1. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. Issue 2 (7th July 2016) Authors: Berko, Esther R; Cho, Megan T; Eng, Christine; Shao, Yunru; Sweetser, David A; Waxler, Jessica; Robin, Nathaniel H; Brewer, Fallon; Donkervoort, Sandra; Mohassel, Payam; Bönnemann, Carsten G; Bialer, Martin; Moore, Christine; Wolfe, Lynne A; Tifft, Cynthia J; Shen, Yufeng; Retterer, Kyle; Millan,... Journal: Journal of medical genetics Issue: Volume 54:Issue 2(2017) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. Issue 4 (8th February 2021) Authors: Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H.; Hickey, Scott E.; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A.; Armstrong‐Javors, Amy; Mencacci, Niccolò E.; Gonzàlez‐Latapi, Paulina; Kamel, Walaa A.; Al‐H... Journal: Annals of neurology Issue: Volume 89:Issue 4(2021) Page Start: 828 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗