Publicacións en colaboración con investigadores/as de King Abdulaziz University (23)

2019

  1. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1)

    Nature Communications

  2. Genome-wide association study of germline variants and breast cancer-specific mortality

    British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657

2018

  1. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

    Nature Communications, Vol. 9, Núm. 1

  2. Germline variation at 8q24 and prostate cancer risk in men of European ancestry

    Nature Communications, Vol. 9, Núm. 1

2017

  1. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219

2016

  1. Comprehensive molecular testing in patients with high functioning autism spectrum disorder

    Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52

  2. D5S2500 is an ambiguously characterized STR: Identification and description of forensic microsatellites in the genomics age.

    Forensic Science International: Genetics, Vol. 23, pp. 19-24

2015

  1. Exploration of SNP variants affecting hair colour prediction in Europeans

    International Journal of Legal Medicine, Vol. 129, Núm. 5, pp. 963-975

  2. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3121-3129

  3. Genetic analysis of arrhythmogenic diseases in the era of NGS: The complexity of clinical decision-making in Brugada Syndrome

    PLoS ONE, Vol. 10, Núm. 7

  4. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

  5. Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

    International Journal of Cancer, Vol. 136, Núm. 6, pp. E685-E696

  6. RNA/DNA co-analysis from human skin and contact traces - Results of a sixth collaborative EDNAP exercise

    Forensic Science International: Genetics, Vol. 16, pp. 139-147

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

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

  8. Tetra-allelic SNPs: Informative forensic markers compiled from public whole-genome sequence data

    Forensic Science International: Genetics, Vol. 19, pp. 100-106

2014

  1. A collaborative European exercise on mRNA-based body fluid/skin typing and interpretation of DNA and RNA results

    Forensic Science International: Genetics, Vol. 10, Núm. 1, pp. 40-48

  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

  3. Alcohol consumption and survival after a breast cancer diagnosis: A literature-based meta-analysis and collaborative analysis of data for 29,239 cases

    Cancer Epidemiology Biomarkers and Prevention, Vol. 23, Núm. 6, pp. 934-945

  4. Development of a forensic skin colour predictive test

    Forensic Science International: Genetics, Vol. 13, pp. 34-44

  5. Exploring iris colour prediction and ancestry inference in admixed populations of South America

    Forensic Science International: Genetics, Vol. 13, pp. 3-9