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Items: 3

1.
Caridad Martinez, Frédéric Ebstein, Sarah K. Nicholas, Marietta De Guzman, Lisa R. Forbes, Ottavia M. Delmonte, Marita Bosticardo, Riccardo Castagnoli, Robert Krance, Luigi D. Notarangelo, Elke Krüger, Jordan S. Orange, M. Cecilia Poli
Blood. 2021 Nov 11; 138(19): 1896–1901. doi: 10.1182/blood.2021011005
PMCID:
PMC8586965
2.
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
3.
Anja Brehm, Yin Liu, Afzal Sheikh, Bernadette Marrero, Ebun Omoyinmi, Qing Zhou, Gina Montealegre, Angelique Biancotto, Adam Reinhardt, Adriana Almeida de Jesus, Martin Pelletier, Wanxia L. Tsai, Elaine F. Remmers, Lela Kardava, Suvimol Hill, Hanna Kim, Helen J. Lachmann, Andre Megarbane, Jae Jin Chae, Jilian Brady, Rhina D. Castillo, Diane Brown, Angel Vera Casano, Ling Gao, Dawn Chapelle, Yan Huang, Deborah Stone, Yongqing Chen, Franziska Sotzny, Chyi-Chia Richard Lee, Daniel L. Kastner, Antonio Torrelo, Abraham Zlotogorski, Susan Moir, Massimo Gadina, Phil McCoy, Robert Wesley, Kristina Rother, Peter W. Hildebrand, Paul Brogan, Elke Krüger, Ivona Aksentijevich, Raphaela Goldbach-Mansky
J Clin Invest. 2015 Nov 2; 125(11): 4196–4211. Published online 2015 Oct 20. doi: 10.1172/JCI81260
PMCID:
PMC4639987

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