Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

by Kashork Catherine D, Pan Yanzhen, Bressler Jan, Liu Qian, Wauki Kekio, Jiang Yong-hui, Shaffer Lisa G, Beaudet Arthur L
Published 2008-01-01

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

by Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui, Zou Chao-Chun, PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS
Published 2022-06-01

Systematic reconstruction of autism biology from massive genetic mutation profiles

by Luo, Weijun, Zhang, Chaolin, Jiang, Yong-hui, Brouwer, Cory R.
Published 2018

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.

by Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K-G, Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C, Goldstein, David B, Undiagnosed Diseases Network
Published 2019

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

by Tan, Queenie K-G, Cope, Heidi, Spillmann, Rebecca C, Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T, Rothman, Jennifer A, Butler, Megan W, Frush, Donald P, Lachman, Ralph S, Lee, Brendan, Bacino, Carlos A, Bonner, Melanie J, McCall, Chad M, Pendse, Avani A, Walley, Nicole, Undiagnosed Diseases Network, Shashi, Vandana, Pena, Loren DM
Published 2018

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

by Du, Xiaonan, An, Yu, Yu, Lifei, Liu, Renchao, Qin, Yanrong, Guo, Xiaohong, Sun, Daokan, Zhou, Shuizhen, Wu, Bailin, Jiang, Yong-hui, Wang, Yi
Published 2014