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

2019

  1. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

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

2014

  1. Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 111, Núm. 36, pp. 13127-13132