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Browsing publications by Dr Michael Wright

Newcastle AuthorsTitleYearFull text
Dr Rob Forsyth
Dr Eleri Williams
Dr Michael Wright
Dr Karin Engelhardt
Dr Dipayan Mitra
et al.		Case Report: Novel neuroinflammatory syndrome associated with TONSL-related SPONASTRIME Dysplasia2025
Dr Marion Mateos
Dr Nikhil Birdi
Dr Anna Basu
Dr Michael Wright
Dr Srinivas Annavarapu
et al.		Developmental delay and progressive seizures in 2-month-old child with diffuse MRI abnormalities2022
Dr Ruth Richardson
Dr Valerie Wilson
Dr Michael Wright
Further delineation of phenotypic spectrum of SCN2A-related disorder2022
Dr Rebecca Hall
Dr Michael Wright
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data2022
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 Michael Wright
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis2020
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 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
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