1. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Issue 3 (11th January 2021) Authors: Jung, Roy; Lee, Yejin; Barker, Douglas; Correia, Kevin; Shin, Baehyun; Loupe, Jacob; Collins, Ryan L; Lucente, Diane; Ruliera, Jayla; Gillis, Tammy; Mysore, Jayalakshmi S; Rodan, Lance; Picker, Jonathan; Lee, Jong-Min; Howland, David; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E; Gusella, James F;... Journal: Human molecular genetics Issue: Volume 30:Issue 3/4(2021) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels. (6th February 2017) Authors: Shin, Aram; Shin, Baehyun; Shin, Jun Wan; Kim, Kyung-Hee; Atwal, Ranjit S.; Hope, Jennifer M.; Gillis, Tammy; Leszyk, John D.; Shaffer, Scott A.; Lee, Ramee; Kwak, Seung; MacDonald, Marcy E.; Gusella, James F.; Seong, Ihn Sik; Lee, Jong-Min Journal: Human molecular genetics Issue: Volume 26:Number 7(2017:Apr. 01) Page Start: 1258 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗