S
Simon G. Williams
Researcher at University of Manchester
Publications - 124
Citations - 4996
Simon G. Williams is an academic researcher from University of Manchester. The author has contributed to research in topics: Heart failure & Exome sequencing. The author has an hindex of 35, co-authored 115 publications receiving 4013 citations. Previous affiliations of Simon G. Williams include Manchester Academic Health Science Centre & Central Manchester University Hospitals NHS Foundation Trust.
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Journal ArticleDOI
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
Gillian I. Rice,Yoandris del Toro Duany,Yoandris del Toro Duany,Emma M. Jenkinson,Gabriella M A Forte,Beverley Anderson,Giada Ariaudo,Brigitte Bader-Meunier,Eileen Baildam,Roberta Battini,Michael W. Beresford,Manuela Casarano,Mondher Chouchane,Rolando Cimaz,Abigail Collins,Nuno Cordeiro,Russell C. Dale,Joyce Davidson,Liesbeth De Waele,Isabelle Desguerre,Laurence Faivre,Elisa Fazzi,Bertrand Isidor,Lieven Lagae,Andrew Latchman,Pierre Lebon,Chumei Li,John H. Livingston,Charles Marques Lourenço,Maria Margherita Mancardi,Alice Masurel-Paulet,Iain B. McInnes,Manoj P. Menezes,Cyril Mignot,James O'Sullivan,Simona Orcesi,Paolo Picco,Enrica Riva,Robert Robinson,Diana Rodriguez,Diana Rodriguez,Elisabetta Salvatici,Christiaan Scott,Marta Szybowska,John Tolmie,Adeline Vanderver,Catherine Vanhulle,José Pedro Vieira,Kate Webb,Robyn Whitney,Simon G. Williams,Lynne A. Wolfe,Sameer M. Zuberi,Sameer M. Zuberi,Sun Hur,Sun Hur,Yanick J. Crow +56 more
TL;DR: It is demonstrated that aberrant sensing of nucleic acids can cause immune upregulation and heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.
Journal ArticleDOI
Comprehensive validation of cardiovascular magnetic resonance techniques for the assessment of myocardial extracellular volume.
Christopher A. Miller,Josephine H. Naish,Paul N. Bishop,Glyn Coutts,David Clark,Sha Zhao,Simon Ray,Nizar Yonan,Simon G. Williams,Andrew S. Flett,James C. Moon,Andreas Greiser,Geoffrey J. M. Parker,Matthias Schmitt +13 more
TL;DR: DynEq-CMR–derived ECV shows a good correlation with histological collagen volume fraction throughout the whole heart, and varied significantly according to contrast dose, myocardial region, and sex.
Journal ArticleDOI
Predicting death due to progressive heart failure in patients with mild-to-moderate chronic heart failure
Mark T. Kearney,Keith A.A. Fox,Amanda J Lee,Robin J Prescott,Ajay M. Shah,Philip D Batin,Wazir Baig,Stephen Lindsay,Timothy S. Callahan,William E. Shell,Dwain L. Eckberg,Azfar Zaman,Simon G. Williams,James M. M. Neilson,James Nolan +14 more
TL;DR: In ambulant outpatients with chronic HF, low serum sodium and SDNN and high serum creatinine identify patients at increased risk of death due to progressive HF.
Journal ArticleDOI
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
Stephanie Fehr,Meredith Wilson,Meredith Wilson,Jennepher Downs,Jennepher Downs,Simon G. Williams,Alessandra Murgia,Stefano Sartori,Marilena Vecchi,Gladys Ho,Gladys Ho,Roberta Polli,Stavroula Psoni,Xinhua Bao,Nicholas de Klerk,Helen Leonard,John Christodoulou,John Christodoulou +17 more
TL;DR: The CDKL5 disorder presents with a distinct clinical profile and a subtle facial, limb and hand phenotype that may assist in differentiation from other early-onset encephalopathies, and should be considered separate to RTT, rather than another variant.
Journal ArticleDOI
Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations
Miriam J. Smith,Christian Beetz,Simon G. Williams,Sanjeev S. Bhaskar,James O'Sullivan,Beverley Anderson,Sarah B. Daly,Jill E. Urquhart,Zaynab Bholah,Deemesh Oudit,Edmund Cheesman,Anna Kelsey,Martin G. McCabe,William G. Newman,D. Gareth Evans +14 more
TL;DR: It is demonstrated convincing evidence that SUFU mutations can cause classical Gorlin syndrome, and childhood brain magnetic resonance imaging surveillance is justified in SUFU-related, but not PTCH1- related, Gorlin Syndrome.