A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

by Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen
Published 2020-05-01

The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy

by Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen
Published 2020-12-01

Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture

by Niu Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, Yiping Shen, Lei Yin, Xiumin Wang, Jian Wang
Published 2019-11-01

Screening for familial APP mutations in sporadic cerebral amyloid angiopathy.

by Alessandro Biffi, Anna Plourde, Yiping Shen, Robert Onofrio, Eric E Smith, Matthew Frosch, Claudia M Prada, James Gusella, Steven M Greenberg, Jonathan Rosand
Published 2010-11-01

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

by Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen
Published 2017-10-01

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

by Zhaojing Zheng, Li Hong, Xiaodong Huang, Peirong Yang, Juan Li, Yu Ding, Ru-En Yao, Juan Geng, Yongnian Shen, Yiping Shen, Qihua Fu, Yongguo Yu
Published 2013-01-01

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement

by Jiasun Su, Weiliang Lu, Mengting Li, Qiang Zhang, Fei Chen, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Limei Huang, Yiping Shen, Jingsi Luo, Zailong Qin
Published 2021-04-01

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism

by Chunyun Fu, Haiyang Zheng, Shujie Zhang, Yun Chen, Jiasun Su, Jin Wang, Bobo Xie, Xuyun Hu, Xin Fan, Jingsi Luo, Chuan Li, Rongyu Chen, Yiping Shen, Shaoke Chen
Published 2016-02-01

Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

by Durkadin Demir Eksi, Yiping Shen, Munire Erman, Lynn P. Chorich, Megan E. Sullivan, Meric Bilekdemir, Elanur Yılmaz, Guven Luleci, Hyung-Goo Kim, Ozgul M. Alper, Lawrence C. Layman
Published 2018-02-01

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

by Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen
Published 2021-06-01

Genome analysis and knowledge-driven variant interpretation with TGex

by Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich
Published 2019-12-01

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome

by Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen
Published 2019-06-01

The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH

by Chunyun Fu, Shiyu Luo, Yingfeng Li, Qifei Li, Xuehua Hu, Mengting Li, Yue Zhang, Jiasun Su, Xuyun Hu, Yun Chen, Jin Wang, Bobo Xie, Jingsi Luo, Xin Fan, Shaoke Chen, Yiping Shen
Published 2017-11-01

Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gen...

by Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen
Published 2020-05-01

High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability.

by Xiaohong Gong, Yu-Wu Jiang, Xin Zhang, Yu An, Jun Zhang, Ye Wu, Jingmin Wang, Yangfei Sun, Yanyan Liu, Xuewu Gao, Yiping Shen, Xiru Wu, Zilong Qiu, Li Jin, Bai-Lin Wu, Hongyan Wang
Published 2012-01-01

Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia

by Haiou Yang, Lili Wang, Juan Geng, Tingting Yu, Ru-en Yao, Yongnian Shen, Lei Yin, Daming Ying, Rongkui Huang, Yunfang Zhou, Huijin Chen, Lanbo Liu, Xi Mo, Yiping Shen, Qihua Fu, Yongguo Yu
Published 2013-09-01

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

by Xin Fan, Bobo Xie, Jun Zou, Jingsi Luo, Zailong Qin, Alissa M. D'Gama, Jiahai Shi, Shang Yi, Qi Yang, Jin Wang, Shiyu Luo, Shaoke Chen, Pankaj B. Agrawal, Qifei Li, Yiping Shen
Published 2018-09-01

Detection of copy number variants reveals association of cilia genes with neural tube defects.

by Xiaoli Chen, Yiping Shen, Yonghui Gao, Huizhi Zhao, Xiaoming Sheng, Jizhen Zou, Va Lip, Hua Xie, Jin Guo, Hong Shao, Yihua Bao, Jianliang Shen, Bo Niu, James F Gusella, Bai-Lin Wu, Ting Zhang
Published 2013-01-01

Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients

by Niu Li, Yirou Wang, Yu Yang, Pengpeng Wang, Hui Huang, Shiyi Xiong, Luming Sun, Min Cheng, Cui Song, Xinran Cheng, Yu Ding, Guoying Chang, Yao Chen, Yufei Xu, Tingting Yu, Ru-en Yao, Yiping Shen, Xiumin Wang, Jian Wang
Published 2018-10-01

Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma

by Seçkin Akgül, Yinghua Li, Siyuan Zheng, Marcel Kool, Daniel M. Treisman, Chaoyang Li, Yuan Wang, Susanne Gröbner, Tsuneo Ikenoue, Yiping Shen, Sandra Camelo-Piragua, Gerald Tomasek, Sebastian Stark, Vinay Guduguntla, James F. Gusella, Kun-Liang Guan, Stefan M. Pfister, Roel G.W. Verhaak, Yuan Zhu
Published 2018-07-01