Staff Profile

Research Interests

The chondrodysplasias are a group of disorders characterised by abnormalities of bone growth. The clinical and radiographic delineation of these conditions is now aided in many cases by an understanding of the underlying molecular pathology. Along with Professor Judith Goodship and collaborators in seven other centres, I am involved in an EU funded program to provide and study the provision of clinical and molecular diagnosis for people with chondrodysplasias. This is the European Skeletal Dysplasia Network.

Disorders of connective tissue provided similar clinical and diagnostic challenges and I have recently established a collaboration with Dr. Anne de Paepe’s group at the University of Gent to study Ehlers Danlos syndrome Type III.

Abnormalities of tooth development are common in humans. The molecular basis of this is currently poorly understood. Dr. Heiko Peters, a team led by Dr. Ross Hobson of the University of Newcastle Dental School and I have recently obtained funding to study this in a group of patients in the North East of England.

• Deciphering Developmental Disorders Study, Study authors include, Bourn D, Burn J, Fisher R, Goodship J, Hellens S, Henderson A, Montgomery T, Sneddon L, Splitt M, Straub V, Wright M, Yates L. Prevalence and architecture of de novo mutations in developmental disorders. Nature 2017, 542, 433-438.
• Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Al Turki SH, Thienpont B, Mcrae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UMM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PEF, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME, INTERVAL Study, UK10K Consortium, Deciphering Dev Disorders Study. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics 2016, 48(9), 1060-1065.
• Houge G, Haesen D, Vissers LELM, Mehta S, Parker MJ, Wright M, Vogt J, Mckee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MRF, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen IL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Doskeland SD, Hurles ME, FitzPatrick DR, Janssens V, Deciphering Dev Disorders DDD. B56 δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. Journal of Clinical Investigation 2015, 125(8), 3051-3062.
• Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, Barrett DM, Bayzetinova T, Clayton S, Coomber EL, Gribble S, Jones P, Krishnappa N, Mason LE, Middleton A, Miller R, Prigmore E, Rajan D, Sifrim A, Tivey AR, Ahmed M, Akawi N, Andrews R, Anjum U, Archer H, Armstrong R, Balasubramanian M, Banerjee R, Baralle D, Batstone P, Baty D, Bennett C, Berg J, Bernhard B, Bevan AP, Blair E, Blyth M, Bohanna D, Bourdon L, Bourn D, Brady A, Bragin E, Brewer C, Brueton L, Brunstrom K, Bumpstead SJ, Bunyan DJ, Burn J, Burton J, Canham N, Castle B, Chandler K, Clasper S, Clayton-Smith J, Cole T, Collins A, Collinson MN, Connell F, Cooper N, Cox H, Cresswell L, Cross G, Crow Y, D'Alessandro M, Dabir T, Davidson R, Davies S, Dean J, Deshpande C, Devlin G, Dixit A, Dominiczak A, Donnelly C, Donnelly D, Douglas A, Duncan A, Eason J, Edkins S, Ellard S, Ellis P, Elmslie F, Evans K, Everest S, Fendick T, Fisher R, Flinter F, Foulds N, Fryer A, Fu B, Gardiner C, Gaunt L, Ghali N, Gibbons R, Pereira SLG, Goodship J, Goudie D, Gray E, Greene P, Greenhalgh L, Harrison L, Hawkins R, Hellens S, Henderson A, Hobson E, Holden S, Holder S, Hollingsworth G, Homfray T, Humphreys M, Hurst J, Ingram S, Irving M, Jarvis J, Jenkins L, Johnson D, Jones D, Jones E, Josifova D, Joss S, Kaemba B, Kazembe S, Kerr B, Kini U, Kinning E, Kirby G, Kirk C, Kivuva E, Kraus A, Kumar D, Lachlan K, Lam W, Lampe A, Langman C, Lees M, Lim D, Lowther G, Lynch SA, Magee A, Maher E, Mansour S, Marks K, Martin K, Maye U, McCann E, McConnell V, McEntagart M, McGowan R, McKay K, McKee S, McMullan DJ, McNerlan S, Mehta S, Metcalfe K, Miles E, Mohammed S, Montgomery T, Moore D, Morgan S, Morris A, Morton J, Mugalaasi H, Murday V, Nevitt L, Newbury-Ecob R, Norman A, O'Shea R, Ogilvie C, Park S, Parker MJ, Patel C, Paterson J, Payne S, Phipps J, Pilz DT, Porteous D, Pratt N, Prescott K, Price S, Pridham A, Procter A, Purnell H, Ragge N, Rankin J, Raymond L, Rice D, Robert L, Roberts E, Roberts G, Roberts J, Roberts P, Ross A, Rosser E, Saggar A, Samant S, Sandford R, Sarkar A, Schweier S, Scott C, Scott R, Selby A, Seller A, Sequeira C, Shannon N, Shanrif S, Shaw-Smith C, Shearing E, Shears D, Simonic I, Simpkin D, Singzon R, Skitt Z, Smith A, Smith B, Smith K, Smithson S, Sneddon L, Splitt M, Squires M, Stewart F, Stewart H, Suri M, Sutton V, Swaminathan GJ, Sweeney E, Tatton-Brown K, Taylor C, Taylor R, Tei M, Temple IK, Thomson J, Tolmie J, Torokwa A, Treacy B, Turner C, Turnpenny P, Tysoe C, Vandersteen A, Vasudevan P, Vogt J, Wakeling E, Walker D, Waters J, Weber A, Wellesley D, Whiteford M, Widaa S, Wilcox S, Williams D, Williams N, Woods G, Wragg C, Wright M, Yang F, Yau M, Carter NP, Parker M, Firth HV, FitzPatrick DR, Wright CF, Barrett JC, Hurles ME, Deciphering Dev Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015, 519(7542), 223-228.
• Briggs MD, Bell PA, Wright MJ, Pirog KA. New therapeutic targets in rare genetic skeletal diseases. Expert Opinion on Orphan Drugs 2015, 3(10), 1137-1154.
• Piard J, Aral B, Vabres P, Holder-Espinasse M, Megarbane A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, Gonzalez-Ensenat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Genevieve D, Thevenon J, Courcet JB, Riviere JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. Clinical Genetics 2015, 87(3), 244-251.
• McCann LJ, McPartland J, Barge D, Strain L, Bourn D, Calonje E, Verbov J, Riordan A, Kokai G, Bacon CM, Wright M, Abinun M. 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. Journal of Clinical Immunology 2014, 34(1), 42-48.
• Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F. 3q26.33-3q27.2 microdeletion: A new microdeletion syndrome?. European Journal of Medical Genetics 2013, 56(4), 216-221.
• Schanze D, Harakalova M, Stevens CA, Brancati F, Dallapiccola B, Farndon P, Ferraz VEF, McDonald-McGinn DM, Zackai EH, Wright M, van Lieshout S, Vogel MJ, van Haelst MM, Zenker M. Ablepharon Macrostomia Syndrome: A Distinct Genetic Entity Clinically Related to the Group of FRAS-FREM Complex Disorders. American Journal of Medical Genetics Part A 2013, 161(12), 3012-3017.
• Wright MJ, Irving MD. Clinical management of achondroplasia. Archives of Disease in Childhood 2012, 97(2), 129-134.
• McCann LJ, McPartland J, Barge D, Strain L, Calonje E, Verbov J, Riordan A, Bourn D, Wright M, Bacon C, Kokai G, Abinun M. Granulomatous inflammation at presentation of severe T cell immunodeficiency due to RMRP mutation (cartilage-hair hypoplasis). In: 15th Biennial Meeting European Society for Immunodeficiency (ESID). 2012, Florence, Italy: Springer.
• Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VPM, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WWK, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, Garcia-Minaur S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, de Silva DC, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics 2012, 20(4), 381-388.
• Wilson BT, Hellens SW, Breese GJ, Zwolinski SA, Wright MJ. Interstitial microduplication 12q13.2-q13.3 in a patient with dysmorphism, developmental delay, atypical seizures and hypospadias: not a phenocopy of Wolf-Hirschhorn syndrome. Clinical Dysmorphology 2012, 21(4), 196-199.
• de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MCE, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CTRM, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NVAM, Brunner HG, Jackson AP, Bongers EMHF. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. European Journal of Human Genetics 2012, 20(6), 598-606.
• de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MCE, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CTRM, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NVAM, Brunner HG, Jackson AP, Bongers EMHF. Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder. American Journal of Medical Genetics Part A 2012, 158A(11), 2733-2742.
• Segarra NG, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafe L. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2012, 160C(3), 217-229.
• Bicknell LS, Bongers EMHF, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PAJ, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NVAM, MacKenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics 2011, 43(4), 356-U156.
• Tinnion RJ, Davidson N, Moran P, Wright M, Harigopal S. Rhizomelic chondrodysplasia punctata: a classic 'spot' diagnosis. BMJ Group, 2011. Available at: http://dx.doi.org/10.1136/bcr.01.2011.3747.
• Kettle C, Hellens SW, Stewart A, Wright MJ, Zwolinski SA. A large non-heterochromatic neo-centromeric marker with unidentifiable origin. In: JOURNAL OF MEDICAL GENETICS. 2007, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND: B M J PUBLISHING GROUP.
• Hellens S, Zwolinski SA, Wright MJ, Splitt MP. Micro-array comparative genomic hybridisation array CGH) analysis of over 90 unrelated patients with dysmorphic features and mental retardatione. In: JOURNAL OF MEDICAL GENETICS. 2007, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND: B M J PUBLISHING GROUP.
• Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Dominant. Seattle, USA: University of Washington, 2003.
• Ruiz-Perez VL, Tompson SWJ, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. American Journal of Human Genetics 2003, 72(3), 728-732.
• Kohlhase J, Schubert L, Liebers M, Hennekam RCM, Rauch A, Becker K, Mohammed SN, Wright M, Hannibal MC, Newbury-Ecob R, Reardon W. 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. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Jones E, Crolla JA, Zwolinski SA, Lynch SA, Wright MJ. Characterisation of a family with an interstitial 11p duplication. In: Journal of Medical Genetics: British Human Genetics Conference. 2002, York: BMJ Group.
• Alam S, Macleod R, Donnai D, Craufurd D, Wright M. The psychosocial aspects of skeletal dysplasia and the impact of molecular genetic diagnosis - An exploratory study. In: European Journal of Human Genetics: European Society of Human Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics. 2002, Strasbourg, France: Nature Publishing Group.
• Tompson SW, Ruiz-Perez VL, Wright MJ, Goodship JA. Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4. Journal of Medical Genetics 2001, 38(6), e18.
• Nicholls AC, Sher JL, Wright MJ, Oley C, Mueller RF, Pope FM. Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VII. Journal of Medical Genetics 2000, 37(11), E33.
• Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nature Genetics 2000, 24(3), 283-286.