Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways
Thomas V. Fernandez, Zsanett P. Williams, Tina Kline, Shreenath Rajendran, Farhan Augustine, Nicole R. Davis Wright, Catherine A.W. Sullivan, Emily Olfson, Sarah B. Abdallah, Wenzhong Liu, Ellen J. Hoffman, Abha R. Gupta, Harvey S. Singer
The paper identifies de novo damaging DNA mutations in CMS patients, linking them to risk genes and biological pathways related to motor stereotypies.
bioRxiv · Aug 13, 2019 · PreprintGenomics