Lohmann K, Redin C, Tönnies H, et al. Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol. 2017;74(7):806-812. doi:10.1001/jamaneurol.2017.0666
Aneichyk T, Hendriks WT, Yadav R, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018;172(5):897-909.e21. doi:10.1016/j.cell.2018.02.011