Luciani R. S. Carvalho

The paper analyzes pituitary transcriptional dynamics in mouse models of congenital hypopituitarism across developmental stages, revealing distinct gene expression patterns and functional impairments in Prop1 mutants.

The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.

This study identifies DHX37 variants as a novel molecular cause of 46,XY gonadal dysgenesis, particularly in embryonic testicular regression syndrome.