1. A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders. Issue 14 (3rd July 2020) Authors: Hayward, Bruce E; Steinbach, Peter J; Usdin, Karen Journal: Nucleic acids research Issue: Volume 48:Issue 14(2020) Page Start: 7856 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Enhanced spontaneous DNA twisting/bending fluctuations unveiled by fluorescence lifetime distributions promote mismatch recognition by the Rad4 nucleotide excision repair complex. Issue 3 (18th December 2017) Authors: Chakraborty, Sagnik; Steinbach, Peter J; Paul, Debamita; Mu, Hong; Broyde, Suse; Min, Jung-Hyun; Ansari, Anjum Journal: Nucleic acids research Issue: Volume 46:Issue 3(2018) Page Start: 1240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter. Issue 24 (1st August 2022) Authors: Batzios, Spyros; Tal, Galit; DiStasio, Andrew T; Peng, Yanyan; Charalambous, Christiana; Nicolaides, Paola; Kamsteeg, Erik-Jan; Korman, Stanley H; Mandel, Hanna; Steinbach, Peter J; Yi, Ling; Fair, Summer R; Hester, Mark E; Drousiotou, Anthi; Kaler, Stephen G Journal: Human molecular genetics Issue: Volume 31:Issue 24(2022) Page Start: 4121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗