T. E. da Silva

DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

E. Vilain, C. Keegan, H. Barseghyan, 2018, bioRxiv.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

J. Achermann, B. Ferraz-de-Souza, Lin Lin, 2016, Birth defects research. Part C, Embryo today : reviews.

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis.

B. Mendonca, V. Brito, S. Domenice, 2012, European journal of medical genetics.

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys–Drash syndrome

B. Mendonca, R. Martin, F. Carvalho, 2011, Pediatric Nephrology.

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

E. Vilain, C. Keegan, R. Mitchell, 2019, The Journal of clinical endocrinology and metabolism.