Lauren J. Buro-Auriemma, Jacqueline Salit, Neil R. Hackett, Matthew S. Walters, Yael Strulovici-Barel, Michelle R. Staudt, Jennifer Fuller, Mai Mahmoud, Christopher S. Stevenson, Holly Hilton, Melisa W.Y. Ho, Ronald G. Crystal
Hum Mol Genet. 2013 Dec 1; 22(23): 4726–4738. Published online 2013 Jul 10. doi: 10.1093/hmg/ddt326