Publication
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Elizabeth E. Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O. Hashem, Fajr A. Aleisa, Heba M. Jalal Ahmed, Tejaswi Kandula, Rebecca Macintosh, Andre E. Minoche, Clare Puttick, Velimir Gayevskiy, Alexander P. Drew, Mark J. Cowley, Marcel Dinger, Jill A. Rosenfeld, Rui Xiao, Megan T. Cho, Suliat F. Yakubu, Lindsay B. Henderson, Maria J. Guillen Sacoto, Amber Begtrup, Muddathir Hamad, Marwan Shinawi, Marisa V. Andrews, Marilyn C. Jones, Kristin Lindstrom, Ruth E. Bristol, Saima Kayani, Molly Snyder, María Mercedes Villanueva, Angeles Schteinschnaider, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Tony Roscioli, Edwin P. Kirk, Ann Bye, Jasmeen Merzaban, Łukasz Jaremko, Mariusz Jaremko, Rani K. Sachdev, Fowzan S. Alkuraya, Stefan T. Arold
The American Journal of Human Genetics, March 2019, Elsevier
DOI: 10.1016/j.ajhg.2019.01.013