Publications in collaboration with researchers from Hospital de Cruces (3)

2023

  1. Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease

    European Journal of Human Genetics, Vol. 31, Núm. 5, pp. 568-577

2021

  1. A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons

    Human Mutation, Vol. 42, Núm. 5, pp. 551-566

2018

  1. A pathogenic role for germline PTEN variants which accumulate into the nucleus

    European Journal of Human Genetics, Vol. 26, Núm. 8, pp. 1180-1187