Publicaciones en colaboración con investigadoras/es de Centro de Regulación Genómica (21)

2023

  1. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  2. microRNA sequencing for biomarker detection in the diagnosis, classification and prognosis of Diffuse Large B Cell Lymphoma

    Scientific reports, Vol. 13, Núm. 1, pp. 12159

2022

  1. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  3. Genomic analysis of 18th-century kazakh individuals and their oral microbiome

    Biology, Vol. 10, Núm. 12

  4. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  5. Salmonella enterica from a soldier from the 1652 siege of Barcelona (Spain) supports historical transatlantic epidemic contacts

    iScience, Vol. 24, Núm. 9

  6. Transcriptome analysis in LRRK2 and idiopathic Parkinson’s disease at different glucose levels

    npj Parkinson's Disease, Vol. 7, Núm. 1

2020

  1. Plasmodium vivax Malaria Viewed through the Lens of an Eradicated European Strain

    Molecular Biology and Evolution, Vol. 37, Núm. 3, pp. 773-785

  2. Transcriptomic differences in MSA clinical variants

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. Analysis of Vibrio harveyi adaptation in sea water microcosms at elevated temperature provides insights into the putative mechanisms of its persistence and spread in the time of global warming

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. MicroRNA alterations in iPSC-derived dopaminergic neurons from Parkinson disease patients

    Neurobiology of Aging, Vol. 69, pp. 283-291

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

2014

  1. DREAM controls the on/off switch of specific activity-dependent transcription pathways

    Molecular and Cellular Biology, Vol. 34, Núm. 5, pp. 877-887

  2. Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European

    Nature, Vol. 507, Núm. 7491, pp. 225-228

  3. Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France

    Scientific Reports, Vol. 4

2013

  1. In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs

    Human Mutation, Vol. 34, Núm. 10, pp. 1387-1395

  2. Targeting the endocannabinoid system in the treatment of fragile X syndrome

    Nature Medicine, Vol. 19, Núm. 5, pp. 603-607

2012

  1. Gene expression analysis of the embryonic subplate

    Cerebral Cortex, Vol. 22, Núm. 6, pp. 1343-1359