1. Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1. Issue 1 (December 2018) Authors: Johnson, Tyler; Mechels, Keegan; Anderson, Ruth; Cain, Jacob; Sturdevant, David; Braddock, Stephen; Pinz, Hailey; Wilson, Mark; Landsverk, Megan; Roux, Kyle; Weimer, Jill Journal: Scientific reports Issue: Volume 8:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and laboratory interpretation of mitochondrial mRNA variants. Issue 10 (22nd July 2020) Authors: Wong, Lee‐Jun C.; Chen, Ting; Schmitt, Eric S.; Wang, Jing; Tang, Sha; Landsverk, Megan; Li, Fangyuan; Zhang, Shulin; Wang, Yue; Zhang, Victor W.; Craigen, William J. Journal: Human mutation Issue: Volume 41:Issue 10(2020) Page Start: 1783 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing. Issue 3 (March 2015) Authors: Yang, Yaping; Muzny, Donna M.; Xia, Fan; Niu, Zhiyv; Person, Richard; Ding, Yan; Ward, Patricia; Braxton, Alicia; Wang, Min; Buhay, Christian; Veeraraghavan, Narayanan; Hawes, Alicia; Chiang, Theodore; Leduc, Magalie; Beuten, Joke; Zhang, Jing; He, Weimin; Scull, Jennifer; Willis, Alecia; Landsve... Journal: Obstetrical & gynecological survey Issue: Volume 70:Issue 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. Issue 5 (29th March 2017) Authors: Cain, Jacob T.; Kim, Dae I.; Quast, Megan; Shivega, Winnie G.; Patrick, Ryan J.; Moser, Chuanpit; Reuter, Suzanne; Perez, Myrza; Myers, Angela; Weimer, Jill M.; Roux, Kyle J.; Landsverk, Megan Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects. Issue 6 (2nd April 2013) Authors: Tang, Sha; Wang, Jing; Zhang, Victor Wei; Li, Fang‐Yuan; Landsverk, Megan; Cui, Hong; Truong, Cavatina K.; Wang, Guoli; Chen, Li Chieh; Graham, Brett; Scaglia, Fernando; Schmitt, Eric S.; Craigen, William J.; Wong, Lee‐Jun C. Journal: Human mutation Issue: Volume 34:Issue 6(2013:Jun.) Page Start: 882 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗