Items where authors include "Bleda, M."

Article

Bentham, R., Jones, T.P. orcid.org/0000-0003-2748-0780, Black, J.R.M. orcid.org/0000-0001-5598-7752 et al. (327 more authors) (2025) ImmuneLENS characterizes systemic immune dysregulation in aging and cancer. Nature Genetics, 57. pp. 694-705. ISSN 1061-4036

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

Robbe, P. orcid.org/0000-0002-0691-1126, Ridout, K.E., Vavoulis, D.V. orcid.org/0000-0002-3984-1507 et al. (142 more authors) (2022) Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features. Nature Genetics, 54. pp. 1675-1689. ISSN 1061-4036

Rhodes, C.J., Batai, K., Bleda, M. et al. (118 more authors) (2019) Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis. Lancet Respiratory Medicine, 7 (3). pp. 227-238. ISSN 2213-2600

Bohnen, M.S., Ma, L., Zhu, N. et al. (47 more authors) (2018) Loss-of-function ABCC8 mutations in pulmonary arterial hypertension. Circulation: Genomic and Precision Medicine, 11 (10). e002087. ISSN 2574-8300

Graf, S., Haimel, M., Bleda, M. et al. (62 more authors) (2018) Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nature Communications, 9. 1416. ISSN 2041-1723

Hadinnapola, C., Bleda, M., Haimel, M. et al. (41 more authors) (2017) Phenotypic characterisation of EIF2AK4 mutation carriers in a large cohort of patients diagnosed clinically with pulmonary arterial hypertension. Circulation, 136 (21). pp. 2022-2033. ISSN 0009-7322

Rhodes, C.J., Ghataorhe, P., Wharton, J. et al. (18 more authors) (2017) Plasma Metabolomics Implicate Modified Transfer RNAs and Altered Bioenergetics in the Outcome of Pulmonary Arterial Hypertension. Circulation, 135 (5). pp. 460-475. ISSN 0009-7322