Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)

2023

  1. CRISPR/dCAS9-mediated DNA demethylation screen identifies functional epigenetic determinants of colorectal cancer

    Clinical Epigenetics, Vol. 15, Núm. 1

2019

  1. Association of the POT1 Germline Missense Variant p.I78T with Familial Melanoma

    JAMA Dermatology, Vol. 155, Núm. 5, pp. 604-609

2018

  1. Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

    Nature Communications, Vol. 9, Núm. 1

2016

  1. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  2. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2015

  1. Common and rare variants of microRNA genes in autism spectrum disorders

    World Journal of Biological Psychiatry, Vol. 16, Núm. 6, pp. 376-386

  2. Nuclear DICKKOPF-1 as a biomarker of chemoresistance and poor clinical outcome in colorectal cancer

    Oncotarget, Vol. 6, Núm. 8, pp. 5903-5917

2014

  1. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

    Molecular Psychiatry, Vol. 19, Núm. 7, pp. 784-790

2013

  1. Sporadic and reversible chromothripsis in chronic lymphocytic leukemia revealed by longitudinal genomic analysis

    Leukemia