M. Wright

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

J. Crolla, N. Atkey, I. Cross, 1996, Journal of medical genetics.

The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals

G. Mortier, R. Tenconi, S. Mrusek, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Lyn deficiency reduces GATA-1, EKLF and STAT5, and induces extramedullary stress erythropoiesis

W. Erber, S. Klinken, E. Ingley, 2005, Oncogene.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

J. Hoffman, G. Mandrile, F. Faravelli, 2013, European journal of medical genetics.

Early onset seizures and Rett-like features associated with mutations in CDKL5

J. Gécz, D. Cooper, A. Clarke, 2005, European Journal of Human Genetics.

Quantifying the contribution of recessive coding variation to developmental disorders

James D Stephenson, Patrick J. Short, Andrew R. Bassett, 2017, Science.

Autosomal recessive coding variants explain only a small proportion of undiagnosed developmental disorders in the British Isles

James D Stephenson, Patrick J. Short, M. Hurles, 2017 .

The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

M. Polymeropoulos, J. Weissenbach, J. Goodship, 1996, Genomics.

Further delineation of phenotypic spectrum of SCN2A‐related disorder

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

G. Mortier, J. Hellemans, A. De Paepe, 2006, Human mutation.

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

M. Hurles, C. Lelliott, B. Yalcin, 2022, bioRxiv.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

Novel and recurrent mutations in the C‐terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia – multiple epiphyseal dysplasia disease group

G. Mortier, J. Bella, M. Wright, 2005, Human mutation.

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, American journal of medical genetics. Part A.

Multiple Epiphyseal Dysplasia, Dominant

G. Mortier, M. Wright, Briggs, 2003 .

Update on genetic investigation of children and young people with neurodevelopmental disorders

R. Forsyth, M. Wright, K. Horridge, 2010 .

New therapeutic targets in rare genetic skeletal diseases

M. Wright, K. A. Pirog, M. Briggs, 2015, Expert opinion on orphan drugs.

Multiple Epiphyseal Dysplasia, Autosomal Dominant

G. Mortier, M. Wright, M. Briggs, 2015 .

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

G. Mortier, H. Omran, A. Zankl, 2005, American journal of medical genetics. Part A.

Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum

R. Hennekam, Y. Crow, M. Hannibal, 2004, Journal of Medical Genetics.

Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.

K. Khair, M. Wright, A. Minford, 2005, Haematologica.

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

J. Bonaventure, L. Gibbs, B. Zabel, 2006, European Journal of Human Genetics.

Fibroblasts derived from patients with opsismodysplasia display SHIP2‐specific cell migration and adhesion defects

C. Erneux, V. Cormier-Daire, M. Wright, 2017, Human mutation.

Interstitial microduplication 12q13.2–q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf–Hirschhorn syndrome

S. Hellens, M. Wright, S. Zwolinski, 2012, Clinical dysmorphology.

Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII

M. Wright, R. Mueller, F. Pope, 2000, Journal of medical genetics.

Exome sequencing identiﬁes GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deﬁciency

N. McGovern, M. Haniffa, B. Keavney, 2011 .

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

J. Gécz, B. D. de Vries, J. Clayton-Smith, 2004, Clinical genetics.

Mosaic structural variation in children with developmental disorders

Tom R. Gaunt, Hashem A. Shihab, Blair H. Smith, 2015, Human molecular genetics.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

N. Rahman, D. Gisselsson, J. Clayton-Smith, 2011, Nature Genetics.

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders

E. Zackai, C. Stevens, F. Brancati, 2013, American journal of medical genetics. Part A.

cell, monocyte, B and NK lymphoid deficiency Exome sequencing identifies GATA-2 mutation as the cause of dendritic

N. McGovern, B. Keavney, David McDonald, 2013 .

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Bernard Keavney, Patrick F Chinnery, John Loughlin, 2011, Blood.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

Long interspersed nuclear element‐1 (LINE1)‐mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence

J. Goodship, P. Lapunzina, G. Cocchi, 2008, Human mutation.

Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis–van Creveld syndrome patients

J. Goodship, M. Wright, H. Blair, 2006, Human Genetics.

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

J. Goodship, P. Lapunzina, B. Hamel, 2003, American journal of human genetics.

Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4

J. Goodship, M. Wright, S. Tompson, 2001, Journal of medical genetics.

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

J. Bonaventure, L. Gibbs, B. Zabel, 2006, European Journal of Human Genetics.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

G. Mortier, A. Zankl, B. Zabel, 2007, European Journal of Human Genetics.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

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

G. Kokai, D. Bourn, M. Wright, 2013, Journal of Clinical Immunology.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Molecular and clinical heterogeneity in CLCN7‐dependent osteopetrosis: report of 20 novel mutations

E. Lanino, I. Tezcan, S. Phadke, 2010, Human mutation.

Principles for high-quality, high-value testing

M. Wright, G. Fell, M. Power, 2012, Evidence-Based Medicine.

Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24.

J. Goodship, H. Gill, M. Splitt, 2000, American journal of human genetics.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004, Journal of Medical Genetics.

Missense mutations in the b strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

O. Mäkitie, G. Mortier, L. Ala‐Kokko, 2004 .

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

R. Pfundt, W. Chung, B. Gener, 2018, American journal of human genetics.

Borjeson-Forssman-Lehmann Syndrome and Multiple Pituitary Hormone Deficiency

A. Lampe, M. Wright, J. Gecz, 2003, Journal of pediatric endocrinology & metabolism : JPEM.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia

W. Newman, M. Wright, S. Ramsden, 2005, European Journal of Human Genetics.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

M. Polymeropoulos, T. Meitinger, T. Strom, 2000, Nature Genetics.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.