Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (8)

2022

  1. Using Machine Learning for Predicting the Effect of Mutations in the Initiation Codon

    IEEE Journal of Biomedical and Health Informatics, Vol. 26, Núm. 11, pp. 5750-5756

2020

  1. The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant

    Frontiers in Genetics, Vol. 11

2019

  1. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 5-28

2018

  1. Lost in translation: Bioinformatic analysis of variations affecting the translation initiation codon in the human genome

    Bioinformatics, Vol. 34, Núm. 22, pp. 3788-3794

2017

  1. Defects of splicing in antithrombin deficiency

    Research and Practice in Thrombosis and Haemostasis, Vol. 1, Núm. 2, pp. 216-222

  2. High levels of latent antithrombin in plasma from patients with antithrombin deficiency

    Thrombosis and Haemostasis, Vol. 117, Núm. 5, pp. 880-888

  3. Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

    Scientific Reports, Vol. 7

2016

  1. Natural killer cell receptors and cytotoxic activity in phosphomannomutase 2 deficiency (PMM2-CDG)

    PLoS ONE, Vol. 11, Núm. 7