1. Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation. Issue 14 (24th July 2019) Authors: Schultz, Chad R.; Bupp, Caleb P.; Rajasekaran, Surender; Bachmann, André S. Journal: Biochemical journal Issue: Volume 476:Issue 14(2019) Page Start: 2047 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 176A, Number 12, December 2018. Issue 12 (11th January 2019) Authors: Bupp, Caleb P.; Schultz, Chad R.; Uhl, Katie L.; Rajasekaran, Surender; Bachmann, André S. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features. Issue 12 (21st September 2018) Authors: Bupp, Caleb P.; Schultz, Chad R.; Uhl, Katie L.; Rajasekaran, Surender; Bachmann, André S. Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2548 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina. (24th June 2015) Authors: Bupp, Caleb P.; Sarasua, Sara M.; Dean, Jane H.; Stevenson, Roger E. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Valve-Sparing Aortic Root Replacement in a Patient With an FLNA Variant. Issue 6 (November 2022) Authors: Lobbestael, Adam J.; Bupp, Caleb P.; Haw, Marcus P. Journal: World journal for pediatric & congenital heart surgery Issue: Volume 13:Issue 6(2022) Page Start: 805 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Truncating mutations in LRP4 lead to a prenatal lethal form of Cenani–Lenz syndrome. Issue 9 (12th June 2014) Authors: Lindy, Amanda S.; Bupp, Caleb P.; McGee, Stephen J.; Steed, Erin; Stevenson, Roger E.; Basehore, Monica J.; Friez, Michael J. Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina. (24th June 2015) Authors: Bupp, Caleb P.; Sarasua, Sara M.; Dean, Jane H.; Stevenson, Roger E. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome. Issue 11 (3rd September 2021) Authors: VanSickle, Elizabeth A.; Michael, Julianne; Bachmann, André S.; Rajasekaran, Surender; Prokop, Jeremy W.; Kuzniecky, Ruben; Hofstede, Floris C.; Steindl, Katharina; Rauch, Anita; Lipson, Mark H.; Bupp, Caleb P. Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. N‐methyl‐d‐aspartate (NMDA) receptor genetics: The power of paralog homology and protein dynamics in defining dominant genetic variants. Issue 2 (2nd November 2021) Authors: Charron, Jacob G.; Hernandez, Angel; Bilinovich, Stephanie M.; Vogt, Daniel L.; Bedinger, Laura A.; Seaver, Laurie H.; Williams, Michael; Devries, Seth; Campbell, Daniel B.; Bupp, Caleb P.; Prokop, Jeremy W. Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗