Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (12)

2024

  1. Comparison of the ABC and ACMG systems for variant classification

    European Journal of Human Genetics

2023

  1. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

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. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294

2015

  1. Susceptibilidad genética al cáncer colorrectal y a la respuesta al tratamiento quimioterápico

    Abordaje multidisciplinar de cáncer colorrectal (Andavira), pp. 411-424

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. Pharmacogenomics in colorectal cancer: A genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration

    Pharmacogenomics Journal, Vol. 13, Núm. 3, pp. 209-217

  2. Vaginal tubulovillous adenoma: A clinicopathologic and molecular study with review of the literature

    International Journal of Gynecological Pathology, Vol. 32, Núm. 1, pp. 131-136

2010

  1. 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

  2. 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

2008

  1. Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

    British Journal of Ophthalmology, Vol. 92, Núm. 10, pp. 1419-1423