Publication
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
Peter Gergics, Cathy Smith, Hironori Bando, Alexander A.L. Jorge, Denise Rockstroh-Lippold, Sebastian A. Vishnopolska, Frederic Castinetti, Mariam Maksutova, Luciani Renata Silveira Carvalho, Julia Hoppmann, Julián Martínez Mayer, Frédérique Albarel, Debora Braslavsky, Ana Keselman, Ignacio Bergadá, Marcelo A. Martí, Alexandru Saveanu, Anne Barlier, Rami Abou Jamra, Michael H. Guo, Andrew Dauber, Marilena Nakaguma, Berenice B. Mendonca, Sajini N. Jayakody, A. Bilge Ozel, Qing Fang, Qianyi Ma, Jun Z. Li, Thierry Brue, María Ines Pérez Millán, Ivo J.P. Arnhold, Roland Pfaeffle, Jacob O. Kitzman, Sally A. Camper
The American Journal of Human Genetics, August 2021, Elsevier
DOI: 10.1016/j.ajhg.2021.06.013