Publicacións nas que colabora con Jorge Amigo Lechuga (10)

2023

  1. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

2019

  1. Early colorectal cancers provide new evidence for a lynch syndrome-to-CMMRD phenotypic continuum

    Cancers, Vol. 11, Núm. 8

2018

  1. Whole exome sequencing identifies new host genomic susceptibility factors in empyema caused by streptococcus pneumoniae in children: A pilot study

    Genes, Vol. 9, Núm. 5

2017

  1. Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Mitogenomes from The 1000 Genome Project reveal new Near Eastern features in present-day Tuscans

    PLoS ONE, Vol. 10, Núm. 3

2014

  1. A genome-wide study of modern-day Tuscans: Revisiting Herodotus's theory on the origin of the Etruscans

    PLoS ONE, Vol. 9, Núm. 9

  2. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

    Journal of Medical Genetics, Vol. 51, Núm. 7, pp. 475-478

2013

  1. A Generalized Model to Estimate the Statistical Power in Mitochondrial Disease Studies Involving 2×k Tables

    PLoS ONE, Vol. 8, Núm. 9

2011

  1. Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel

    Forensic Science International: Genetics, Vol. 5, Núm. 3, pp. 155-169

  2. The impact of modern migrations on present-day multi-ethnic Argentina as recorded on the mitochondrial DNA genome

    BMC Genetics, Vol. 12