr Michael Wright
Dr Katarzyna Pirog
New therapeutic targets in rare genetic skeletal diseases2015
Dr Michael Wright
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes2015
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
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