Publications in collaboration with researchers from Lieber Institute for Brain Development (4)

2025

  1. Splicing accuracy varies across human introns, tissues, age and disease

    Nature communications, Vol. 16, Núm. 1, pp. 1068

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