Toggle Main Menu Toggle Search

Open Access padlockePrints

Browsing publications by Dr Michael Wright.

Newcastle AuthorsTitleYearFull text
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 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
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
Dr Simon Zwolinski
Dr Michael Wright
3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?2013
Dr Michael Wright
Ablepharon Macrostomia Syndrome: A Distinct Genetic Entity Clinically Related to the Group of FRAS-FREM Complex Disorders2013
Dr Michael Wright
Clinical management of achondroplasia2012
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 Sally Lynch
Professor Judith Goodship
Dr Michael Wright
Dr Richard Fisher
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum2012
Dr Brian Wilson
Dr Simon Zwolinski
Dr Michael Wright
Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome2012
Dr Michael Wright
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis2012
Dr Michael Wright
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder2012
Dr Michael Wright
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals2012
Dr Michael Wright
Mutations in the pre-replication complex cause Meier-Gorlin syndrome2011
Dr Robert Tinnion
Dr Neil Davidson
Dr Michael Wright
Dr Sundeep Harigopal
Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis2011
Dr Michael Wright
Dr Rob Forsyth
Update on genetic investigation of children and young people with neurodevelopmental disorders2010
Dr Kate Owen
Professor Simon Pearce
Dr Michael Wright
Dr Timothy Cheetham
Discordance for X-Linked Hypophosphataemic Rickets in Identical Twin Girls2009
Sue Thompson
Dr Tom Shakespeare
Dr Michael Wright
Medical and social aspects of the life course for adults with a skeletal dysplasia: A review of current knowledge2008
Dr Tom Shakespeare
Dr Michael Wright
Sue Thompson
A small matter of equality: living with restricted growth2007
Dr Michael Wright
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia2007
Dr Stuart Tompson
Dr Victor Ruiz-Perez
Dr Helen Blair
Dr Michael Wright
Professor Judith Goodship
et al.
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients2007
Dr Michael Wright
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia2006
Dr Michael Wright
Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin a mutations2006
Dr Michael Wright
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia2005
Dr Michael Wright
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies2005
Dr Edwin Williams
Dr Michael Wright
Dr Andrea Clarke
Early onset seizures and Rett-like features associated with mutations in CDKL52005
Dr Michael Wright
Factor XIII deficiency: New nonsense and deletion mutations in the human factor XIIIA gene2005
Dr Michael Wright
Clinical and Radiographic Findings in Multiple Epiphyseal Dysplasia Caused by MATN3 Mutations: Description of 12 Patients2004
Dr Anne Lampe
Professor Volker Straub
Dr Michael Wright
Dr Sara Brown
Emerita Professor Katherine Bushby
et al.
Congenital muscular dystrophy with short stature, proximal contractures and distal laxity2004
Dr Michael Wright
Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia2004
Dr Michael Wright
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum2004
Dr Michael Wright
Multiple Epiphyseal Dysplasia, Dominant2003
Dr Victor Ruiz-Perez
Dr Stuart Tompson
Dr Helen Blair
Dr Michael Wright
Professor Judith Goodship
et al.
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome2003
Dr Michael Wright
SALL4 mutations result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, Acro-Reno-Ocular syndrome and patients previously reported to represent Thalidomide Embryopathy2003
Dr Elizabeth Jones
Dr Simon Zwolinski
Dr Sally Lynch
Dr Michael Wright
Characterisation of a family with an interstitial 11p duplication2002
Dr Michael Wright
The psychosocial aspects of skeletal dysplasia and the impact of molecular genetic diagnosis - An exploratory study2002
Joel Sher
Dr Michael Wright
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII2000
Dr Victor Ruiz-Perez
Dr Michael Wright
Professor Judith Goodship
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis2000
Dr Michael Wright
M Charlton
Professor Liam Donaldson
Professor Sir John Burn
Limb reduction defects in the northern region of England 1985-921995