Publicaciones en colaboración con investigadores/as de Centro de Regulación Genómica (13)

2023

  1. GENCODE: reference annotation for the human and mouse genomes in 2023

    Nucleic Acids Research, Vol. 51, Núm. D1, pp. D942-D949

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225

2017

  1. GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence after Stroke

    Stroke, Vol. 48, Núm. 5, pp. 1147-1153

2015

  1. Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction

    BMC Genomics, Vol. 16, Núm. 8

2014

  1. Bioactive membranes for bone regeneration applications: Effect of physical and biomolecular signals on mesenchymal stem cell behavior

    Acta Biomaterialia, Vol. 10, Núm. 1, pp. 134-141

2012

  1. An integrated encyclopedia of DNA elements in the human genome

    Nature, Vol. 489, Núm. 7414, pp. 57-74

  2. Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

    Genome Research, Vol. 22, Núm. 9, pp. 1698-1710

  3. GENCODE: The reference human genome annotation for the ENCODE project

    Genome Research, Vol. 22, Núm. 9, pp. 1760-1774

  4. The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression

    Genome Research, Vol. 22, Núm. 9, pp. 1775-1789

2009

  1. Association between leptin receptor (LEPR) and brain-derived neurotrophic factor (BDNF) gene variants and obesity: A case-control study

    Nutritional Neuroscience, Vol. 12, Núm. 4, pp. 183-188

  2. Structure-Based Prediction of the Saccharomyces cerevisiae SH3-Ligand Interactions

    Journal of Molecular Biology, Vol. 388, Núm. 4, pp. 902-916

2007

  1. High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in Northern Spain: Mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 12, pp. 4853-4864

  2. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry

    Annals of Human Genetics, Vol. 71, Núm. 2, pp. 194-201