Publications by authors named "Paula Rayner-Matthews"

5Publications

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Authors:
James E D Thaventhiran Hana Lango Allen Oliver S Burren William Rae Daniel Greene Emily Staples Zinan Zhang James H R Farmery Ilenia Simeoni Elizabeth Rivers Jesmeen Maimaris Christopher J Penkett Jonathan Stephens Sri V V Deevi Alba Sanchis-Juan Nicholas S Gleadall Moira J Thomas Ravishankar B Sargur Pavels Gordins Helen E Baxendale Matthew Brown Paul Tuijnenburg Austen Worth Steven Hanson Rachel J Linger Matthew S Buckland Paula J Rayner-Matthews Kimberly C Gilmour Crina Samarghitean Suranjith L Seneviratne David M Sansom Andy G Lynch Karyn Megy Eva Ellinghaus David Ellinghaus Silje F Jorgensen Tom H Karlsen Kathleen E Stirrups Antony J Cutler Dinakantha S Kumararatne Anita Chandra J David M Edgar Archana Herwadkar Nichola Cooper Sofia Grigoriadou Aarnoud P Huissoon Sarah Goddard Stephen Jolles Catharina Schuetz Felix Boschann Paul A Lyons Matthew E Hurles Sinisa Savic Siobhan O Burns Taco W Kuijpers Ernest Turro Willem H Ouwehand Adrian J Thrasher Kenneth G C Smith

Nature 2020 Aug;584(7819):E2

Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.

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August 2020

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Authors:
James E D Thaventhiran Hana Lango Allen Oliver S Burren William Rae Daniel Greene Emily Staples Zinan Zhang James H R Farmery Ilenia Simeoni Elizabeth Rivers Jesmeen Maimaris Christopher J Penkett Jonathan Stephens Sri V V Deevi Alba Sanchis-Juan Nicholas S Gleadall Moira J Thomas Ravishankar B Sargur Pavels Gordins Helen E Baxendale Matthew Brown Paul Tuijnenburg Austen Worth Steven Hanson Rachel J Linger Matthew S Buckland Paula J Rayner-Matthews Kimberly C Gilmour Crina Samarghitean Suranjith L Seneviratne David M Sansom Andy G Lynch Karyn Megy Eva Ellinghaus David Ellinghaus Silje F Jorgensen Tom H Karlsen Kathleen E Stirrups Antony J Cutler Dinakantha S Kumararatne Anita Chandra J David M Edgar Archana Herwadkar Nichola Cooper Sofia Grigoriadou Aarnoud P Huissoon Sarah Goddard Stephen Jolles Catharina Schuetz Felix Boschann Paul A Lyons Matthew E Hurles Sinisa Savic Siobhan O Burns Taco W Kuijpers Ernest Turro Willem H Ouwehand Adrian J Thrasher Kenneth G C Smith

Nature 2020 07 6;583(7814):90-95. Epub 2020 May 6.

Cambridge Institute of Therapeutic Immunology and Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, Cambridge, UK.

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July 2020

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Authors:
Kate L Thomson Elizabeth Ormondroyd Andrew R Harper Tim Dent Karen McGuire John Baksi Edward Blair Paul Brennan Rachel Buchan Teofila Bueser Carolyn Campbell Gerald Carr-White Stuart Cook Matthew Daniels Sri V V Deevi Judith Goodship Jesse B G Hayesmoore Alex Henderson Teresa Lamb Sanjay Prasad Paula Rayner-Matthews Leema Robert Linda Sneddon Hannah Stark Roddy Walsh James S Ware Martin Farrall Hugh C Watkins

Genet Med 2019 07 11;21(7):1576-1584. Epub 2018 Dec 11.

Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.

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July 2019

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency.

Authors:
Dylan Lawless Christoph B Geier Jocelyn R Farmer Hana Lango Allen Daniel Thwaites Faranaz Atschekzei Matthew Brown David Buchbinder Siobhan O Burns Manish J Butte Krisztian Csomos Sri V V Deevi William Egner Stephan Ehl Martha M Eibl Olajumoke Fadugba Zsofia Foldvari Deanna M Green Sarah E Henrickson Steven M Holland Tami John Christian Klemann Taco W Kuijpers Fernando Moreira Alexander Piller Paula Rayner-Matthews Neil D Romberg Ravishankar Sargur Reinhold E Schmidt Claudia Schröder Catharina Schuetz Svetlana O Sharapova Ken G C Smith Georgios Sogkas Carsten Speckmann Kathleen Stirrups Adrian J Thrasher Hermann M Wolf Luigi D Notarangelo Rashida Anwar Joan Boyes Boglarka Ujhazi James Thaventhiran Jolan E Walter Sinisa Savic

J Allergy Clin Immunol 2018 06 2;141(6):2303-2306. Epub 2018 Mar 2.

Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom; National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine, St James's University Hospital, Leeds, United Kingdom. Electronic address:

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June 2018

Phenotypic Characterization of Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

Authors:
Charaka Hadinnapola Marta Bleda Matthias Haimel Nicholas Screaton Andrew Swift Peter Dorfmüller Stephen D Preston Mark Southwood Jules Hernandez-Sanchez Jennifer Martin Carmen Treacy Katherine Yates Harm Bogaard Colin Church Gerry Coghlan Robin Condliffe Paul A Corris Simon Gibbs Barbara Girerd Simon Holden Marc Humbert David G Kiely Allan Lawrie Rajiv Machado Robert MacKenzie Ross Shahin Moledina David Montani Michael Newnham Andrew Peacock Joanna Pepke-Zaba Paula Rayner-Matthews Olga Shamardina Florent Soubrier Laura Southgate Jay Suntharalingam Mark Toshner Richard Trembath Anton Vonk Noordegraaf Martin R Wilkins Stephen J Wort John Wharton Stefan Gräf Nicholas W Morrell

Circulation 2017 11 28;136(21):2022-2033. Epub 2017 Sep 28.

Department of Medicine, University of Cambridge, UK (C.H., M.B., M.H., J.M., C.T., K.Y., M.N., M.T., S. Gräf, N.W.M.)

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November 2017