Publications in collaboration with researchers from Centro de Regulación Genómica (39)

2024

  1. Alzheimer's disease genetic pathways impact cerebrospinal fluid biomarkers and imaging endophenotypes in non-demented individuals

    Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 6146-6160

2023

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

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

  2. Metabolic rewiring induced by ranolazine improves melanoma responses to targeted therapy and immunotherapy

    Nature Metabolism, Vol. 5, Núm. 9, pp. 1544-1562

  3. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

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

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

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

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

2020

  1. Transcriptomic differences in MSA clinical variants

    Scientific Reports, Vol. 10, Núm. 1

2019

  1. CCND2 and CCND3 hijack immunoglobulin light-chain enhancers in cyclin D12 mantle cell lymphoma

    Blood, Vol. 133, Núm. 9, pp. 940-951

  2. Changes in synaptic proteins precede neurodegeneration markers in preclinical Alzheimer’s disease cerebrospinal fluid*

    Molecular and Cellular Proteomics, Vol. 18, Núm. 3, pp. 546-560

  3. PATJ Low Frequency Variants Are Associated with Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis

    Circulation Research, Vol. 124, Núm. 1, pp. 114-120

  4. The circulating transcriptome as a source of biomarkers for melanoma

    Cancers, Vol. 11, Núm. 1

2018

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

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

  2. Prenatal co-exposure to neurotoxic metals and neurodevelopment in preschool children: The Environment and Childhood (INMA) Project

    Science of the Total Environment, Vol. 621, pp. 340-351

2017

  1. Fruit and vegetable intake and vitamin C transporter gene (SLC23A2) polymorphisms in chronic lymphocytic leukaemia

    European Journal of Nutrition, Vol. 56, Núm. 3, pp. 1123-1133

  2. 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

2016

  1. Drinking water disinfection by-products, genetic polymorphisms, and birth outcomes in a european mother-child cohort study

    Epidemiology, Vol. 27, Núm. 6, pp. 903-911