Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (12)

2022

  1. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability

    European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945

2019

  1. A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

    Scientific Reports, Vol. 9, Núm. 1

2015

  1. Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients

    Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67

2013

  1. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  2. Microdeleción 2q23.1 y hallazgos sindrómicos

    Revista de Neurologia

2012

  1. X-ray cross-complementing group 1 and thymidylate synthase polymorphisms might predict response to chemoradiotherapy in rectal cancer patients

    International Journal of Radiation Oncology Biology Physics, Vol. 82, Núm. 1, pp. 138-144

2011

  1. Use of a comprehensive panel of biomarkers to predict response to a fluorouracil-oxaliplatin regimen in patients with metastatic colorectal cancer

    Pharmacogenomics, Vol. 12, Núm. 3, pp. 433-442

2010

  1. Estudios Farmacogenéticos del tratamiento con Antipsicóticos: Estado actual y perspectivas

    Actas Espanolas de Psiquiatria, Vol. 38, Núm. 5, pp. 301-316

2009

  1. Molecular diversity at the CYP2D6 locus in healthy and schizophrenic southern Brazilians

    Pharmacogenomics, Vol. 10, Núm. 9, pp. 1457-1466

2008

  1. Naturalistic pharmacogenetic study of treatment resistance to typical neuroleptics in European-Brazilian schizophrenics

    Pharmacogenetics and Genomics, Vol. 18, Núm. 7, pp. 599-609

  2. Three novel mutations in the CFTR gene identified in Galician patients

    Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373