R
Ruth Newbury-Ecob
Researcher at University Hospitals Bristol NHS Foundation Trust
Publications - 58
Citations - 5335
Ruth Newbury-Ecob is an academic researcher from University Hospitals Bristol NHS Foundation Trust. The author has contributed to research in topics: Exome sequencing & Exome. The author has an hindex of 27, co-authored 56 publications receiving 4193 citations. Previous affiliations of Ruth Newbury-Ecob include St. Michael's GAA, Sligo & St. Michael's Hospital.
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Journal ArticleDOI
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Tarjinder Singh,Mitja I. Kurki,David Curtis,Shaun M. Purcell,Lucy Crooks,Jeremy F. McRae,Jaana Suvisaari,Himanshu Chheda,Douglas Blackwood,Gerome Breen,Olli Pietilainen,Sebastian S. Gerety,Muhammad Ayub,Moira Blyth,Trevor Cole,David Collier,Eve L. Coomber,Nicholas John Craddock,Mark J. Daly,John Danesh,Marta DiForti,Alison Foster,Nelson B. Freimer,Daniel H. Geschwind,Mandy Johnstone,Shelagh Joss,G. Kirov,Jarmo Körkkö,Outi Kuismin,Peter Holmans,Christina M. Hultman,Conrad Iyegbe,Jouko Lönnqvist,Minna Männikkö,Steve McCarroll,Peter McGuffin,Andrew M. McIntosh,Andrew McQuillin,Jukka S. Moilanen,Carmel Moore,Robin M. Murray,Ruth Newbury-Ecob,Willem H. Ouwehand,Tiina Paunio,Elena Prigmore,Elliott Rees,David J. Roberts,Jennifer G. Sambrook,Pamela Sklar,David St Clair,Juha Veijola,James T.R. Walters,Hywel Williams,Swedish Schizophrenia Study,Interval Study,Ddd Study,Patrick Sullivan,Matthew E. Hurles,Michael Conlon O'Donovan,Aarno Palotie,Michael J. Owen,Jeffrey C. Barrett +61 more
TL;DR: In this article, the authors found a genome-wide significant association between rare loss-of-function (LoF) variants in SETD1A and risk for schizophrenia (P = 3.3 × 10−9).
Journal ArticleDOI
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Jenny Lord,Dominic J. McMullan,Ruth Y. Eberhardt,Gabriele Rinck,Susan Hamilton,E Quinlan-Jones,Elena Prigmore,Rebecca Keelagher,Sunayna Best,Georgina K. Carey,Rhiannon Mellis,Sarah Robart,Ian R. Berry,Kate Chandler,Deirdre Cilliers,Lara Cresswell,Sandra L. Edwards,Carol Gardiner,Alex Henderson,Simon Holden,Tessa Homfray,Tracy Lester,Rebecca A. Lewis,Ruth Newbury-Ecob,Katrina Prescott,Oliver Quarrell,Simon C Ramsden,E. Roberts,Dagmar Tapon,Madeleine J. Tooley,Pradeep C. Vasudevan,Astrid Weber,Diana Wellesley,Paul Westwood,Helen E. White,Michael Parker,Denise Williams,Lucy Jenkins,Richard H Scott,Mark D. Kilby,Lyn S. Chitty,Matthew E. Hurles,Eamonn R. Maher +42 more
TL;DR: WES improved the identification of genetic disorders in fetuses with structural abnormalities; however, before clinical implementation, careful consideration should be given to case selection to maximise clinical usefulness.
Journal Article
OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
Stephen P. Robertson,Twigg,Andrew J. Sutherland-Smith,Biancalana,Robert J. Gorlin,Denise Horn,Susan Kenwrick,Ca Kim,Eva Morava,Ruth Newbury-Ecob,Karen Helene Ørstavik,Oliver Quarrell,Charles E. Schwartz,Deborah J. Shears,Mohnish Suri,John Kendrick-Jones,Andrew O.M. Wilkie +16 more
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
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Eva Klopocki,Harald Schulze,Gabriele Strauß,Claus-Eric Ott,Judith G. Hall,Fabienne Trotier,Silke Fleischhauer,Lynn Greenhalgh,Ruth Newbury-Ecob,Luitgard M. Neumann,Rolf Habenicht,Rainer König,Eva Seemanova,André Mégarbané,Hans-Hilger Ropers,Reinhard Ullmann,Denise Horn,Stefan Mundlos +17 more
TL;DR: It is hypothesized that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR), and the absence of this deletion in a cohort of control individuals argues for a specific role played by the microdeletion in the pathogenesis of TAR Syndrome.