1. Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care. Issue 2 (5th August 2022) Authors: Armstrong, Niki; Schrader, Rachel; Fischer, Ryan; Crossnohere, Norah Other Names: Brower Amy guestEditor.; Chan Kee guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 2(2022) Page Start: 162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia. Issue 3 (25th November 2019) Authors: Gu, Shen; Chen, Chun‐An; Rosenfeld, Jill A.; Cope, Heidi; Launay, Nathalie; Flanigan, Kevin M.; Waldrop, Megan A.; Schrader, Rachel; Juusola, Jane; Goker‐Alpan, Ozlem; Milunsky, Aubrey; Schlüter, Agatha; Troncoso, Mónica; Pujol, Aurora; Tan, Queenie K.‐G.; Schaaf, Christian P.; Meng, Linyan Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 632 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗