Publicaciones en colaboración con investigadores/as de Lieber Institute for Brain Development (3)

2023

  1. IntroVerse: a comprehensive database of introns across human tissues

    Nucleic acids research, Vol. 51, Núm. D1, pp. D167-D178

2020

  1. Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

    Science Advances, Vol. 6, Núm. 24

  2. Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

    Nature Communications, Vol. 11, Núm. 1