This work was supported by the Eunice K. Shriver National Institute for Child Health and Human Development (P50 HD-28138 to S.B.S., support for W.X. and L.P., 1K23HD097296 to M.F.L., K23 HD077043 to R.B., R01 HD096324 to R.B.); Catalyst Medical Research Investigator Training Award to M.F.L.; National Center for Advancing Translational Sciences, National Institutes of Health Award UL 1TR002541 and by financial contributions from Harvard University and its affiliated academic health care centers to Harvard Catalyst/the Harvard Clinical and Translational Science Center. S.B.S. is a Robert and Laura Reynolds Research Scholar. The content is solely the responsibility of the authors and does not necessarily represent the official views of Harvard Catalyst, Harvard University, its affiliated academic health care centers, or the National Institutes of Health. We thank the research subjects and referring providers [Fotini Adamidou, Tania Aguirre, Iram Ahmad, Abdulmoein Al-Agha, Jonathan Anolik, Anita Azam, Bert Bachrach, Hagit Baris, Gerhard Baumann, Lynn Bennion, Pierre Bouloux, Jan Bruder, Jean Pierre Chanoine, Jeannette Chinchilla, Jin-Ho Choi, Thomas P Clairmont, Amy Criego, Ashwin Dalal, Angela Delaney, Rachel Edelen, Deborah Elder, Micheal Fili, Eric Fliers, John Fowlkes, Larry Fox, Peter Fuller, Dieter Furthner, Neoklis Georgopoulos, Nadine Haddad, Sheri Horsburgh, Louise Izatt, Silvia Kaufmann, Sjoberg Kho, Susan Kirsch, Peter Kopp, Mariarosaria Lang-Muritano, Helene Lavoie, Peter Lee, Selwyn B. Levitt, Irene Mamkin, Veronica Mericq, Daniel Metzger, Kiyonori Miura, Ron Newfield, Metin Ozata, Jose Perez-Rodiguez, Duarte Pignatelli, Richard Quintin, Jose Quintos, Sally Radovick, Cesar Ramos-Remus, Barry Reiner, Elise Rodman, Craig Sadur, Nicole Simon, Arnold Slyper, Rebecca Sokol, Susan Sparks, Phyllis Speiser, Dennis Styne, Diane Suchet, Akira Takeshita, Arthi Thirumalai, Sherida Tollefsen, Kemal Topalolgu, Marshall Tulloch-Reid, Guy Van Vliet, Charles Verge, Teresa Vieira, Darren West, Melissa Woo], without whom this research would not be possible. We also thank Kathy Salnikov and other members of the MGH Reproductive Endocrine Unit for their assistance and input. We thank Andrew Dwyer for reviewing the manuscript. We thank the staff of the Broad Genomic Core.