1. Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism. Issue 5 (12th May 2016) Authors: Fu, Chunyun; Xie, Bobo; Zhang, Shujie; Wang, Jin; Luo, Shiyu; Zheng, Haiyang; Su, Jiasun; Hu, Xuyun; Chen, Rongyu; Fan, Xin; Luo, Jingsi; Gu, Xuefan; Chen, Shaoke Journal: BMJ open Issue: Volume 6:Issue 5(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement. Issue 4 (16th March 2021) Authors: Su, Jiasun; Lu, Weiliang; Li, Mengting; Zhang, Qiang; Chen, Fei; Yi, Shang; Yang, Qi; Yi, Sheng; Zhou, Xunzhao; Huang, Limei; Shen, Yiping; Luo, Jingsi; Qin, Zailong Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 4(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene‐disease relationship. Issue 5 (11th March 2020) Authors: Lu, Weiliang; Liang, Mingxing; Su, Jiasun; Wang, Jin; Li, Lingxiao; Zhang, Shujie; Qin, Zailong; Huang, Limei; Lu, Yingchi; Yi, Shang; Yi, Sheng; Xie, BoBo; Zheng, Haiyang; Luo, Jingsi; Gao, Xiaoyan; Shen, Yiping Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 5(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Study on the correlation between the ultrasound phenotype and copy number variation of abnormal embryo in spontaneous abortion. Issue 11 (27th September 2021) Authors: Tan, Shuyin; Pan, Pingshan; Yang, Zuojian; Su, Jiasun; Wei, Hongwei Journal: Journal of obstetrics and gynaecology research Issue: Volume 47:Issue 11(2021) Page Start: 3779 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The application of expanded noninvasive prenatal screening for genome-wide chromosomal abnormalities and genetic counseling. (18th August 2021) Authors: Chen, Yun; Lai, Yunli; Xu, Fuben; Qin, Haisong; Tang, Yanqing; Huang, Xiaoshan; Meng, Lintao; Su, Jiasun; Sun, Weijia; Shen, Yiping; Wei, Hongwei Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 34:Number 16(2021) Page Start: 2710 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The incidence of congenital hypothyroidism (CH) in Guangxi, China and the predictors of permanent and transient CH. Issue 8 (November 2017) Authors: Fu, Chunyun; Luo, Shiyu; Li, Yingfeng; Li, Qifei; Hu, Xuehua; Li, Mengting; Zhang, Yue; Su, Jiasun; Hu, Xuyun; Chen, Yun; Wang, Jin; Xie, Bobo; Luo, Jingsi; Fan, Xin; Chen, Shaoke; Shen, Yiping Journal: Endocrine connections Issue: Volume 6:Issue 8(2017) Page Start: 926 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism. (5th March 2016) Authors: Hu, Xuyun; Chen, Rongyu; Fu, Chunyun; Fan, Xin; Wang, Jin; Qian, Jiale; Yi, Shang; Li, Chuan; Luo, Jingsi; Su, Jiasun; Zhang, Shujie; Xie, Bobo; Zheng, Haiyang; Lai, Yunli; Chen, Yun; Li, Hongdou; Gu, Xuefan; Chen, Shaoke; Shen, Yiping Journal: Molecular and cellular endocrinology Issue: Volume 423(2016) Page Start: 60 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗