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. BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer. Issue 2 (4th January 2017) Authors: Gass, Jennifer; Tatro, Madeline; Blackburn, Patrick; Hines, Stephanie; Atwal, Paldeep S. Journal: Clinical case reports Issue: Volume 5:Issue 2(2017) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Being Deceived: Information Asymmetry in Second‐Order False Belief Tasks. (10th August 2019) Authors: Braüner, Torben; Blackburn, Patrick; Polyanskaya, Irina Journal: Topics in cognitive science Issue: Volume 12:Number 2(2020) Page Start: 504 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing. Issue 6 (1st November 2016) Authors: Clift, Kristin; Guthrie, Kimberly; Klee, Eric W.; Boczek, Nicole; Cousin, Margot; Blackburn, Patrick; Atwal, Paldeep Journal: Prion Issue: Volume 10:Issue 6(2016) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Modeling the clarification potential of instructions: Predicting clarification requests and other reactions. (September 2017) Authors: Benotti, Luciana; Blackburn, Patrick Journal: Computer speech & language Issue: Volume 45(2017) Page Start: 536 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient. Issue 3 (March 2017) Authors: Gass, Jennifer; Blackburn, Patrick; Jackson, Jessica; Harris, Kimberly; Selcen, Duygu; Dimberg, Elliot; Atwal, Paldeep Journal: Journal of clinical neuromuscular disease Issue: Volume 18:Issue 3(2017:Mar.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗