Ning Liu, Kelly Schoch, Xi Luo, Loren D M Pena, Venkata Hemanjani Bhavana, Mary K Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen L Deak, Marie T McDonald, Allyn McConkie-Rosell, M Louise Markert, Peter G Kranz, Nicholas Stong, Anna C Need, David Bick, Michelle D Amaral, Elizabeth A Worthey, Shawn Levy, Undiagnosed Diseases Network (UDN), Michael F Wangler, Hugo J Bellen, Vandana Shashi, Shinya Yamamoto
Hum Mol Genet. 2018 Jul 15; 27(14): 2454–2465. Published online 2018 May 2. doi: 10.1093/hmg/ddy146