Publications by the researcher in collaboration with (12)

2026

  1. Novel SERPING1 Genetic Variant in Two Family Members with Hereditary Angioedema

    Acta Medica Portuguesa, Vol. 39, Núm. 4, pp. 299-302

2025

  1. A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice

    European Journal of Human Genetics, Vol. 33, Núm. 11, pp. 1509-1519

  2. Whole Exome Sequencing in Drug-Induced Angioedema Caused by Angiotensin-Converting Enzyme Inhibitors: A Pilot Study in Five Patients

    Journal of Clinical Medicine, Vol. 14, Núm. 5

2024

  1. Genomic epidemiology of the primary methicillin-resistant Staphylococcus aureus clones causing invasive infections in Paraguayan children

    Microbiology Spectrum, Vol. 12, Núm. 4

2022

  1. A catalog of the genetic causes of hereditary angioedema in the Canary Islands (Spain)

    Frontiers in Immunology, Vol. 13

  2. Evaluation of a whole-exome sequencing pipeline and benchmarking of causal germline variant prioritizers

    Human Mutation, Vol. 43, Núm. 12, pp. 2010-2020

2021

  1. First census of patients with hereditary angioedema in the canary islands

    Journal of Clinical Medicine, Vol. 10, Núm. 20

2020

  1. Corrigendum: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics (Frontiers in Genetics, (2019), 10, 10.3389/fgene.2019.00900)

    Frontiers in Genetics

  2. Evaluation of whole-exome enrichment solutions: Lessons from the high-end of the short-read sequencing scale

    Journal of Clinical Medicine, Vol. 9, Núm. 11, pp. 1-22

  3. Interactive web-based resource for annotation of genetic variants causing hereditary angioedema (HADA): Database development, implementation, and validation

    Journal of Medical Internet Research, Vol. 22, Núm. 10

2019

  1. Bradykinin-mediated angioedema: An update of the genetic causes and the impact of genomics

    Frontiers in Genetics, Vol. 10, Núm. SEP

  2. Whole-exome sequencing identifies somatic mutations associated with mortality in metastatic clear cell kidney carcinoma

    Frontiers in Genetics, Vol. 10, Núm. MAY