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Marta Bleda
Marta Bleda
Genomics England, UK
Verified email at genomicsengland.co.uk
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Cited by
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Year
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
4052017
100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report
100,000 Genomes Project Pilot Investigators
New England Journal of Medicine 385 (20), 1868-1880, 2021
3592021
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), 1416, 2018
3382018
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
2072018
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
1702017
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
1422019
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
1362015
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
1232017
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
T Lorenzini, M Fliegauf, N Klammer, N Frede, M Proietti, A Bulashevska, ...
Journal of Allergy and Clinical Immunology 146 (4), 901-911, 2020
962020
Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension
J Hodgson, EM Swietlik, RM Salmon, C Hadinnapola, I Nikolic, J Wharton, ...
American journal of respiratory and critical care medicine 201 (5), 575-585, 2020
932020
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project
G Wheway, HM Mitchison, Genomics England Research Consortium
Frontiers in genetics 10, 438269, 2019
892019
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ...
The Lancet Neurology 21 (3), 234-245, 2022
842022
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
822016
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, 1-13, 2017
802017
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
722018
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis
R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ...
Neuron 109 (3), 448-460. e4, 2021
652021
Glycoproteomics reveals decorin peptides with anti-myostatin activity in human atrial fibrillation
J Barallobre-Barreiro, SK Gupta, A Zoccarato, R Kitazume-Taneike, ...
Circulation 134 (11), 817-832, 2016
622016
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
602018
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
JHR Farmery, ML Smith, AG Lynch
Scientific reports 8 (1), 1300, 2018
602018
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ...
The American Journal of Human Genetics 104 (5), 948-956, 2019
582019
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