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Author Details

Rutendo Mapeta
Cambridge University Hospitals NHS Foundation
2016
12
10
PMIDPaper TitleJournal TitlePublished Year
36895957Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.Brain Commun2023
35211795Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.Pediatr Nephrol2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
31562665Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.Hum Mutat2020
32693407Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.Blood2020
31064749Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood2019
31719132How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.Neurology2019
31179617Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.J Thromb Haemost2019
30171045<i>GNE</i> variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.Blood2018
29909963Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.Am J Hum Genet2018
27084890A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders.Blood2016
26912466A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.Blood2016
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Collaborators

Willem H Ouwehand
University of Cambridge
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Christopher J Penkett
National Health Service Blood and Transplant, University of Cambridge
Co-authored papers 7
Karyn Megy
University of Cambridge
Co-authored papers 6
Kate Downes
Co-authored papers 6
Kathleen Freson
Center for Molecular and Vascular Biology, University of Leuven
Co-authored papers 6
Ernest Turro
Icahn School of Medicine at Mount Sinai
Co-authored papers 6
Jonathan Stephens
Co-authored papers 6
Daniel Greene
University of Cambridge
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Keith Gomez
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Kathleen Stirrups
University of Cambridge
Co-authored papers 5
Tadbir K Bariana
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Andrew D Mumford
University of Bristol
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Suthesh Sivapalaratnam
Co-authored papers 3
Mike Laffan
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Rémi Favier
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Anne M Kelly
Addenbrooke's Hospital
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Sarah K Westbury
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Louise C Daugherty
Queen Mary University of London, United Kingdom Healx Ltd
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Sofie Ashford
University of Cambridge
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Augusto Rendon
Genomics England Ltd
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Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
John R Bradley
Cambridge University Hospitals NHS Foundation
Co-authored papers 2
William J Astle
Co-authored papers 2
Chris Van Geet
Co-authored papers 2
Stefan Gr??f
Heart and Lung Research Institute, University of Cambridge
Co-authored papers 2
Wendy N Erber
Co-authored papers 2
Louise Izatt
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 2
Myrto Kostadima
Co-authored papers 2
Claire Lentaigne
Co-authored papers 2
Rita Horvath
School of Clinical Medicine, University of Cambridge
Co-authored papers 2
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