Publications in collaboration with researchers from University Hospital of Bern (3)

2024

  1. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    eBioMedicine, Vol. 99

2023

  1. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2020

  1. Variants of STAR, AMH and ZFPM2/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1

    International Journal of Molecular Sciences, Vol. 21, Núm. 22, pp. 1-18