1. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. Issue 12 (December 2018) Authors: Slone, Jesse; Peng, Yanyan; Chamberlin, Adam; Harris, Belinda; Kaylor, Julie; McDonald, Marie; Lemmon, Monica; El-Dairi, Mays; Tchapyjnikov, Dmitry; Gonzalez-Krellwitz, Laura; Sellars, Elizabeth; McConkie-Rosell, Allyn; Reinholdt, Laura; Huang, Taosheng Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutations in FDXR cause neurodegeneration associated with inflammation. Issue 12 (December 2018) Authors: Slone, Jesse; Peng, Yanyan; Chamberlin, Adam; Harris, Belinda; Kaylor, Julie; McDonald, Marie; Lemmon, Monica; El-Dairi, Mays; Tchapyjnikov, Dmitry; Gonzalez-Krellwitz, Laura; Sellars, Elizabeth; McConkie-Rosell, Allyn; Reinholdt, Laura; Huang, Taosheng Journal: Journal of human genetics Issue: Volume 63:Issue 12(2018) Page Start: 1211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017) Authors: Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So... Journal: Human molecular genetics Issue: Volume 26:Number 24(2017:Dec. 15) Page Start: 4937 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: Phenotypic expansion and review of the literature. Issue 8 (20th May 2014) Authors: Zarate, Yuri A.; Lepard, Tiffany; Sellars, Elizabeth; Kaylor, Julie A.; Alfaro, Maria P.; Sailey, Charles; Schaefer, G. Bradley; Collins, R. Thomas Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1998 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗