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Author Details

Angela Matchan
Wellcome Sanger Institute
2013
17
14
PMIDPaper TitleJournal TitlePublished Year
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
31097696Functional linkage of gene fusions to cancer cell fitness assessed by pharmacological and CRISPR-Cas9 screening.Nat Commun2019
31847144A Dietary Pattern with High Sugar Content Is Associated with Cardiometabolic Risk Factors in the Pomak Population.Nutrients2019
29229604Transcription Factor Activities Enhance Markers of Drug Sensitivity in Cancer.Cancer Res2018
30390057Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.Nat Genet2018
27989266The mountainous Cretan dietary patterns and their relationship with cardiovascular risk factors: the Hellenic Isolated Cohorts MANOLIS study.Public Health Nutr2017
28552196Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.Am J Hum Genet2017
28548082Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.Nat Commun2017
27049301Whole-exome sequencing in an isolated population from the Dalmatian island of Vis.Eur J Hum Genet2016
27618447Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.Nat Genet2016
27668658Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.Nat Genet2016
27466198Analysis with the exome array identifies multiple new independent variants in lipid loci.Hum Mol Genet2016
25631608Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.Nat Commun2015
26280580RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.J Clin Invest2015
26131930Directional dominance on stature and cognition in diverse human populations.Nature2015
25373335Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.Nat Commun2014
24343240A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.Nat Commun2013
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Collaborators

Eleftheria Zeggini
Co-authored papers 13
George Dedoussis
Co-authored papers 12
Lorraine Southam
Co-authored papers 10
Nigel W Rayner
Co-authored papers 9
Robert A Scott
Co-authored papers 7
Weihua Zhang
Imperial College London
Co-authored papers 6
Giovanni Gambaro
Co-authored papers 6
John C Chambers
Lee Kong Chian School of Medicine, Nanyang Technological University
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Giovanni Malerba
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London NorthWest Healthcare NHS Trust
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Nicole Soranzo
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Erasmus University Medical Center
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Cornelia M van Duijn
University of Oxford
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Igor Rudan
Co-authored papers 4
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
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Adam S Butterworth
British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge
Co-authored papers 4
Nicholas J Timpson
Co-authored papers 4
Ozren Polasek
Co-authored papers 4
Jian'an Luan
Co-authored papers 4
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