Zong Z, Tees S, Miyanji F, Fauth C, Reilly C, Lopez E, Tredwell S, Paul Goldberg Y, Delaney A, Eydoux P, Van Allen M, Lehman A. BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis. Journal of Human Genetics. 2015 Oct 15;60(12):743–7. doi: 10.1038/jhg.2015.116.