Identification and functional characterization of a novel truncating splicing variant in COL4A5 gene causing X-linked Alport syndrome with astigmatism von Zhong Lijuan, Li, Yin, He, Xiaohong, Dey, Subrata Kumar, Zhang Quanfu, Banerjee Santasree

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Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia von Zheng, Yongjiang, Xu, Jiehua, Liang, Shengran, Lin, Dongjun, Banerjee, Santasree

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Editorial: Developmental delay and intellectual disability von Banerjee, Santasree, Munshi, Anjana, Li, Chen, Ayub, Muhammad

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Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa von Huang, Hui, Chen, Yanhua, Chen, Huishuang, Ma, Yuanyuan, Chiang, Pei-Wen, Zhong, Jing, Liu, Xuyang, Asan, Wu, Jing, Su, Yan, Li, Xin, Deng, Jianlian, Huang, Yingping, Zhang, Xinxin, Li, Yang, Fan, Ning, Wang, Ying, Tang, Lihui, Shen, Jinting, Chen, Meiyan, Zhang, Xiuqing, Te, Deng, Banerjee, Santasree, Liu, Hui, Qi, Ming, Yi, Xin

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KVarPredDB: a database for predicting pathogenicity of missense sequence variants of keratin genes associated with genodermatoses von Ying, Yuyi, Lu, Lu, Banerjee, Santasree, Xu, Lizhen, Zhao, Qiang, Wu, Hao, Li, Ruiqi, Xu, Xiao, Yu, Hua, Neculai, Dante, Xi, Yongmei, Yang, Fan, Qin, Jiale, Li, Chen

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Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chin... von An, Jinxia, Yang, Jie, Wang, Yan, Wang, Yanxia, Xu, Baicheng, Xie, Guangmei, Chai, Sanming, Liu, Xiaoling, Xu, Sijuan, Wen, Xiaoxiao, He, Qing, Liu, Huijun, Li, Chen, Dey, Subrata Kumar, Ni, Yali, Banerjee, Santasree

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Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastr... von Yang, Lin, Banerjee, Santasree, Cao, Jie, Bai, Xiaohong, Peng, Zhijun, Chen, Haixia, Huang, Hui, Han, Peng, Feng, Shunyu, Yi, Na, Song, Xueru, Wu, Jing

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A novel in‐frame deletion in KIF5C gene causes infantile onset epilepsy and psychomotor retardation von Banerjee, Santasree, Zhao, Qiang, Wang, Bo, Qin, Jiale, Yuan, Xin, Lou, Ziwei, Zheng, Weizeng, Li, Huanguo, Wang, Xiaojun, Cheng, Xiawei, Zhu, Yu, Lin, Fan, Yang, Fan, Xu, Junyu, Munshi, Anjana, Das, Parimal, Zhou, Yuanfeng, Mandal, Kausik, Wang, Yi, Ayub, Muhammad, Hirokawa, Nobutaka, Xi, Yongmei, Chen, Guangfu, Li, Chen

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An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis von Dai, Yi, Ma, Yaling, Li, Shengde, Banerjee, Santasree, Liang, Shengran, Liu, Qing, Yang, Yinchang, Peng, Bin, Cui, Liying, Jin, Liri

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Comparative analysis of clonal evolution among patients with right- and left-sided colon and rectal cancer von Banerjee, Santasree, Zhang, Xianxiang, Kuang, Shan, Wang, Jigang, Li, Lei, Fan, Guangyi, Luo, Yonglun, Sun, Shuai, Han, Peng, Wu, Qingyao, Yang, Shujian, Ji, Xiaobin, Li, Yong, Deng, Li, Tian, Xiaofen, Wang, Zhiwei, Zhang, Yue, Wu, Kui, Zhu, Shida, Bolund, Lars, Yang, Huanming, Xu, Xun, Liu, Junnian, Lu, Yun, Liu, Xin

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A comprehensive assessment of Next‐Generation Sequencing variants validation using a secondary technology von Zheng, Jianchao, Zhang, Hongyun, Banerjee, Santasree, Li, Yun, Zhou, Junyu, Yang, Qian, Tan, Xuemei, Han, Peng, Fu, Qinmei, Cui, Xiaoli, Yuan, Yuying, Zhang, Meiyan, Shen, Ruiqin, Song, Haifeng, Zhang, Xiuqing, Zhao, Lijian, Peng, Zhiyu, Wang, Wei, Yin, Ye

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Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in C... von Yang, Lin, Banerjee, Santasree, Cao, Jie, Bai, Xiaohong, Peng, Zhijun, Chen, Haixia, Huang, Hui, Han, Peng, Feng, Shunyu, Yi, Na, Song, Xueru, Wu, Jing

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Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population von Pan, Min, Cong, Peikuan, Wang, Yue, Lin, Changsong, Yuan, Ying, Dong, Jian, Banerjee, Santasree, Zhang, Tao, Chen, Yanling, Zhang, Ting, Chen, Mingqing, Hu, Peter, Zheng, Shu, Zhang, Jin, Qi, Ming

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The KCNB2 gene and its role in neurodevelopmental disorders: Implications for genetics and therapeutic advances von Mohamed, Zakaria Ahmed, Li, Jinghua, Wen, Jianping, Jia, Feiyong, Banerjee, Santasree

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Kallmann syndrome: Diagnostics and management von Kumar Yadav, Rajiv, Qi, Baiyu, Wen, Jianping, Gang, Xiaokun, Banerjee, Santasree

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SEPHS1 Gene: A new master key for neurodevelopmental disorders von Ahmed Mohamed, Zakaria, Yang, Jianli, Wen, Jianping, Jia, Feiyong, Banerjee, Santasree

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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy von Dai, Yi, Liang, Shengran, Dong, Xue, Zhao, Yanhuan, Ren, Haitao, Guan, Yuzhou, Yin, Haifang, Li, Chen, Chen, Lin, Cui, Liying, Banerjee, Santasree

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Whole exome sequencing identified a homozygous novel variant in CEP290 gene causes Meckel syndrome von Zhang, Rui, Chen, Shaoyun, Han, Peng, Chen, Fangfang, Kuang, Shan, Meng, Zhuo, Liu, Junnian, Sun, Ruliang, Wang, Zhiwei, He, Xiaohong, Li, Yong, Guan, Yuanning, Yue, Zhengfang, Li, Chen, Kumar Dey, Subrata, Zhu, Yuanfang, Banerjee, Santasree

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Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis von Han, Peng, Wei, Guohong, Cai, Ke, Xiang, Xi, Deng, Wang Ping, Li, Yan Bing, Kuang, Shan, Dong, Zhanying, Zheng, Tianyu, Luo, Yonglun, Liu, Junnian, Guan, Yuanning, Li, Chen, Dey, Subrata Kumar, Liao, Zhihong, Banerjee, Santasree

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Genetic Profiles and Three-year Follow-up Study of Chinese Males With Congenital Hypogonadotropic Hypogonadism von Zhang, Luyao, Gao, Yuting, Du, Qin, Liu, Liyi, Li, Yanbing, Dey, Subrata Kumar, Banerjee, Santasree, Liao, Zhihong

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