L
Louise Brueton
Researcher at Northwick Park Hospital
Publications - 70
Citations - 8430
Louise Brueton is an academic researcher from Northwick Park Hospital. The author has contributed to research in topics: Mutation & Missense mutation. The author has an hindex of 44, co-authored 70 publications receiving 7801 citations. Previous affiliations of Louise Brueton include National Health Service & University of Birmingham.
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Journal ArticleDOI
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
A K Ryan,Judith A. Goodship,D I Wilson,Nicole Philip,A. Levy,H Seidel,S Schuffenhauer,H Oechsler,B Belohradsky,M Prieur,Alain Aurias,F L Raymond,Jill Clayton-Smith,E Hatchwell,C McKeown,Frits A. Beemer,Bruno Dallapiccola,Giuseppe Novelli,Jane A. Hurst,J Ignatius,A J Green,Robin M. Winter,Louise Brueton,Karen Brøndum-Nielsen,Peter J. Scambler +24 more
TL;DR: The majority of patients were constitutionally small, with 36% of patients below the 3rd centile for either height or weight parameters, and the majority of surviving patients were developmentally normal or had only mild learning problems.
Journal ArticleDOI
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
Gillian I. Rice,Paul R. Kasher,Gabriella Forte,Niamh M. Mannion,Sam M. Greenwood,Marcin Szynkiewicz,Jonathan E. Dickerson,Sanjeev S. Bhaskar,Massimiliano Zampini,Tracy A Briggs,Emma M. Jenkinson,Carlos A. Bacino,Roberta Battini,Enrico Bertini,Paul A. Brogan,Louise Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia Del Toro,Isabelle Desguerre,Elisa Fazzi,Angels García-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram L. Kumar,Jean-Pierre Lin,Charles Marques Lourenço,Alison Male,Wilson Marques,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert Robinson,Flore Rozenberg,Johanna L. Schmidt,Katharina Steindl,Tiong Yang Tan,William G. Van Der Merwe,Adeline Vanderver,Grace Vassallo,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,John H. Livingston,Pierre Lebon,Tamio Suzuki,Paul J. McLaughlin,Liam Keegan,Mary A O'Connell,Simon C. Lovell,Yanick J. Crow +53 more
TL;DR: It is shown that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome (AGS), and it is speculated that ADar1 may limit the cytoplasmic accumulation of the dsRNA generated from genomic repetitive elements.
Journal ArticleDOI
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Gillian I. Rice,Jacquelyn Bond,Aruna Asipu,Rebecca L. Brunette,Iain W. Manfield,Ian M. Carr,Jonathan C. Fuller,Richard M. Jackson,Teresa Lamb,Tracy A Briggs,Manir Ali,Hannah Gornall,Lydia R Couthard,Alec Aeby,Simon Attard-Montalto,Enrico Bertini,Christine Bodemer,Knut Brockmann,Louise Brueton,Peter Corry,Isabelle Desguerre,Elisa Fazzi,Angels Garcia Cazorla,Blanca Gener,Ben C.J. Hamel,Arvid Heiberg,Matthew F. Hunter,Marjo S. van der Knaap,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Charles Marques Lourenço,Daphna Marom,Michael F. McDermott,William G. Van Der Merwe,Simona Orcesi,Julie S. Prendiville,Magnhild Rasmussen,Stavit A. Shalev,Doriette Soler,Marwan Shinawi,Ronen Spiegel,Tiong Yang Tan,Adeline Vanderver,Emma Wakeling,Evangeline Wassmer,Elizabeth Whittaker,Pierre Lebon,Daniel B. Stetson,David T. Bonthron,Yanick J. Crow +50 more
TL;DR: Mutations in SAMHD1 are described as the cause of Aicardi-Goutières syndrome at the AGS5 locus and data is presented to show that SAM HD1 may act as a negative regulator of the cell-intrinsic antiviral response.
Journal ArticleDOI
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
Eamonn R. Maher,Louise Brueton,Sarah Bowdin,A Luharia,Wendy N. Cooper,Trevor Cole,Fiona Macdonald,Julian R. Sampson,Christopher L.R. Barratt,Wolf Reik,Michael M. Hawkins +10 more
TL;DR: Beckwith-Wiedemann syndrome is a model imprinting disorder resulting from mutations or epimutations affecting imprinted genes on chromosome 11p15.5 and a clear association between monozygotic twinning and BWS with KvDMR1 loss of methylation was shown.
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.