Browsing by Author "Place, Emily"

Now showing items 1-3 of 3

    • Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa 

      Bujakowska, Kinga M.; White, Joseph; Place, Emily; Consugar, Mark; Comander, Jason (Public Library of Science, 2015)
      Background: Next generation sequencing (NGS) offers a rapid and comprehensive method of screening for mutations associated with retinitis pigmentosa and related disorders. However, certain sequence alterations such as large ...

    • NMNAT1 Mutations Cause Leber Congenital Amaurosis 

      Falk, Marni J; Nakamaru-Ogiso, Eiko; Kannabiran, Chitra; Chakarova, Christina; Audo, Isabelle; Mackay, Donna S; Zeitz, Christina; Borman, Arundhati Dev; Shukla, Rachna; Palavalli, Lakshmi; Mohand-Said, Saddek; Waseem, Naushin H; Jalali, Subhadra; Perin, Juan C; Ostrovsky, Julian; Xiao, Rui; Bhattacharya, Shomi S; Webster, Andrew R; Sahel, José-Alain; Moore, Anthony T; Gai, Xiaowu; Zhang, Qi; Kelly, Zoe; Staniszewska, Magdalena; Place, Emily Margaret; Consugar, Mark Bryant; Berson, Eliot Lawrence; Liu, Qin; Pierce, Eric Adam (Nature Publishing Group, 2012)
      Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss. Two-thirds of LCA cases are caused by mutations in 17 known disease genes (RetNet Retinal ...

    • Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing 

      Consugar, Mark B.; Navarro-Gomez, Daniel; Place, Emily M.; Bujakowska, Kinga M.; Sousa, Maria E.; Fonseca-Kelly, Zoë D.; Taub, Daniel G.; Janessian, Maria; Wang, Dan Yi; Au, Elizabeth D.; Sims, Katherine B.; Sweetser, David A.; Fulton, Anne B.; Liu, Qin; Wiggs, Janey L.; Gai, Xiaowu; Pierce, Eric A. (2015)
      Purpose Next-generation sequencing (NGS) based methods are being adopted broadly for genetic diagnostic testing, but the performance characteristics of these techniques have not been fully defined with regard to test ...