Publicaciones en colaboración con investigadoras/es de Centro de Regulación Genómica (11)

2024

  1. A deep learning method that identifies cellular heterogeneity using nanoscale nuclear features

    Nature Machine Intelligence, Vol. 6, Núm. 9, pp. 1021-1033

2023

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

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

  2. Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy

    Cell reports, Vol. 42, Núm. 12, pp. 113490

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

2018

  1. 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. 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

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

2012

  1. Indoor air pollution from gas cooking and infant neurodevelopment

    Epidemiology, Vol. 23, Núm. 1, pp. 23-32

2010

  1. In vivo effects of APP are not exacerbated by BACE2 co-overexpression: Behavioural characterization of a double transgenic mouse model

    Amino Acids, Vol. 39, Núm. 5, pp. 1571-1580