Daniel Trujillano
Universitat Pompeu Fabra(ES)Centre for Genomic Regulation(ES)
Publications by Year
Research Areas
Cardiac Valve Diseases and Treatments, Cystic Fibrosis Research Advances, Genomics and Rare Diseases, Renal and related cancers, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Clinical exome sequencing: results from 2819 samples reflecting 1000 families(2016)366 cited
- → KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron(2012)331 cited
- → Mutations in DCHS1 cause mitral valve prolapse(2015)198 cited
- → Long Noncoding RNAs, Chromatin, and Development(2010)157 cited
- → Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity(2014)83 cited
- → Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next‐generation sequencing(2014)76 cited
- → A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy(2016)73 cited
- → A comprehensive global genotype–phenotype database for rare diseases(2016)71 cited
- → Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer(2014)62 cited
- → Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans(2017)60 cited