1. Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia. (January 2019) Authors: Salani, Monica; Urbina, Fabio; Brenner, Anthony; Morini, Elisabetta; Shetty, Ranjit; Gallagher, C. Scott; Law, Emily A.; Sunshine, Sara; Finneran, Dylan J.; Johnson, Graham; Minor, Lisa; Slaugenhaupt, Susan A. Journal: SLAS discovery Issue: Volume 24:Number 1(2019) Page Start: 57 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage. (July 2022) Authors: Morini, Elisabetta; Gao, Dadi; Logan, Emily M.; Salani, Monica; Krauson, Aram J.; Chekuri, Anil; Chen, Yei-Tsung; Ragavendran, Ashok; Chakravarty, Probir; Erdin, Serkan; Stortchevoi, Alexei; Svejstrup, Jesper Q.; Talkowski, Michael E.; Slaugenhaupt, Susan A. Journal: Journal of genetics and genomics Issue: Volume 49:Number 7(2022) Page Start: 654 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Familial Clustering of Mitral Valve Prolapse in the Community. Issue 3 (20th January 2015) Authors: Delling, Francesca N.; Rong, Jian; Larson, Martin G.; Lehman, Birgitta; Osypiuk, Ewa; Stantchev, Plamen; Slaugenhaupt, Susan A.; Benjamin, Emelia J.; Levine, Robert A.; Vasan, Ramachandran S. Journal: Circulation Issue: Volume 131:Issue 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Familial dysautonomia: History, genotype, phenotype and translational research. (May 2017) Authors: Norcliffe-Kaufmann, Lucy; Slaugenhaupt, Susan A.; Kaufmann, Horacio Journal: Progress in neurobiology Issue: Volume 152(2017:May) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Response to Letter Regarding Article, "Familial Clustering of Mitral Valve Prolapse in the Community". Issue 14 (6th October 2015) Authors: Delling, Francesca N.; Rong, Jian; Larson, Martin G.; Lehman, Birgitta; Osypiuk, Ewa; Stantchev, Plamen; Slaugenhaupt, Susan A.; Benjamin, Emelia J.; Levine, Robert A.; Vasan, Ramachandran S. Journal: Circulation Issue: Volume 132:Issue 14(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Response to Letter Regarding Article, "Familial Clustering of Mitral Valve Prolapse in the Community". Issue 14 (6th October 2015) Authors: Delling, Francesca N.; Rong, Jian; Larson, Martin G.; Lehman, Birgitta; Osypiuk, Ewa; Stantchev, Plamen; Slaugenhaupt, Susan A.; Benjamin, Emelia J.; Levine, Robert A.; Vasan, Ramachandran S. Journal: Circulation Issue: Volume 132:Issue 14(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation. Issue 2 (4th January 2018) Authors: Gómez, Néstor Más; Lu, Wennan; Lim, Jason C.; Kiselyov, Kirill; Campagno, Keith E.; Grishchuk, Yulia; Slaugenhaupt, Susan A.; Pfeffer, Bruce A.; Fliesler, Steven J.; Mitchell, Claire H. Journal: FASEB journal Issue: Volume 32:Issue 2(2018) Page Start: 782 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Small Molecules for Early Endosome-Specific Patch Clamping. Issue 7 (20th July 2017) Authors: Chen, Cheng-Chang; Butz, Elisabeth S.; Chao, Yu-Kai; Grishchuk, Yulia; Becker, Lars; Heller, Stefan; Slaugenhaupt, Susan A.; Biel, Martin; Wahl-Schott, Christian; Grimm, Christian Journal: Cell chemical biology Issue: Volume 24:Issue 7(2017) Page Start: 907 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗