Marta Bleda
Publications by Year
Research Areas
Pulmonary Hypertension Research and Treatments, Genomics and Rare Diseases, Congenital gastrointestinal and neural anomalies, Cancer Genomics and Diagnostics, Intestinal Malrotation and Obstruction Disorders
Most-Cited Works
- → Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli(2020)1,086 cited
- → Whole-genome sequencing of patients with rare diseases in a national health system(2020)568 cited
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited
- → Identification of rare sequence variation underlying heritable pulmonary arterial hypertension(2018)369 cited
- → Substitution mutational signatures in whole-genome–sequenced cancers in the UK population(2022)273 cited
- → Whole-genome sequencing of a sporadic primary immunodeficiency cohort(2020)234 cited
- → Plasma Metabolomics Implicates Modified Transfer RNAs and Altered Bioenergetics in the Outcomes of Pulmonary Arterial Hypertension(2016)209 cited
- → Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis(2018)203 cited
- → A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage(2021)165 cited
- → Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension(2017)144 cited