TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

Lindsey D. Goodman, Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu, An‐Chi Tien, Rolph Pfundt, David A. Koolen, Charlotte A. Haaxma, Hermine E. Veenstra‐Knol, Jolien S. Klein Wassink‐Ruiter, Marijke R. Wevers, Melissa K. Jones, Laurence E. Walsh, Victoria H. Klee, Miel Theunis, Eric Legius, Dora Steel, Katy Barwick, Manju A. Kurian, Shekeeb S. Mohammad, Russell C. Dale, Paulien A. Terhal, Ellen van Binsbergen, Brian Kirmse, Bethany Robinette, Benjamin Cogné, Bertrand Isidor, Theresa A. Grebe, Peggy Kulch, Bryan E. Hainline, Katherine Sapp, Éva Morava, Eric W. Klee, Erica L. Macke, Pamela Trapane, Christopher Spencer, Yue Si, Amber Begtrup, Matthew J. Moulton, Debdeep Dutta, Oguz Kanca, Michael F. Wangler, Shinya Yamamoto, Hugo J. Bellen, Queenie K.‐G. Tan