July 20, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
Happy to share our study applying splicing MAVEs to hypopituitarism, out at @AJHGNews https://doi.org/10.1016/j.ajhg.2021.06.013 - a team effort w/former postdoc Peter Gergics in Sally Camper’s lab @UM_Genetics, PhD student in my lab @smithcat1661, and collaborators worldwide.
Pituitary
