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

2021

  1. Genetics of human sexual development and related disorders

    Current opinion in pediatrics, Vol. 33, Núm. 6, pp. 556-563