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Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia
Author: Fu, Jing-Xin; Wei, Qiao; Chen, Yu-Lan; Li, Hong-Fu
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 1, pp. 87-92. DOI: 10.1111/cge.14219
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Genetic overview of postaxial polydactyly: Updated classification
Author: Ahmad, Zaheer; Liaqat, Romana; Palander, Oliva; Bilal, Muhammad; Zeb, Shah; Ahmad, Farooq; Khan, Muhammad Jawad; Umair, Muhammad
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 1, pp. 3-15. DOI: 10.1111/cge.14224
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Novel rare mutation in a conserved site of PTPRB causes human hypoplastic left heart syndrome
Author: Jia, Yangying; Chen, Jianhai; Zhong, Jie; He, Xuefei; Zeng, Li; Wang, Yanmin; Li, Jiakun; Xia, Shengqian; Ye, Erdengqieqieke; Zhao, Jing; Ke, Bin; Li, Chunyu
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 1, pp. 79-86. DOI: 10.1111/cge.14234
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A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25
Author: Mahmood, Arif; Samad, Abdus; Shah, Abid Ali; Wadood, Abdul; Alkathiri, Afnan; Alshehri, Mohammed Ali; Alam, Mohammad Zubair; Hussain, Taimur; He, Pei; Umair, Muhammad
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 2, pp. 219-225. DOI: 10.1111/cge.14238
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Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing
Author: Wang, Wen-Juan; Xie, Jun-dan; Yao, Hong; Ding, Zi-xuan; Jiang, Ai-rui; Ma, Liang; Shen, Hong-jie; Chen, Su-ning
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 1, pp. 67-78. DOI: 10.1111/cge.14244
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Improving variant prioritization in exome analysis by entropy-weighted ensemble of multiple tools
Author: Fan, Yanjie; Zhou, Ying; Liu, Huili; Luo, Xiaomei; Xu, Ting; Sun, Yu; Yang, Tingting; Chen, Linlin; Gu, Xuefan; Yu, Yongguo
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 2, pp. 190-199. DOI: 10.1111/cge.14257
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The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome
Author: Che, Ruochen; Wang, Chunli; Huang, Songming; Zheng, Bixia; Li, Huixia; Cheng, Xueqin; Zhao, Fei; Ding, Guixia; Jia, Zhanjun; Zhang, Aihua
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 2, pp. 179-189. DOI: 10.1111/cge.14255
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Genetic screening in patients with ovarian dysfunction
Author: Zeng, Yang; Li, Lin; Li, Qingchun; Hu, Jijun; Zhang, Nana; Wu, Ling; Yan, Zheng; Qu, Ronggui; Dong, Jie; Liu, Ruyi; Choy, Kwong Wai; Wang, Lei; Sang, Qing; Guan, Yichun; Chen, Biaobang
Journal: CLINICAL GENETICS. 2023; Vol. 103, Issue 3, pp. 352-357. DOI: 10.1111/cge.14267
