E
Edward Blair
Researcher at University of Oxford
Publications - 61
Citations - 4712
Edward Blair is an academic researcher from University of Oxford. The author has contributed to research in topics: Hypertrophic cardiomyopathy & Mutation. The author has an hindex of 28, co-authored 58 publications receiving 4027 citations. Previous affiliations of Edward Blair include Churchill Hospital & National Institute for Health Research.
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Journal ArticleDOI
Identification of the familial cylindromatosis tumour-suppressor gene.
Graham R. Bignell,William Warren,Sheila Seal,Meiko Takahashi,Elizabeth A. Rapley,Rita Barfoot,Helen Green,Carolanne Brown,Patrick J. Biggs,Sunil R. Lakhani,Chris Jones,Juliana E. Hansen,Edward Blair,B. Hofmann,Reiner Siebert,Gwen Turner,D. Gareth Evans,Connie Schrander-Stumpel,Frits A. Beemer,Ans M.W. van den Ouweland,Dicky J. J. Halley,Bertrand Delpech,Mark G. Cleveland,Irene M. Leigh,Jaakko Leisti,Sonja A. Rasmussen,Margaret R. Wallace,Christiane Fenske,Piu Banerjee,Naoki Oiso,Ranbir Chaggar,Samantha Merrett,N Leonard,Marcel Huber,Daniel Hohl,P Chapman,John Burn,Sally Swift,Anna Smith,Alan Ashworth,Michael R. Stratton +40 more
TL;DR: The susceptibility gene (CYLD) has been identified by detecting germline mutations in 21 cylindromatosis families and somatic mutations in 1 sporadic and 5 familialcylindromas, all mutations predict truncation or absence of the encoded protein.
Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
Journal ArticleDOI
Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy
Jenifer G. Crilley,Ernest A. Boehm,Edward Blair,Bheeshma Rajagopalan,Andrew M. Blamire,Peter Styles,William J. McKenna,Ingegerd Östman-Smith,Kieran Clarke,Hugh Watkins +9 more
TL;DR: The data provide evidence of a bioenergetic deficit in genotype-confirmed HCM, which is present to a similar degree in three disease-gene groups, and supports a proposed link between altered cardiac energetics and development of the disease phenotype.
Journal ArticleDOI
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome
Gillian I. Rice,Teresa Patrick,Rekha Parmar,Claire F Taylor,Alec Aeby,Jean Aicardi,Rafael Artuch,Simon Attard Montalto,Carlos A. Bacino,Bruno Barroso,Peter Baxter,Willam S Benko,Carsten Bergmann,Enrico Bertini,Roberta Biancheri,Edward Blair,Nenad Blau,David T. Bonthron,Tracy A Briggs,Louise Brueton,Han G. Brunner,Christopher J. Burke,Ian M. Carr,Daniel R. Carvalho,Kate Chandler,Hans-Jurgen Christen,Peter Corry,Frances M. Cowan,Helen Cox,Stefano D'Arrigo,John Dean,Corinne De Laet,Claudine De Praeter,Catherine Dery,Colin D. Ferrie,Kim Flintoff,Suzanna G.M. Frints,Angels García-Cazorla,Blanca Gener,Cyril Goizet,Francoise Goutieres,Andrew Green,Agnes Guet,Ben C.J. Hamel,Bruce E. Hayward,Arvid Heiberg,Raoul C.M. Hennekam,Marie Husson,Andrew P. Jackson,Rasieka Jayatunga,Yong-hui Jiang,Sarina G. Kant,Amy Kao,Mary D. King,Helen Kingston,Joerg Klepper,Marjo S. van der Knaap,Andrew J. Kornberg,Dieter Kotzot,Wilfried Kratzer,Didier Lacombe,Lieven Lagae,Pierre Landrieu,Giovanni Lanzi,Andrea Leitch,Ming K. Lim,John H. Livingston,Charles Marques Lourenço,E G Hermione Lyall,Sally Ann Lynch,Michael J. Lyons,Daphna Marom,John P McClure,Robert McWilliam,Serge B. Melançon,Leena D Mewasingh,Marie-Laure Moutard,Ken K. Nischal,John R. Østergaard,Julie S. Prendiville,Magnhild Rasmussen,R. Curtis Rogers,Dominique Roland,Elisabeth Rosser,Kevin Rostasy,Agathe Roubertie,Amparo Sanchis,Raphael Schiffmann,Sabine Scholl-Bürgi,Sunita Seal,Stavit A. Shalev,C Sierra Corcoles,Gyan P Sinha,Doriette Soler,Ronen Spiegel,John B.P. Stephenson,Uta Tacke,Tiong Yang Tan,Marianne Till,John Tolmie,Pam Tomlin,Federica Vagnarelli,Enza Maria Valente,Rudy Van Coster,Nathalie Van der Aa,Adeline Vanderver,Johannes S H Vles,Thomas Voit,Evangeline Wassmer,Bernhard Weschke,Margo L. Whiteford,Michèl A.A.P. Willemsen,Andreas Zankl,Sameer M. Zuberi,Simona Orcesi,Elisa Fazzi,Pierre Lebon,Yanick J. Crow +117 more
TL;DR: The analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder, and indicates that at least one further AGS-causing gene remains to be identified.
Journal ArticleDOI
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C. Taylor,Jenny C. Taylor,Hilary C. Martin,Stefano Lise,John Broxholme,Jean-Baptiste Cazier,Andrew J. Rimmer,Alexander Kanapin,Gerton Lunter,Simon Fiddy,Chris Allan,A. Radu Aricescu,Moustafa Attar,Christian Babbs,Jennifer Becq,David Beeson,Celeste Bento,P Bignell,Edward Blair,Veronica J. Buckle,Katherine R. Bull,Katherine R. Bull,Ondrej Cais,Holger Cario,Helen Chapel,Richard R. Copley,Richard R. Copley,Richard J. Cornall,Jude Craft,Jude Craft,Karin Dahan,Emma E. Davenport,Calliope A. Dendrou,Olivier Devuyst,Aimee L. Fenwick,Jonathan Flint,Lars Fugger,Rodney D. Gilbert,Anne Goriely,Angie Green,Ingo H. Greger,Russell J. Grocock,Anja V. Gruszczyk,Robert W. Hastings,Edouard Hatton,Doug Higgs,Adrian V. S. Hill,Adrian V. S. Hill,Christopher Holmes,Christopher Holmes,Malcolm F. Howard,Malcolm F. Howard,Linda Hughes,Peter Humburg,David W. Johnson,Fredrik Karpe,Zoya Kingsbury,Usha Kini,Julian C. Knight,Jon P. Krohn,Sarah Lamble,Craig B. Langman,Lorne Lonie,Joshua Luck,Davis J. McCarthy,Simon J. McGowan,Mary Frances McMullin,Kerry A. Miller,Lisa Murray,Andrea H. Németh,M. Andrew Nesbit,David J. Nutt,Elizabeth Ormondroyd,Annette Bang Oturai,Alistair T. Pagnamenta,Alistair T. Pagnamenta,Smita Y. Patel,Melanie J. Percy,Nayia Petousi,Paolo Piazza,Sian E. Piret,Guadalupe Polanco-Echeverry,Niko Popitsch,Niko Popitsch,Fiona Powrie,Christopher W. Pugh,Lynn Quek,Peter A. Robbins,Kathryn J. H. Robson,Alexandra Russo,Natasha Sahgal,Pauline A. van Schouwenburg,Anna Schuh,Anna Schuh,Earl D. Silverman,Alison Simmons,Per Soelberg Sørensen,Elizabeth Sweeney,John Taylor,John Taylor,Rajesh V. Thakker,Ian Tomlinson,Ian Tomlinson,Amy Trebes,Stephen R.F. Twigg,Holm H. Uhlig,Paresh Vyas,Timothy J. Vyse,Steven A. Wall,Hugh Watkins,Michael P. Whyte,Lorna Witty,Ben Wright,Christopher Yau,David Buck,Sean Humphray,Peter J. Ratcliffe,John I. Bell,Andrew O.M. Wilkie,David Bentley,Peter Donnelly,Peter Donnelly,Gilean McVean +122 more
TL;DR: It is found that jointly calling variants across samples, filtering against both local and external databases, deploying multiple annotation tools and using familial transmission above biological plausibility contributed to accuracy.