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Author Details

Marta Bleda
University of Cambridge School of Clinical Medicine
2012
24
16
PMIDPaper TitleJournal TitlePublished Year
37115922The genomic landscape of familial glioma.Sci Adv2023
34493544Biallelic variants of <i>ATP13A3</i> cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.J Med Genet2022
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
31661308Characterization of <i>GDF2</i> Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.Am J Respir Crit Care Med2020
30527956Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.Lancet Respir Med2019
30655285The ADAMTS13-VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension.Eur Respir J2019
29650961Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.Nat Commun2018
30354297Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.Circ Genom Precis Med2018
27881557Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension.Circulation2017
28274275Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.Genome Biol2017
28972005Phenotypic Characterization of <i>EIF2AK4</i> Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.Circulation2017
28535294HGVA: the Human Genome Variation Archive.Nucleic Acids Res2017
26764160267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation.Mol Biol Evol2016
28000771The pan-cancer pathological regulatory landscape.Sci Rep2016
27296979Web-based network analysis and visualization using CellMaps.Bioinformatics2016
25897133Babelomics 5.0: functional interpretation for new generations of genomic data.Nucleic Acids Res2015
26559152Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease.Sci Rep2015
26690675Identification of epistatic interactions through genome-wide association studies in sporadic medullary and juvenile papillary thyroid carcinomas.BMC Med Genomics2015
23748955Genome Maps, a new generation genome browser.Nucleic Acids Res2013
24289864Pathways systematically associated to Hirschsprung's disease.Orphanet J Rare Dis2013
22693210Inferring the regulatory network behind a gene expression experiment.Nucleic Acids Res2012
22693211VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing.Nucleic Acids Res2012
22693220CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources.Nucleic Acids Res2012
23270508Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.Orphanet J Rare Dis2012
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Collaborators

Joaqu??n Dopazo
Andalusian Public Foundation Progress and Health-FPS
Co-authored papers 14
Stefan Gr??f
Heart and Lung Research Institute, University of Cambridge
Co-authored papers 10
Ignacio Medina
Co-authored papers 9
Matthias Haimel
University of Cambridge
Co-authored papers 8
Richard C Trembath
Co-authored papers 6
Florent Soubrier
Co-authored papers 5
Willem H Ouwehand
University of Cambridge
Co-authored papers 4
Augusto Rendon
Genomics England Ltd
Co-authored papers 3
Inga Prokopenko
Co-authored papers 3
Emilia M Swietlik
University of Cambridge, Heart and Lung Research Institute
Co-authored papers 3
Louise C Daugherty
Queen Mary University of London, United Kingdom Healx Ltd
Co-authored papers 3
Pak C Sham
the University of Hong Kong
Co-authored papers 2
Aravinda Chakravarti
New York University Grossman School of Medicine
Co-authored papers 2
Hongsheng Gui
Behavioral Health Services
Co-authored papers 2
José Carbonell-Caballero
Co-authored papers 2
David Montaner
Co-authored papers 2
Dalia Kasperaviciute
Genomics England Ltd.
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Paul K H Tam
Queen Mary Hospital, The University of Hong Kong
Co-authored papers 2
Alicia Amadoz
Co-authored papers 2
Anna C Need
Imperial College London
Co-authored papers 2
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Keith Marsolo
Duke Clinical Research Institute, Duke University School of Medicine
Co-authored papers 1
Antonio Rueda Martin
Queen Mary University of London
Co-authored papers 1
Matias M Falco
University of Helsinki
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
Aris Baras
Co-authored papers 1
Release 1.2