Publicacións en colaboración con investigadores/as de Hospital do Meixoeiro (19)

2020

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

2019

  1. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

    American Journal of Human Genetics, Vol. 104, Núm. 1, pp. 21-34

2017

  1. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

2015

  1. Thyroid pathology findings in Cowden syndrome: A clue for the diagnosis of the PTEN hamartoma tumor syndrome

    American Journal of Clinical Pathology, Vol. 144, Núm. 2, pp. 322-328

2014

  1. A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer

    Human Genetics, Vol. 133, Núm. 5, pp. 525-534

2013

  1. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

    BMC Genomics, Vol. 14, Núm. 1

  2. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations

    Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318

  3. Genetic susceptibility variants associated with colorectal cancer prognosis

    Carcinogenesis, Vol. 34, Núm. 10, pp. 2286-2291

2012

  1. COGENT (COlorectal cancer GENeTics) revisited

    Mutagenesis, Vol. 27, Núm. 2, pp. 143-151

  2. Increased clopidogrel response is associated with ABCC3 expression: A pilot study

    Clinica Chimica Acta, Vol. 413, Núm. 3-4, pp. 417-421

2011

  1. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262

  2. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: Previously identified variants and mucins

    BMC Cancer, Vol. 11

2010

  1. CADASIL: Comunicación de una familia con una nueva mutación p.G296C en el exón 6 del gen Notch-3

    Revista de Neurologia, Vol. 51, Núm. 12, pp. 729-732

  2. Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: A two-stage case-control study

    Cancer Epidemiology Biomarkers and Prevention, Vol. 19, Núm. 2, pp. 619-623

  3. Single nucleotide polymorphisms in the wnt and bmp pathways and colorectal cancer risk in a spanish cohort

    PLoS ONE, Vol. 5, Núm. 9, pp. 1-9

  4. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype

    Gastroenterology, Vol. 139, Núm. 3

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

2004

  1. A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

    Archives of Neurology, Vol. 61, Núm. 7, pp. 1108-1110

2003

  1. Banco de Tejidos Neurológicos en el Laboratorio de Neuropatología. Organización básica

    Neurologia, Vol. 18, Núm. 10, pp. 709-715