Publicacións en colaboración con investigadores/as de University of Miami (4)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

    Nature Genetics, Vol. 54, Núm. 9, pp. 1275-1283

2020

  1. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

    Brain, Vol. 143, Núm. 10, pp. 2929-2944

2019

  1. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

    American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 767-773