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Author/Creator Place, Emily

1. A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. (3rd February 2020)

Authors:
Bronstein, Revital; Capowski, Elizabeth E; Mehrotra, Sudeep; Jansen, Alex D; Navarro-Gomez, Daniel; Maher, Mathew; Place, Emily; Sangermano, Riccardo; Bujakowska, Kinga M; Gamm, David M; Pierce, Eric A
Journal:
Human molecular genetics
Issue:
Volume 29:Number 6(2020)
Page Start:
967
Record Type:
Journal Article
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2. 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
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Available online (eLD content is only available in our Reading Rooms) ↗

4. 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) ↗