A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E. McCarthy, Carl Baker, Heather C. Mefford, Jeffrey M. Kidd, Sharon R. Browning, Brian L. Browning, Diane E. Dickel, Deborah L. Levy, Blake C. Ballif, Kathryn Platky, Darren M. Farber, Gordon C. GowansJessica J. Wetherbee, Alexander Asamoah, David D. Weaver, Paul R. Mark, Jennifer Dickerson, Bhuwan P. Garg, Sara A. Ellingwood, Rosemarie Smith, Valerie C. Banks, Wendy Smith, Marie T. McDonald, Joe J. Hoo, Beatrice N. French, Cindy Hudson, John P. Johnson, Jillian R. Ozmore, John B. Moeschler, Urvashi Surti, Luis F. Escobar, Dima El-Khechen, Jerome L. Gorski, Jennifer Kussmann, Bonnie Salbert, Yves Lacassie, Alisha Biser, Donna M. McDonald-Mcginn, Elaine H. Zackai, Matthew A. Deardorff, Tamim H. Shaikh, Eric Haan, Kathryn L. Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E. Delisi, Jonathan Sebat, Mary Claire King, Lisa G. Shaffer, Evan E. Eichler

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Biochemistry, Genetics and Molecular Biology