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. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Liquid biopsy detection of tumor shed in cancers for which molecular profiling is best practice. Issue 28 (1st October 2022) Authors: Kasi, Pashtoon Murtaza; Weipert, Caroline; Kaylor, Julie Journal: Journal of clinical oncology Issue: Volume 40:Issue 28(2022)Supplement Page Start: 412 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018) Authors: Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow... Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 925 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases. Issue 8 (5th June 2016) Authors: Zarate, Yuri A.; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 1967 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. Issue 10 (17th August 2017) Authors: Helm, Benjamin M.; Powis, Zoe; Prada, Carlos E.; Casasbuenas‐Alarcon, Olga L.; Balmakund, Tonya; Schaefer, G. B.; Kahler, Stephen G.; Kaylor, Julie; Winter, Susan; Zarate, Yuri A.; Schrier Vergano, Samantha A. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Utilization of genetic testing: Analysis of 4, 499 prior authorization requests for molecular genetic tests at four US regional health plans. Issue 3 (23rd December 2021) Authors: Bajguz, Dominika; Danylchuk, Noelle R.; Czarniecki, Megan; Selig, James P.; Sutphen, Rebecca; Kaylor, Julie Journal: Journal of genetic counseling Issue: Volume 31:Issue 3(2022) Page Start: 771 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗