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Author Details

Huw B Thomas
University of Manchester
2013
18
12
PMIDPaper TitleJournal TitlePublished Year
37558808Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.Eur J Hum Genet2023
34713892Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.Clin Genet2022
35584218A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.Sci Adv2022
35871492Bi-allelic FRA10AC1 variants in a multisystem human syndrome.Brain2022
33958779Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.Nat Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
32333448EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.Hum Mutat2020
33102976Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome.Kidney Int Rep2020
32735620Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.PLoS One2020
31304552Disease modeling of core pre-mRNA splicing factor haploinsufficiency.Hum Mol Genet2019
31441039A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.Clin Genet2019
31602609Advanced Methods for the Analysis of Altered Pre-mRNA Splicing in Yeast and Disease.Methods Mol Biol2019
25125592Interferon gene expression signature in rheumatoid arthritis neutrophils correlates with a good response to TNFi therapy.Rheumatology (Oxford)2015
26401909Whose Gene Is It Anyway? The Effect of Preparation Purity on Neutrophil Transcriptome Studies.PLoS One2015
27042300Differential changes in gene expression in human neutrophils following TNF-α stimulation: Up-regulation of anti-apoptotic proteins and down-regulation of proteins involved in death receptor signaling.Immun Inflamm Dis2015
25498652Heparin derivatives for the targeting of multiple activities in the inflammatory response.Carbohydr Polym2015
25445614A lack of confirmation with alternative assays questions the validity of IL-17A expression in human neutrophils using immunohistochemistry.Immunol Lett2014
23554905RNA-seq reveals activation of both common and cytokine-specific pathways following neutrophil priming.PLoS One2013
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Collaborators

Raymond T O'Keefe
University of Manchester
Co-authored papers 9
Siddharth Banka
University of Manchester
Co-authored papers 3
Jamie M Ellingford
University of Manchester
Co-authored papers 3
Adrian S Woolf
The University of Manchester
Co-authored papers 3
Sofia Douzgou
Haukeland University Hospital
Co-authored papers 3
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 2
John A Sayer
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 2
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 2
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Philip Twiss
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Eleanor Dewhurst
University of Cambridge
Co-authored papers 1
Philip L Beales
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 1
Rutendo Mapeta
Cambridge University Hospitals NHS Foundation
Co-authored papers 1
Matthew Welland
Co-authored papers 1
Maureen Cleary
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 1
Kyle Thompson
Translational and Clinical Research Institute, Newcastle University
Co-authored papers 1
Antonio Rueda Martin
Queen Mary University of London
Co-authored papers 1
Dragana Josifova
Guy's and St Thomas' Hospital
Co-authored papers 1
Douglass M Turnbull
Newcastle University
Co-authored papers 1
Valentina Cipriani
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Christopher Boustred
Co-authored papers 1
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 1
Charu Deshpande
Guy's Hospital
Co-authored papers 1
Bishoy Habib
Co-authored papers 1
Gr??inne S Gorman
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 1
Dominic J McMullan
Birmingham Women's and Children's NHS Foundation Trust
Co-authored papers 1
No??mi B A Roy
MRC Weatherall Institute of Molecular Medicine, University of Oxford
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