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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Issue 1 (December 2018) Authors: Buskin, Adriana; Zhu, Lili; Chichagova, Valeria; Basu, Basudha; Mozaffari-Jovin, Sina; Dolan, David; Droop, Alastair; Collin, Joseph; Bronstein, Revital; Mehrotra, Sudeep; Farkas, Michael; Hilgen, Gerrit; White, Kathryn; Pan, Kuan-Ting; Treumann, Achim; Hallam, Dean; Bialas, Katarzyna; Chung, Git... Journal: Nature communications Issue: Volume 9:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗