Publicacións (11) Publicacións de Luis Santomé Collazo

2022

  1. Combining familial hypercholesterolemia and statin genetic studies as a strategy for the implementation of pharmacogenomics. A multidisciplinary approach

    Pharmacogenomics Journal, Vol. 22, Núm. 3, pp. 180-187

  2. 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. 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. Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

    Heart, Vol. 106, Núm. 17, pp. 1342-1348

2019

  1. A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations

    Molecular Genetics and Genomic Medicine, Vol. 7, Núm. 5

  2. First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene

    Revista Espanola de Cardiologia, Vol. 72, Núm. 7, pp. 585-587

2016

  1. Targeted resequencing of regulatory regions at schizophrenia risk loci: Role of rare functional variants at chromatin repressive states

    Schizophrenia Research, Vol. 174, Núm. 1-3, pp. 10-16

2015

  1. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Applied and Translational Genomics, Vol. 5, pp. 33-36

2011

  1. Un caso de síndrome de Noonan con enfermedad celíaca debido a mutación en SOS1

    Medicina Clinica

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