Marta Bleda
Marta Bleda
Computational Biologyst, Genomics England, UK
Verified email at cam.ac.uk
TitleCited byYear
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ...
The American Journal of Human Genetics 100 (1), 75-90, 2017
1422017
Babelomics 5.0: functional interpretation for new generations of genomic data
R Alonso, F Salavert, F Garcia-Garcia, J Carbonell-Caballero, M Bleda, ...
Nucleic acids research 43 (W1), W117-W121, 2015
902015
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ...
Circulation 136 (21), 2022-2033, 2017
79*2017
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension
S Gräf, M Haimel, M Bleda, C Hadinnapola, L Southgate, W Li, J Hodgson, ...
Nature communications 9 (1), 1-16, 2018
782018
Chronic thromboembolic pulmonary hypertension
NH Kim, M Delcroix, X Jais, MM Madani, H Matsubara, E Mayer, T Ogo, ...
European Respiratory Journal 53 (1), 1801915, 2019
622019
Plasma metabolomics implicates modified transfer RNAs and altered bioenergetics in the outcomes of pulmonary arterial hypertension
CJ Rhodes, P Ghataorhe, J Wharton, KC Rue-Albrecht, C Hadinnapola, ...
Circulation 135 (5), 460-475, 2017
532017
VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing
I Medina, A De Maria, M Bleda, F Salavert, R Alonso, CY Gonzalez, ...
Nucleic Acids Research, 2012
512012
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
P Tuijnenburg, HL Allen, SO Burns, D Greene, MH Jansen, E Staples, ...
Journal of Allergy and Clinical Immunology 142 (4), 1285-1296, 2018
412018
267 Spanish exomes reveal population-specific differences in disease-related genetic variation
J Dopazo, A Amadoz, M Bleda, L Garcia-Alonso, A Alemán, ...
Molecular biology and evolution 33 (5), 1205-1218, 2016
412016
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
H Gui, D Schriemer, WW Cheng, RK Chauhan, G Antiňolo, C Berrios, ...
Genome biology 18 (1), 48, 2017
382017
CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources
M Bleda, J Tarraga, A de Maria, F Salavert, L Garcia-Alonso, M Celma, ...
Nucleic Acids Research, 2012
342012
Genome Maps, a new generation genome browser
I Medina, F Salavert, R Sanchez, A de Maria, R Alonso, P Escobar, ...
Nucleic acids research 41 (W1), W41-W46, 2013
332013
The pan-cancer pathological regulatory landscape
MM Falco, M Bleda, J Carbonell-Caballero, J Dopazo
Scientific reports 6, 39709, 2016
162016
Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis
CJ Rhodes, K Batai, M Bleda, M Haimel, L Southgate, M Germain, ...
The Lancet Respiratory Medicine 7 (3), 227-238, 2019
152019
Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration
G Arno, KJ Carss, S Hull, C Zihni, AG Robson, A Fiorentino, G Black, ...
The American Journal of Human Genetics 100 (2), 334-342, 2017
142017
UK National Cohort Study of Idiopathic and Heritable PAH. Phenotypic characterization of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with …
C Hadinnapola, M Bleda, M Haimel, N Screaton, A Swift, P Dorfmüller, ...
Circulation 136, 2022-2033, 2017
142017
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease
B Luzón-Toro, H Gui, M Ruiz-Ferrer, CSM Tang, RM Fernández, ...
Scientific reports 5, 16473, 2015
142015
Pathways systematically associated to Hirschsprung’s disease
RM Fernández, M Bleda, B Luzón-Toro, L García-Alonso, S Arnold, ...
Orphanet journal of rare diseases 8 (1), 187, 2013
142013
Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes
J Whitworth, PS Smith, JE Martin, H West, A Luchetti, F Rodger, G Clark, ...
The American Journal of Human Genetics 103 (1), 3-18, 2018
132018
Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease
RM Fernández, M Bleda, R Núñez-Torres, I Medina, B Luzón-Toro, ...
Orphanet journal of rare diseases 7 (1), 103, 2012
132012
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