Publicaciones en colaboración con investigadoras/es de University of Tampere (13)

2024

  1. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

2023

  1. Surgeons’ perspectives on artificial intelligence to support clinical decision-making in trauma and emergency contexts: results from an international survey

    World Journal of Emergency Surgery, Vol. 18

2021

  1. DNA methylation signatures of aggression and closely related constructs: A meta-analysis of epigenome-wide studies across the lifespan

    Molecular Psychiatry, Vol. 26, Núm. 6, pp. 2148-2162

  2. Growth and development of islet autoimmunity and type 1 diabetes in children genetically at risk

    Diabetologia, Vol. 64, Núm. 4, pp. 826-835

2020

  1. Genotype–phenotype correlations in recessive titinopathies

    Genetics in Medicine, Vol. 22, Núm. 12, pp. 2029-2040

  2. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

    Brain, Vol. 143, Núm. 9, pp. 2696-2708

2018

  1. DNA methylation in childhood asthma: an epigenome-wide meta-analysis

    The Lancet Respiratory Medicine, Vol. 6, Núm. 5, pp. 379-388

2017

  1. Global, regional, and national age-sex specifc mortality for 264 causes of death, 1980-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1151-1210

  2. Global, regional, and national under-5 mortality, adult mortality, age-specific mortality, and life expectancy, 1970-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1084-1150

2016

  1. Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy

    Nature Communications, Vol. 7

2015

  1. Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 386, Núm. 10010, pp. 2287-2323

2012

  1. Angiogenesis-related gene expression analysis in celiac disease

    Autoimmunity, Vol. 45, Núm. 3, pp. 264-270

2011

  1. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

    Nature Medicine, Vol. 17, Núm. 6, pp. 720-725