Daniel Trujillano

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 361 citations · Full text

Wes Processes, Genetics, Genetic Epidemiology +21

KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron

Hélène Louis-Dit-Picard, Julien Barc, Daniel Trujillano et al. · Nature Genetics · 2012 · 330 citations · Full text

Ion Transport, Hypertonicity, Urology +9

Mutations in DCHS1 cause mitral valve prolapse

Ronen Durst, Kimberly Sauls, David S. Peal et al. · Nature · 2015 · 195 citations · Full text

Medicine, Cell Signaling, Pathology +1

Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity

Gemma Bullich, Daniel Trujillano, Sheila Santín et al. · European Journal of Human Genetics · 2014 · 83 citations · Full text

Glomerulonephritis, Renal Function, Multiple Glomerular Genes +10

Diagnosis of autosomal dominant polycystic kidney disease using efficient <i>PKD1</i> and <i>PKD2</i> targeted next‐generation sequencing

Daniel Trujillano, Gemma Bullich, Stephan Ossowski et al. · Molecular Genetics & Genomic Medicine · 2014 · 76 citations · Full text

Engineering, Pathology, Bioinformatics Analysis +18