1. Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. (17th September 2013) Authors: Weh, E.; Reis, L.M.; Tyler, R.C.; Bick, D.; Rhead, W.J.; Wallace, S.; McGregor, T.L.; Dills, S.K.; Chao, M.‐C.; Murray, J.C.; Semina, E.V. Journal: Clinical genetics Issue: Volume 86:Number 2(2014:Aug.) Page Start: 142 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. (12th April 2014) Authors: Deml, B.; Reis, L.M.; Maheshwari, M.; Griffis, C.; Bick, D.; Semina, E.V. Journal: Clinical genetics Issue: Volume 86:Number 5(2014:Nov.) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗