Publicaciones en colaboración con investigadores/as de University of Texas Southwestern Medical Center (2)

2022

  1. Standardized annotation of translated open reading frames

    Nature Biotechnology

2019

  1. Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

    npj Genomic Medicine, Vol. 4, Núm. 1