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 abnormalities | 2022 |
|
Dr Ruth Richardson
Dr Valerie Wilson
Dr Michael Wright
| Further delineation of phenotypic spectrum of SCN2A-related disorder | 2022 |
|
Dr Rebecca Hall
Dr Michael Wright
| Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data | 2022 |
|
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 disorders | 2021 |
|
Dr Michael Wright
| The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis | 2020 |
|
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 |
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Dr Michael Wright
| The phenotype of Sotos syndrome in adulthood: A review of 44 individuals | 2019 |
|
Dr Miranda Splitt
Dr Michael Wright
| Quantifying the contribution of recessive coding variation to developmental disorders | 2018 |
|
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 disorders | 2017 |
|
Dr Michael Wright
Professor Judith Goodship
| Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing | 2016 |
|
Dr Michael Wright
| B56 δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability | 2015 |
|
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 disorders | 2015 |
|
Professor Michael Briggs
Dr Peter Bell
Dr Michael Wright
Dr Katarzyna Pirog
| New therapeutic targets in rare genetic skeletal diseases | 2015 |
|
Dr Michael Wright
| Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes | 2015 |
|
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 Stature | 2014 |
|
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 Disorders | 2013 |
|
Dr Michael Wright
| Clinical management of achondroplasia | 2012 |
|
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 spectrum | 2012 |
|
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 syndrome | 2012 |
|
Dr Michael Wright
| Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis | 2012 |
|
Dr Michael Wright
| Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder | 2012 |
|
Dr Michael Wright
| The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals | 2012 |
|
Dr Michael Wright
| Mutations in the pre-replication complex cause Meier-Gorlin syndrome | 2011 |
|
Dr Robert Tinnion
Dr Neil Davidson
Dr Michael Wright
Dr Sundeep Harigopal
| Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis | 2011 |
|
Dr Michael Wright
Dr Rob Forsyth
| Update on genetic investigation of children and young people with neurodevelopmental disorders | 2010 |
|
Dr Kate Owen
Professor Simon Pearce
Dr Michael Wright
Professor Timothy Cheetham
| Discordance for X-Linked Hypophosphataemic Rickets in Identical Twin Girls | 2009 |
|
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 knowledge | 2008 |
|
Dr Tom Shakespeare
Dr Michael Wright
Sue Thompson
| A small matter of equality: living with restricted growth | 2007 |
|
Dr Michael Wright
| Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia | 2007 |
|
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 patients | 2007 |
|
Dr Michael Wright
| Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia | 2006 |
|
Dr Michael Wright
| Periventricular heterotopia: Phenotypic heterogeneity and correlation with Filamin a mutations | 2006 |
|
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 dysplasia | 2005 |
|
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 collagenopathies | 2005 |
|
Dr Edwin Williams
Dr Michael Wright
Dr Andrea Clarke
| Early onset seizures and Rett-like features associated with mutations in CDKL5 | 2005 |
|
Dr Michael Wright
| Factor XIII deficiency: New nonsense and deletion mutations in the human factor XIIIA gene | 2005 |
|
Dr Michael Wright
| Clinical and Radiographic Findings in Multiple Epiphyseal Dysplasia Caused by MATN3 Mutations: Description of 12 Patients | 2004 |
|
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 laxity | 2004 |
|
Dr Michael Wright
| Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia | 2004 |
|
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 spectrum | 2004 |
|
Dr Michael Wright
| Multiple Epiphyseal Dysplasia, Dominant | 2003 |
|
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 syndrome | 2003 |
|
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 Embryopathy | 2003 |
|
Dr Elizabeth Jones
Dr Simon Zwolinski
Dr Sally Lynch
Dr Michael Wright
| Characterisation of a family with an interstitial 11p duplication | 2002 |
|
Dr Michael Wright
| The psychosocial aspects of skeletal dysplasia and the impact of molecular genetic diagnosis - An exploratory study | 2002 |
|
Joel Sher
Dr Michael Wright
| Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII | 2000 |
|
Dr Victor Ruiz-Perez
Dr Michael Wright
Professor Judith Goodship
| Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis | 2000 |
|
Dr Michael Wright
M Charlton
Professor Liam Donaldson
Professor Sir John Burn
| Limb reduction defects in the northern region of England 1985-92 | 1995 |
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