1. A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. Issue 5 (3rd May 2016) Authors: Falk, Marni J.; Gai, Xiaowu; Shigematsu, Megumi; Vilardo, Elisa; Takase, Ryuichi; McCormick, Elizabeth; Christian, Thomas; Place, Emily; Pierce, Eric A.; Consugar, Mark; Gamper, Howard B.; Rossmanith, Walter; Hou, Ya-Ming Journal: RNA biology Issue: Volume 13:Issue 5(2016) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. (18th June 2018) Authors: Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth; Juanola-Falgarona, Marti; Gai, Xiaowu; Li, Dong; Jalas, Chaim; Hirsch, Yoel; Emmanuele, Valentina; Tadesse, Saba; Ziosi, Marcello; Akman, Hasan O; Chung, Wendy K; Tanji, Kurenai; McCormick, Elizabeth M; Place, Emily; Consugar, Mark; Pierce,... Journal: Human molecular genetics Issue: Volume 27:Number 19(2018:Oct. 01) Page Start: 3305 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy. (October 2017) Authors: Ung, Cindy; Sanchez, Angie V.; Shen, Lishuang; Davoudi, Samaneh; Ahmadi, Tina; Navarro-Gomez, Daniel; Chen, Ching J.; Hancock, Heather; Penman, Alan; Hoadley, Suzanne; Consugar, Mark; Restrepo, Carlos; Shah, Vinay A.; Arboleda-Velasquez, Joseph F.; Sobrin, Lucia; Gai, Xiaowu; Kim, Leo A. Journal: Vision research Issue: Volume 139(2017) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗