1. A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. Issue 1 (December 2016) Authors: Blackburn, Patrick; Zimmermann, Michael; Gass, Jennifer; Harris, Kimberly; Cousin, Margot; Boczek, Nicole; Ross, Owen; Klee, Eric; Brazis, Paul; Van Gerpen, Jay; Atwal, Paldeep Journal: BMC medical genetics Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018) Authors: Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. (December 2018) Authors: Boczek, Nicole; Hopp, Katharina; Benoit, Lacey; Kraft, Daniel; Cousin, Margot; Blackburn, Patrick; Madsen, Charles; Oliver, Gavin; Nair, Asha; Na, Jie; Bianchi, Diana; Beek, Geoffrey; Harris, Peter; Pichurin, Pavel; Klee, Eric Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and Biochemical Phenotypes in a Family With ENPP1 Mutations. (16th January 2020) Authors: Kotwal, Anupam; Ferrer, Alejandro; Kumar, Rajiv; Singh, Ravinder J; Murthy, Vishakantha; Schultz‐Rogers, Laura; Zimmermann, Michael; Lanpher, Brendan; Zimmerman, Kristin; Stabach, Paul R; Klee, Eric; Braddock, Demetrios T; Wermers, Robert A Journal: Journal of bone and mineral research Issue: Volume 35:Number 4(2020) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impact of RNA degradation on fusion detection by RNA-seq. (December 2016) Authors: Davila, Jaime; Fadra, Numrah; Wang, Xiaoke; McDonald, Amber; Nair, Asha; Crusan, Barbara,; Wu, Xianglin; Blommel, Joseph; Jen, Jin; Rumilla, Kandelaria; Jenkins, Robert; Aypar, Umut; Klee, Eric; Kipp, Benjamin; Halling, Kevin Journal: BMC genomics Issue: Volume 17:Number 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. PATH-26. NEURO-ONCOLOGY NEXT-GENERATION SEQUENCING 219-GENE PANEL FOR COMPREHENSIVE CLINICAL TESTING. (5th November 2018) Authors: Ida, Cristiane; Barr Fritcher, Emily; Zysk, Christopher; Voss, Jesse; Wu, Xianglin; Balan, Jagadheshwar; Kollmeyer, Thomas; Raghunathan, Aditya; Giannini, Caterina; Klee, Eric; Kipp, Benjamin; Jenkins, Robert Journal: Neuro-oncology Issue: Volume 20(2018)Supplement 6 Page Start: vi164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Proceedings of the 15th Annual UT-KBRIN Bioinformatics Summit 2016. Issue 10 (August 2016) Authors: Rouchka, Eric; Chariker, Julia; Harrison, Benjamin; Park, Juw; Cao, Xueyuan; Pounds, Stanley; Raimondi, Susana; Downing, James; Ribeiro, Raul; Rubnitz, Jeffery; Lamba, Jatinder; Daigle, Bernie; Burgess, Deborah; Gehrlich, Stephanie; Carmen, John; Johnson, Nicholas; Emani, Chandrakanth; Gehrlich, ... Journal: BMC bioinformatics Issue: Volume 17:Issue 10(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. TMOD-18. THE PATIENT DERIVED XENOGRAFT NATIONAL RESOURCE: A COMPREHENSIVE COLLECTION OF HIGH-GRADE GLIOMA MODELS FOR PRE-CLINICAL AND TRANSLATIONAL STUDIES. (5th November 2018) Authors: Vaubel, Rachael; Tian, Shulan; Remonde, Dioval; Schroeder, Mark; Kollmeyer, Thomas; Peng, Sen; Mladek, Ann; Carlson, Brett; Ma, Daniel; Kitange, Gaspar; Evers, Lisa; Decker, Paul; Kosel, Matthew; Berens, Michael; Klee, Eric; Califano, Andrea; James, C David; Lachance, Daniel; Eckel-Passow, Jeanet... Journal: Neuro-oncology Issue: Volume 20(2018)Supplement 6 Page Start: vi272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗