1. A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. Issue 5 (3rd May 2016) Authors: Falk, Marni J.; Gai, Xiaowu; Shigematsu, Megumi; Vilardo, Elisa; Takase, Ryuichi; McCormick, Elizabeth; Christian, Thomas; Place, Emily; Pierce, Eric A.; Consugar, Mark; Gamper, Howard B.; Rossmanith, Walter; Hou, Ya-Ming Journal: RNA biology Issue: Volume 13:Issue 5(2016) Page Start: 477 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterizing variants of unknown significance in rhodopsin: A functional genomics approach. Issue 8 (22nd June 2019) Authors: Wan, Aliete; Place, Emily; Pierce, Eric A.; Comander, Jason Journal: Human mutation Issue: Volume 40:Issue 8(2019) Page Start: 1127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Course of Ocular Function in PRPF31 Retinitis Pigmentosa. (3rd March 2016) Authors: Hafler, Brian P.; Comander, Jason; Weigel DiFranco, Carol; Place, Emily M.; Pierce, Eric A. Journal: Seminars in ophthalmology Issue: Volume 31:Number 1/2(2016) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CRB1: One Gene, Many Phenotypes*. (September 2013) Authors: Ehrenberg, Miriam; Pierce, Eric A.; Cox, Gerald F.; Fulton, Anne B. Journal: Seminars in ophthalmology Issue: Volume 28:Number 5/6(2013) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Gene editing technology: Towards precision medicine in inherited retinal diseases. (19th May 2021) Authors: Ballios, Brian G.; Pierce, Eric A.; Huckfeldt, Rachel M. Journal: Seminars in ophthalmology Issue: Volume 36:Number 4(2021) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. (4th May 2022) Authors: Catomeris, Andrew J.; Ballios, Brian G.; Sangermano, Riccardo; Wagner, Naomi E.; Comander, Jason I.; Pierce, Eric A.; Place, Emily M.; Bujakowska, Kinga M.; Huckfeldt, Rachel M. Journal: Ophthalmic genetics Issue: Volume 43:Number 3(2022) Page Start: 332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Systemic Diseases Associated with Retinal Dystrophies. (26th September 2014) Authors: Werdich, Xiang Q.; Place, Emily M.; Pierce, Eric A. Journal: Seminars in ophthalmology Issue: Volume 29:Number 5/6(2014) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Systemic Diseases Associated with Retinal Dystrophies. (November 2014) Authors: Werdich, Xiang Q.; Place, Emily M.; Pierce, Eric A. Journal: Seminars in ophthalmology Issue: Volume 29:Number 5/6(2014) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy. Issue 2 (9th November 2020) Authors: Solaguren‐Beascoa, Maria; Bujakowska, Kinga M.; Méjécase, Cécile; Emmenegger, Lisa; Orhan, Elise; Neuillé, Marion; Mohand‐Saïd, Saddek; Condroyer, Christel; Lancelot, Marie‐Elise; Michiels, Christelle; Demontant, Vanessa; Antonio, Aline; Letexier, Mélanie; Saraiva, Jean‐Paul; Lonjou, Christine; C... Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗