J. G. R. de Andrade

Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis

H. Busch, V. L. Gil-da-Silva-Lopes, G. Guerra‐Júnior, 2020, medRxiv.

Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development

G. Guerra‐Júnior, O. Hiort, M. de Mello, 2018, Human mutation.

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

G. Guerra‐Júnior, F. C. Soardi, M. de Mello, 2014, BMC Medical Genetics.

Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?

G. Guerra‐Júnior, O. Hiort, M. de Mello, 2022, Sexual Development.