1. A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy. Issue 8 (3rd July 2019) Authors: Guo, Jun; Li, Zheng; Hao, Chanjuan; Guo, Ruolan; Hu, Xuyun; Qian, Suyun; Zeng, Jiansheng; Gao, Hengmiao; Li, Wei Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 8(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biological implications of genetic variations in autism spectrum disorders from genomics studies. Issue 7 (30th July 2021) Authors: Zhang, Yue; Liu, Xuanshi; Guo, Ruolan; Xu, Wenjian; Guo, Qi; Hao, Chanjuan; Ni, Xin; Li, Wei Journal: Bioscience reports Issue: Volume 41:Issue 7(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging. Issue 102 (May 2018) Authors: Kang, Huiying; Zhang, Miao; Ouyang, Minhui; Guo, Ruolan; Yu, Qinlin; Peng, Qinmu; Zhang, Ningning; Zhang, Yonghong; Duan, Yanlong; Tang, Xiaolu; Mishra, Virendra; Fang, Fang; Li, Wei; Huang, Hao; Peng, Yun Journal: European journal of radiology Issue: Issue 102(2018) Page Start: 22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia. Issue 11 (3rd September 2019) Authors: Li, Qirui; Guo, Ruolan; Gao, Lu; Cui, Lang; Zhao, Zhihui; Yu, Xia; Yuan, Yue; Xu, Xiwei Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 11(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Compound heterozygous variants in POR gene identified by whole‐exome sequencing in a Chinese pedigree with cytochrome P450 oxidoreductase deficiency. Issue 2 (16th July 2018) Authors: Hao, Chanjuan; Guo, Jun; Guo, Ruolan; Qi, Zhan; Li, Wei; Ni, Xin Journal: Pediatric investigation Issue: Volume 2:Issue 2(2018) Page Start: 90 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. Issue 6 (30th March 2016) Authors: Yang, Pu; Tan, Hu; Xia, Yan; Yu, Qian; Wei, Xianda; Guo, Ruolan; Peng, Ying; Chen, Chen; Li, Haoxian; Mei, Libin; Huang, Yanru; Liang, Desheng; Wu, Lingqian Journal: American journal of medical genetics Issue: Volume 170:Issue 6(2016) Page Start: 1613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease. Issue 1 (December 2015) Authors: Peng, Ying; Ma, Ruiyu; Zhou, Yingjie; Xia, Yan; Wen, Juan; Zhang, Yanghui; Guo, Ruolan; Li, Haoxian; Pan, Qian; Zhang, Rui; Tang, Chengyuan; Liang, Desheng; Wu, Lingqian Journal: Molecular cytogenetics Issue: Volume 8:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study. Issue 7 (16th May 2021) Authors: Hao, Chanjuan; Guo, Ruolan; Liu, Jun; Hu, Xuyun; Guo, Jun; Yao, Yao; Zhao, Zhipeng; Qi, Zhan; Yin, Jun; Chen, Lanqin; Wang, Hao; Xu, Baoping; Li, Wei Journal: Human mutation Issue: Volume 42:Issue 7(2021) Page Start: 891 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China. (January 2022) Authors: Hao, Chanjuan; Guo, Ruolan; Hu, Xuyun; Qi, Zhan; Guo, Qi; Liu, Xuanshi; Liu, Yuanhu; Sun, Yanhua; Zhang, Xiaofen; Jin, Feng; Wu, Xiujie; Cai, Ren; Zeng, Dingyuan; Hu, Xijiang; Wang, Xiaohua; Ji, Xiaoping; Li, Wenjie; Xing, Quansheng; Mu, Lanfang; Jiang, Xiulian Journal: Journal of genetics and genomics Issue: Volume 49:Number 1(2022) Page Start: 13 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART). (6th January 2020) Authors: Lv, Weigang; Wei, Xianda; Guo, Ruolan; Liu, Qin; Zheng, Yu; Chang, Jiazhen; Bai, Ting; Li, Haoxian; Zhang, Jianguang; Song, Zhuo; Cram, David S; Liang, Desheng; Wu, Lingqian Journal: Clinical chemistry Issue: Volume 61:Number 1(2015) Page Start: 172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗