Publicacións (12) Publicacións nas que participase algún/ha investigador/a

filter_list Genetics, Medical

2024

  1. Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

    Journal of Medical Genetics, Vol. 61, Núm. 5, pp. 423-427

2022

  1. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

    Scientific Reports, Vol. 12, Núm. 1

  2. Selection of the best of 2021 in familial heart disease and cardiovascular genetics

    REC: CardioClinics, Vol. 57, pp. S54-S59

2020

  1. Desarrollo y validación de un panel de secuenciación masiva en paralelo para farmacogenética clínica

    Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria, Vol. 44, Núm. 6, pp. 243-253

  2. Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy

    Gene, Vol. 746

  3. Prognostic implications of pathogenic truncating variants in the TTN gene

    International Journal of Cardiology, Vol. 316, pp. 180-183

2018

  1. Approach to familial heart diseases from Genomic Medicine

    Revista Colombiana de Cardiologia

  2. Genetic and genomic technologies: Next generation sequencing for inherited cardiovascular conditions

    Cardiovascular Genetics and Genomics: Principles and Clinical Practice (Springer International Publishing), pp. 97-117

2015

  1. Genetics of cardiomyopathies: Novel perspectives with next generation sequencing

    Current Pharmaceutical Design, Vol. 21, Núm. 4, pp. 418-430

2013

  1. p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient

    Heart Rhythm, Vol. 10, Núm. 2, pp. 264-272

2010

  1. Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease

    Prenatal Diagnosis, Vol. 30, Núm. 8, pp. 758-763

  2. Genetic counselling and testing in cardiomyopathies: A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

    European Heart Journal