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Emma Wakeling
Researcher at Great Ormond Street Hospital for Children NHS Foundation Trust
Publications - 97
Citations - 4915
Emma Wakeling is an academic researcher from Great Ormond Street Hospital for Children NHS Foundation Trust. The author has contributed to research in topics: Medicine & Chromosome 7 (human). The author has an hindex of 33, co-authored 80 publications receiving 4141 citations. Previous affiliations of Emma Wakeling include Ealing Hospital & University College London.
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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
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
Emma Wakeling,Frédéric Brioude,Frédéric Brioude,Oluwakemi Lokulo-Sodipe,Oluwakemi Lokulo-Sodipe,Susan M. O’Connell,Jennifer Salem,Jet Bliek,Ana Pinheiro Machado Canton,Krystyna H. Chrzanowska,Justin H Davies,Renuka P Dias,Renuka P Dias,Renuka P Dias,Béatrice Dubern,Miriam Elbracht,Eloise Giabicani,Eloise Giabicani,Adda Grimberg,Karen Grønskov,Anita C. S. Hokken-Koelega,Alexander A. L. Jorge,Masayo Kagami,Agnès Linglart,Mohamad Maghnie,Klaus Mohnike,David Monk,Gudrun E. Moore,Philip Murray,Tsutomu Ogata,Isabelle Oliver Petit,Silvia Russo,Edith Said,Edith Said,Meropi Toumba,Zeynep Tümer,Gerhard Binder,Thomas Eggermann,Madeleine D. Harbison,I. Karen Temple,I. Karen Temple,Deborah J G Mackay,Irène Netchine,Irène Netchine +43 more
TL;DR: The consensus statement as discussed by the authors summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation.
Journal ArticleDOI
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
Beverley Anderson,Paul R. Kasher,Josephine Mayer,Marcin Szynkiewicz,Emma M. Jenkinson,Sanjeev S. Bhaskar,Jill E. Urquhart,Sarah B. Daly,Jonathan E. Dickerson,James O'Sullivan,Elisabeth Oppliger Leibundgut,Joanne Muter,Ghada M H Abdel-Salem,Riyana Babul-Hirji,Peter Baxter,Andrea Berger,Andrea Berger,Luisa Bonafé,Janice E Brunstom-Hernandez,Johannes A. Buckard,David Chitayat,Wui K. Chong,Duccio Maria Cordelli,Patrick Ferreira,Joel Victor Fluss,Ewan Forrest,Emilio Franzoni,Caterina Garone,Caterina Garone,Simon Hammans,Gunnar Houge,Imelda Hughes,Sébastien Jacquemont,Pierre-Yves Jeannet,Rosalind J. Jefferson,Ram L. Kumar,Georg Kutschke,Staffan Lundberg,Charles Marques Lourenço,Ramesh Mehta,Sakkubai Naidu,Ken K. Nischal,Luís Catela Nunes,Katrin Õunap,Michel Philippart,Prab Prabhakar,Sarah Risen,Raphael Schiffmann,Calvin Soh,John B.P. Stephenson,Helen Stewart,Jon Stone,John Tolmie,Marjo S. van der Knaap,José Pedro Vieira,Catheline Vilain,Emma Wakeling,Vanessa Wermenbol,Andrea Whitney,Simon C. Lovell,Stefan Meyer,Stefan Meyer,John H. Livingston,Gabriela M. Baerlocher,Graeme C.M. Black,Gillian I. Rice,Yanick J. Crow +66 more
TL;DR: Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells.
Journal ArticleDOI
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
Jeroen Van Houdt,Beata Nowakowska,Sérgio B. Sousa,Sérgio B. Sousa,Barbera D. C. van Schaik,Eve Seuntjens,Nelson Avonce,Alejandro Sifrim,Omar A. Abdul-Rahman,Marie José H. Van Den Boogaard,Armand Bottani,Marco Castori,Valérie Cormier-Daire,Matthew A. Deardorff,Isabel Filges,Alan Fryer,Jean Pierre Fryns,Simone Gana,Livia Garavelli,Gabriele Gillessen-Kaesbach,Bryan D. Hall,Denise Horn,Danny Huylebroeck,Jakub Klapecki,Małgorzata Krajewska-Walasek,Alma Kuechler,Matthew A. Lines,Saskia M. Maas,Kay D. MacDermot,Shane McKee,Alex Magee,Stella A. de Man,Yves Moreau,Fanny Morice-Picard,Ewa Obersztyn,Jacek Pilch,Elizabeth C. Rosser,Nora Shannon,Irene Stolte-Dijkstra,Patrick Van Dijck,Catheline Vilain,Annick Vogels,Emma Wakeling,Dagmar Wieczorek,Louise C. Wilson,Orsetta Zuffardi,Antoine H. C. van Kampen,Koenraad Devriendt,Raoul C.M. Hennekam,Joris Vermeesch +49 more
TL;DR: The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family and alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity.