1. Biallelic mutations in sord are a common cause of potentially treatable genetic neuropathy. Issue 6 (27th May 2022) Authors: Cortese, Andrea; Zhu, Yi; Rebelo, Adriana; Negri, Sara; Courel, Steve; Abreu, Lisa; Bacon, Chelsea J; Bai, Yunhong; Bis-Brewer, Dana M Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Prot2HG: a database of protein domains mapped to the human genome. (15th April 2020) Authors: Stanek, David; Bis-Brewer, Dana M; Saghira, Cima; Danzi, Matt C; Seeman, Pavel; Lassuthova, Petra; Zuchner, Stephan Journal: Database Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗