1. A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review. Issue 6 (24th March 2021) Authors: Hu, Xiaolin; Ayala, Sofia Saenz; Dyer, Lisa; Guan, Qiaoning; Pena, Loren Journal: American journal of medical genetics Issue: Volume 185:Issue 6(2021) Page Start: 1864 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4, 000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. (October 2018) Authors: Hahn, Si Houn; Kronn, David; Leslie, Nancy; Pena, Loren; Tanpaiboon, Pranoot; Gambello, Michael; Gibson, James; Hillman, Richard; Stockton, David; Day, John; Wang, Raymond; An Haack, Kristina; Shafi, Raheel; Sparks, Susan; Zhao, Yang; Wilson, Catherine; Kishnani, Priya Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial. Issue 12 (December 2021) Authors: Diaz-Manera, Jordi; Kishnani, Priya S; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T; Berger, Kenneth I; Clemens, Paula R; Chien, Yin-Hsiu; Day, John W; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhou... Journal: Lancet neurology Issue: Volume 20:Issue 12(2021) Page Start: 1012 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Issue 6 (8th October 2019) Authors: McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Cope, Heidi; Spillmann, Rebecca; Palmer, Christina G.S.; Pena, Loren; Jiang, Yong‐Hui; Daniels, Nicole; Walley, Nicole; Tan, Khoon G.; Hooper, Stephen R.; Shashi, Vandana Journal: Clinical genetics Issue: Volume 96:Issue 6(2019) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗