1. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome. Issue 4 (16th June 2015) Authors: Kerr, E. N.; Bhan, A.; Héon, E. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration. Issue 3 (17th July 2018) Authors: Moran, J.; G. Sanderson, K.; Maynes, J.; Vig, A.; Batmanabane, V.; Kannu, P.; Tavares, E.; Vincent, A.; Héon, E. Journal: Clinical genetics Issue: Volume 94:Issue 3/4(2018) Page Start: 368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Liver anomalies as a phenotype parameter of Bardet–Biedl syndrome. Issue 4 (24th November 2015) Authors: Branfield Day, L.; Quammie, C.; Héon, E.; Bhan, A.; Batmanabane, V.; Dai, T.; Kamath, B.M. Journal: Clinical genetics Issue: Volume 89:Issue 4(2016) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome. Issue 1 (16th January 2017) Authors: Kletke, S.; Batmanabane, V.; Dai, T.; Vincent, A.; Li, S.; Gordon, K.A.; Papsin, B.C.; Cushing, S.L.; Héon, E. Journal: Clinical genetics Issue: Volume 92:Issue 1(2017) Page Start: 26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗