M
Michael Wright
Researcher at Newcastle upon Tyne Hospitals NHS Foundation Trust
Publications - 59
Citations - 3585
Michael Wright is an academic researcher from Newcastle upon Tyne Hospitals NHS Foundation Trust. The author has contributed to research in topics: Multiple epiphyseal dysplasia & Missense mutation. The author has an hindex of 30, co-authored 54 publications receiving 3094 citations. Previous affiliations of Michael Wright include Newcastle University & Centre for Life.
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Journal ArticleDOI
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Alejandro Sifrim,Marc-Phillip Hitz,Anna Wilsdon,Jeroen Breckpot,Saeed Al Turki,Saeed Al Turki,Saeed Al Turki,Bernard Thienpont,Jeremy F. McRae,Tomas W Fitzgerald,Tarjinder Singh,Ganesh J. Swaminathan,Elena Prigmore,Diana Rajan,Hashim Abdul-Khaliq,Siddharth Banka,Siddharth Banka,U.M.M. Bauer,Jamie Bentham,Felix Berger,Shoumo Bhattacharya,Frances A. Bu'Lock,Natalie Canham,Irina-Gabriela Colgiu,Catherine Cosgrove,Helen Cox,Ingo Daehnert,Allan Daly,John Danesh,John Danesh,Alan Fryer,Marc Gewillig,Emma Hobson,Kirstin Hoff,Tessa Homfray,Anne-Karin Kahlert,Ami Ketley,Hans-Heiner Kramer,Katherine Lachlan,Katherine Lachlan,Katherine Lachlan,AK Lampe,Jacoba Louw,Ashok Kumar Manickara,Dorin Manase,Karen P. McCarthy,Kay Metcalfe,Carmel Moore,Ruth Newbury-Ecob,Seham Osman Omer,Willem H. Ouwehand,Soo-Mi Park,Michael Parker,Thomas Pickardt,Martin O. Pollard,Leema Robert,David J. Roberts,David J. Roberts,David J. Roberts,Jennifer G. Sambrook,Kerry Setchfield,Brigitte Stiller,Christopher Thornborough,Okan Toka,Hugh Watkins,Denise Williams,Michael Wright,Seema Mital,Piers E.F. Daubeney,Bernard Keavney,Judith A. Goodship,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Riyadh M. Abu-Sulaiman,Sabine Klaassen,Caroline F. Wright,Helen V. Firth,Jeffrey C. Barrett,Koenraad Devriendt,David R. FitzPatrick,J. David Brook,Matthew E. Hurles +81 more
TL;DR: Exome sequenced 1,891 probands and identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1, finding evidence for distinct genetic architectures underlying the low sibling recurrence risk in S- CHD and NS-CHd.
Journal ArticleDOI
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
Victor L. Ruiz-Perez,Susan E. Ide,Susan E. Ide,Tim M. Strom,Bettina Lorenz,David I. Wilson,Kathryn Woods,Lynn Mertens King,Clair A. Francomano,Peter Freisinger,Stephanie Spranger,Bruno Marino,Bruno Dallapiccola,Michael Wright,Thomas Meitinger,Mihael H. Polymeropoulos,Judith A. Goodship +16 more
TL;DR: It is suggested that EvC and Weyers acrodental dysostosis are allelic conditions, and a new gene, encoding a 992–amino-acid protein, that is mutated in individuals with EvC is identified.
Journal ArticleDOI
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Louise S. Bicknell,Ernie M.H.F. Bongers,Andrea Leitch,Stephen Brown,Jeroen Schoots,Margaret E. Harley,Salim Aftimos,Jumana Y. Al-Aama,Michael B. Bober,Paul A.J. Brown,Hans van Bokhoven,John Dean,Alaa Y Edrees,Murray Feingold,Alan Fryer,Lies H. Hoefsloot,Nikolaus Kau,Nine V A M Knoers,James MacKenzie,John M. Opitz,Pierre Sarda,Alison Ross,I. Karen Temple,Annick Toutain,Carol Wise,Michael Wright,Andrew P. Jackson +26 more
TL;DR: It is reported here that individuals with this disorder show marked locus heterogeneity, and mutations in five separate genes are identified: ORC1, ORC4,ORC6, CDT1 and CDC6, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities.
Journal ArticleDOI
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
Victor L. Ruiz-Perez,Stuart W. Tompson,J. Helen Blair,Cecilia Espinoza-Valdez,Pablo Lapunzina,Elias O. Da Silva,Ben C.J. Hamel,John L. Gibbs,Ian D. Young,Michael Wright,Judith A. Goodship +10 more
TL;DR: It is reported that mutations in EVC2 also cause Ellis-van Creveld syndrome, a autosomal recessive skeletal dysplasia that lies in a head-to-head configuration that is conserved from fish to man.
Journal ArticleDOI
Early onset seizures and Rett-like features associated with mutations in CDKL5.
Julie Evans,Hayley Archer,James Colley,Kirstine Ravn,Jytte Bieber Nielsen,Alison Kerr,Elizabeth Williams,John Christodoulou,Jozef Gecz,Philip E. Jardine,Michael Wright,Daniela T. Pilz,L. P. Lazarou,David Neil Cooper,Julian R. Sampson,Rachel Butler,Sharon D. Whatley,Angus John Clarke +17 more
TL;DR: Novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of RTT and the other with early onset seizures and some features ofRTT.