Publicaciones en colaboración con investigadores/as de Hospital Miguel Servet (14)

2024

  1. APOE and familial hypercholesterolemia

    Current Opinion in Lipidology, Vol. 35, Núm. 4, pp. 195-199

  2. OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues

    Advanced Science, Vol. 11, Núm. 13

2023

  1. Contribution of APOE Genetic Variants to Dyslipidemia

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 43, Núm. 6, pp. 1066-1077

  2. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

2022

  1. Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 42, Núm. 7, pp. E203-E216

  2. Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation

    Atherosclerosis, Vol. 349, pp. 211-218

2021

  1. Diagnostic yield of sequencing familial hypercholesterolemia genes in individuals with primary hypercholesterolemia

    Revista Espanola de Cardiologia, Vol. 74, Núm. 8, pp. 664-673

  2. MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of LDLr Missense Variants

    JACC: Basic to Translational Science, Vol. 6, Núm. 11, pp. 815-827

2020

  1. Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia

    Atherosclerosis, Vol. 292, pp. 143-151

2019

  1. Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene

    Atherosclerosis, Vol. 282, pp. 143-147

  2. The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9

    Atherosclerosis, Vol. 289, pp. 162-172

2018

  1. Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition

    PLoS ONE, Vol. 13, Núm. 10

2016

  1. The p.Leu167del mutation in APOE gene causes autosomal dominant hypercholesterolemia by down-regulation of LDL receptor expression in hepatocytes

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 5, pp. 2113-2121

2015

  1. Functional characterization and classification of frequent low-density lipoprotein receptor variants

    Human Mutation, Vol. 36, Núm. 1, pp. 129-141