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Items: 3

1.
M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, Marietta M. de Guzman, Lisa R. Forbes, Ivan K. Chinn, Emily M. Mace, Tiphanie P. Vogel, Alexandre F. Carisey, Felipe Benavides, Zeynep H. Coban-Akdemir, Richard A. Gibbs, Shalini N. Jhangiani, Donna M. Muzny, Claudia M.B. Carvalho, Deborah A. Schady, Mahim Jain, Jill A. Rosenfeld, Lisa Emrick, Richard A. Lewis, Brendan Lee, Undiagnosed Diseases Network members, Barbara A. Zieba, Sébastien Küry, Elke Krüger, James R. Lupski, Bret L. Bostwick, Jordan S. Orange
Am J Hum Genet. 2018 Jun 7; 102(6): 1126–1142. Published online 2018 May 24. doi: 10.1016/j.ajhg.2018.04.010
PMCID:
PMC5992134
2.
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
3.
Lena Burri, Jörg Höckendorff, Ulrich Boehm, Thorsten Klamp, R. Jürgen Dohmen, Frédéric Lévy
Proc Natl Acad Sci U S A. 2000 Sep 12; 97(19): 10348–10353. Published online 2000 Sep 5. doi: 10.1073/pnas.190268597
PMCID:
PMC27027

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