Marta Bleda
Marta Bleda
Computational Biologyst, Genomics England, UK
Verified email at
Cited by
Cited by
Chronic thromboembolic pulmonary hypertension
NH Kim, M Delcroix, DP Jenkins, R Channick, P Dartevelle, P Jansa, ...
Journal of the American College of Cardiology 62 (25 Supplement), D92-D99, 2013
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
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
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
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
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
Germline selection shapes human mitochondrial DNA diversity
W Wei, S Tuna, MJ Keogh, KR Smith, TJ Aitman, PL Beales, DL Bennett, ...
Science 364 (6442), 2019
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
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
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
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), 1-13, 2017
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
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
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
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
The impact of patient choice on survival in chronic thromboembolic pulmonary hypertension
SR Quadery, AJ Swift, CG Billings, AAR Thompson, CA Elliot, J Hurdman, ...
European Respiratory Journal 52 (3), 2018
The pan-cancer pathological regulatory landscape
MM Falco, M Bleda, J Carbonell-Caballero, J Dopazo
Scientific reports 6, 39709, 2016
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
Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension
MS Bohnen, L Ma, N Zhu, H Qi, C McClenaghan, C Gonzaga-Jauregui, ...
Circulation: Genomic and Precision Medicine 11 (10), e002087, 2018
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
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