1. ACSS3 in brown fat drives propionate catabolism and its deficiency leads to autophagy and systemic metabolic dysfunction. Issue 2 (20th February 2022) Authors: Jia, Zhihao; Chen, Xiyue; Chen, Jingjuan; Zhang, Lijia; Oprescu, Stephanie N.; Luo, Nanjian; Xiong, Yan; Yue, Feng; Kuang, Shihuan Journal: Clinical and translational medicine Issue: Volume 12:Issue 2(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chemically-defined generation of human hemogenic endothelium and definitive hematopoietic progenitor cells. (June 2022) Authors: Chang, Yun; Syahirah, Ramizah; Oprescu, Stephanie N.; Wang, Xuepeng; Jung, Juhyung; Cooper, Scott H.; Torregrosa-Allen, Sandra; Elzey, Bennett D.; Hsu, Alan Y.; Randolph, Lauren N.; Sun, Yufei; Kuang, Shihuan; Broxmeyer, Hal E.; Deng, Qing; Lian, Xiaojun; Bao, Xiaoping Journal: Biomaterials Issue: Volume 285(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Compound heterozygosity for loss‐of‐function FARSB variants in a patient with classic features of recessive aminoacyl‐tRNA synthetase‐related disease. Issue 6 (10th April 2018) Authors: Antonellis, Anthony; Oprescu, Stephanie N.; Griffin, Laurie B.; Heider, Amer; Amalfitano, Andrea; Innis, Jeffrey W. Journal: Human mutation Issue: Volume 39:Issue 6(2018) Page Start: 834 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Compound heterozygosity for loss‐of‐function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation. Issue 10 (14th July 2017) Authors: Oprescu, Stephanie N.; Chepa‐Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C.; Adams, David R.; Toro, Camilo; Gropman, Andrea L.; Hou, Ya‐Ming; Malicdan, May Christine V.; Gahl, William A.; Tifft, Cynthia J.; Antonellis, Anthony Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: 1412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 38, Issue 10. Issue 10 (14th September 2017) Authors: Oprescu, Stephanie N.; Chepa‐Lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C.; Adams, David R.; Toro, Camilo; Gropman, Andrea L.; Hou, Ya‐Ming; Malicdan, May Christine V.; Gahl, William A.; Tifft, Cynthia J.; Antonellis, Anthony Journal: Human mutation Issue: Volume 38:Issue 10(2017) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Cover Image, Volume 39, Issue 3. Issue 3 (8th February 2018) Authors: Abbott, Jamie A.; Meyer‐Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel‐Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinós, Carmen... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. LETMD1 is required for mitochondrial structure and thermogenic function of brown adipocytes. Issue 11 (20th October 2021) Authors: Snyder, Madigan M.; Yue, Feng; Zhang, Lijia; Shang, Renjie; Qiu, Jiamin; Chen, Jingjuan; Kim, Kun Ho; Peng, Ying; Oprescu, Stephanie N.; Donkin, Shawn S.; Bi, Pengpeng; Kuang, Shihuan Journal: FASEB journal Issue: Volume 35:Issue 11(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy. Issue 3 (26th December 2017) Authors: Abbott, Jamie A.; Meyer‐Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N.; Griffin, Laurie B.; Alberti, M. Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel‐Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E.; Espinós, Carmen... Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗