Identification of genetic associations of SP110/MYBBP1A/RELA with pulmonary tuberculosis in the Chinese Han population - Lei Cai; Shao-Li Deng; Li Liang; Hui Pan; Jia Zhou; Mei-Yan Wang; Jun Yue; Chun-Ling Wan; Guang He; Lin He (Human Genetics, 2013)

Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II - Hua Zhang; Hongsheng Chen; Hunjin Luo; Jing An; Lin Sun; Lingyun Mei; Chufeng He; Lu Jiang; Wen Jiang; Kun Xia; Jia-Da Li; Yong Feng (Human Genetics, 2012)

The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression - Chih-Hsin Lin; Chiung-Mei Chen; Yi-Ting Hou; Yih-Ru Wu; Hsiu-Mei Hsieh-Li; Ming-Tsan Su; Guey-Jen Lee-Chen (Human Genetics, 2010)

Erratum to: Novel mutations in the connexin43 (GJA1) and GJA1 pseudogene may contribute to nonsyndromic hearing loss - Hui-Mei Hong; Jiann-Jou Yang; Jia-Ching Shieh; Mei-Ling Lin; Shuan-Yow Li (Human Genetics, 2010)

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31 - Xue-Zhong Liu; Yongyi Yuan; Denise Yan; Emilie Hong Ding; Xiao Mei Ouyang; Yu Fei; Wenxue Tang; Huijun Yuan; Qing Chang; Li Lin Du; Xin Zhang; Guojian Wang; et al. (Human Genetics, 2009)

Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci - Shu-Feng Lei; Tie-Lin Yang; Li-Jun Tan; Xiang-Ding Chen; Yan Guo; Yan-Fang Guo; Liang Zhang; Xiao-Gang Liu; Han Yan; Feng Pan; Zhi-Xin Zhang; Yu-Mei Peng; et al. (Human Genetics, 2009)

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population - Xiao Mei Ouyang; Denise Yan; Li Lin Du; J. Fielding. Hejtmancik; Samuel G. Jacobson; Walter E. Nance; An Ren Li; Simon Angeli; Muriel Kaiser; Valerie Newton; Steve D. M. Brown; Thomas Balkany; et al. (Human Genetics, 2005)

Evidence of a founder effect for the 235delC mutation of GJB2 (connexin26) in east Asians - Denise Yan; Hong-Joon Park; Xiao Mei Ouyang; Arti Pandya; Katsumi Doi; Raadnabazar Erdenetungalag; Li Lin Du; Naoki Matsushiro; Walter E. Nance; Andrew J. Griffith; Xue Zhong Liu (Human Genetics, 2003)