Publicaciones en colaboración con investigadoras/es de Instituto Nacional de Saúde Dr. Ricardo Jorge (10)

2021

  1. LDLR variants functional characterization: Contribution to variant classification

    Atherosclerosis, Vol. 329, pp. 14-21

2019

  1. Functional analysis of LDLR (low-density lipoprotein receptor) variants in patient lymphocytes to assess the effect of evinacumab in homozygous familial hypercholesterolemia patients with a spectrum of LDLR activity

    Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 39, Núm. 11, pp. 2248-2260

2018

  1. Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia

    Atherosclerosis, Vol. 277, pp. 448-456

2015

  1. Characterization of the First PCSK9 Gain of Function Homozygote

    Journal of the American College of Cardiology

  2. Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity

    Scientific Reports, Vol. 5

  3. The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia

    Genetics in Medicine, Vol. 17, Núm. 12, pp. 980-988

2014

  1. Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

    PLoS ONE, Vol. 9, Núm. 11

  2. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia

    Human Molecular Genetics, Vol. 23, Núm. 7, pp. 1817-1828

2009

  1. Planning the human variome project: The Spain report

    Human Mutation, Vol. 30, Núm. 4, pp. 496-510

1998

  1. The Δccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe

    Human Molecular Genetics, Vol. 7, Núm. 3, pp. 399-406