1. A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. Issue 6 (12th May 2021) Authors: Yi, Sheng; Zhang, Yue; Qin, Zailong; Yi, Shang; Zheng, Haiyang; Luo, Jingsi; Li, Qifei; Wang, Jin; Yang, Qi; Li, Mengting; Chen, Fei; Zhang, Qiang; Zhang, Qinle; Shen, Yiping Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 6(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability. Issue 2 (March 2020) Authors: Yi, Sheng; Yang, Qi; Zuo, Yangjin; Li, Mengting; Luo, Jingsi; Qin, Zailong; Zhang, Qinle; Li, Meng; Huang, Limei; Lu, Yingchi; Feng, Shihan; Fan, Xin Journal: Blood coagulation and fibrinolysis Issue: Volume 31:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals. Issue 8 (December 2020) Authors: Yi, Sheng; Zuo, Yangjin; Yu, Qiuxia; Yang, Qi; Li, Mengting; Lan, Yueyun; Huang, Limei; Zhang, Qinle; Qin, Zailong; Luo, Jingsi Journal: Blood coagulation and fibrinolysis Issue: Volume 31:Issue 8(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study. Issue 5 (1st March 2022) Authors: Sun, Yu; Peng, Jing; Liang, Desheng; Ye, Xiantao; Xu, Na; Chen, Linlin; Yan, Dan; Zhang, Huiwen; Xiao, Bing; Qiu, Wenjuan; Shen, Yiping; Pang, Nan; Liu, Yingdi; Liang, Chen; Qin, Zailong; Luo, Jingsi; Chen, Fei; Wang, Jingmin; Zhang, Zhixin; Wei, Haiyan Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 568 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. Novel Synonymous and Frameshift Variants in the TRIP12 Gene Identified in 2 Chinese Patients With Intellectual Disability. (20th December 2022) Authors: Yi, Sheng; Chen, Fei; Qin, Zailong; Yi, Shang; Huang, Limei; Huang, Leini; Feng, Ying; Wei, Hao; Yang, Qi; Zhang, Qinle; Luo, Jingsi Journal: Neurology Issue: Volume 8:Number 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi. (5th September 2022) Authors: Zhou, Chaofan; He, Sheng; Liu, Dun; Zuo, Yangjin; Chen, Qiuli; Wang, Liang; Chen, Biyan; Chen, Faqin; Luo, Jingsi; Xu, Xiangmin; Lin, Li Journal: International journal of laboratory hematology Issue: Volume 45:Number 1(2023) Page Start: 104 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗