Publications by the researcher in collaboration with Lorenzo Monserrat Iglesias (8)

2022

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

    Scientific Reports, Vol. 12, Núm. 1

2021

  1. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

    npj Genomic Medicine, Vol. 6, Núm. 1

2020

  1. A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

    Canadian Journal of Cardiology, Vol. 36, Núm. 9, pp. 1554.e1-1554.e3

2018

  1. A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

    BioMed Research International, Vol. 2018

2015

  1. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

    Heart, Vol. 101, Núm. 13, pp. 1047-1053

2010

  1. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  2. Disease: Cardiomyopathy, hypertrophic

    Human Genetics

  3. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy

    BMC Medical Genetics, Vol. 11, Núm. 1