1. Clinical Interpretation of Variants from Next‐Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society. Issue 10 (21st August 2016) Authors: Oetting, William S.; Brookes, Anthony J.; Béroud, Christophe; Taschner, Peter E. Journal: Human mutation Issue: Volume 37:Issue 10(2016) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel CLN3 mutation causing autophagic vacuolar myopathy. (10th February 2015) Authors: Taschner, Peter E. Journal: Neurology Issue: Volume 84:Number 6(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society. Issue 4 (12th February 2016) Authors: Oetting, William S.; Brenner, Steven E.; Brookes, Anthony J.; Greenblatt, Marc S.; Hart, Reece K.; Karchin, Rachel; Sunyaev, Shamil R.; Taschner, Peter E. Journal: Human mutation Issue: Volume 37:Issue 4(2016) Page Start: 406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Issue 10 (17th September 2015) Authors: Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O.M.; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Ma... Journal: Human mutation Issue: Volume 36:Issue 10(2015:Oct.) Page Start: 915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗