Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios von Shi, Xiaomei, Ding, Hongke, Li, Chen, Liu, Ling, Yu, LiHua, Zhu, Juan, Wu, Jing

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Prenatal genetic diagnosis of omphalocele by karyotyping, chromosomal microarray analysis and exome sequencing von Shi, Xiaomei, Tang, Hui, Lu, Jian, Yang, Xiue, Ding, Hongke, Wu, Jing

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A spectrum of clinical severity of recessive titinopathies in prenatal von Qi, Yiming, Ji, Xueqi, Ding, Hongke, Wang, Yunan, Liu, Xin, Zhang, Yan, Yin, Aihua

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study von Huang, Yanlin, Liu, Chang, Ding, Hongke, Wang, Yunan, Yu, Lihua, Guo, Fangfang, Li, Fake, Shi, Xiaomei, Zhang, Yan, Yin, Aihua

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Characterization of a wheat stable QTL for spike length and its genetic effects on yield-related traits von Ding, Hongke, Wang, Chenyang, Cai, Yibiao, Yu, Kai, Zhao, Haibo, Wang, Faxiang, Shi, Xinyao, Cheng, Jiajia, Sun, Han, Wu, Yongzhen, Qin, Ran, Liu, Cheng, Zhao, Chunhua, Sun, Xiaohui, Cui, Fa

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When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes von Ji, Xueqi, Li, Qiongmei, Qi, Yiming, Wang, Xingwang, Ding, Hongke, Lu, Jian, Zhang, Yan, Yin, Aihua

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Novel Biallelic Variant in the BRAT1 Gene Caused Nonprogressive Cerebellar Ataxia Syndrome von Qi, Yiming, Ji, Xueqi, Ding, Hongke, Liu, Ling, Zhang, Yan, Yin, Aihua

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Severe fetal anemia and hydrops fetalis associated with compound heterozygosity for Hb Zurich-Albisrieden (HBA2:c.178G>C) and Hb Quong Sze (HBA2:c.377T>C) von Du, Li, Bao, Xiuqin, He, Wei, Qin, Danqing, Wang, Jicheng, Xiong, Ying, Shi, Xiaomei, Ding, Hongke, Yao, Cuize, Wu, Jing

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Paternal De Novo Variant of TAOK1 in a Fetus With Structural Brain Abnormalities von Yu, Lihua, Yang, Chaoxiang, Shang, Ning, Ding, Hongke, Zhu, Juan, Zhu, Yuanyuan, Tan, Haowen, Zhang, Yan

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A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree von Yu, Lihua, Ding, Hongke, Liu, Min, Liu, Ling, Zhang, Qi, Lu, Jian, Guo, Fangfang, Zhang, Yan

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A novel non-sense variant in the OFD1 gene caused Joubert syndrome von Li, Chen, Wang, Xingwang, Li, Fake, Ding, Hongke, Liu, Ling, Xiong, Ying, Yang, Chaoxiang, Zhang, Yan, Wu, Jing, Yin, Aihua

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Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis von Zhang, Yan, Zhang, Yi, Zhang, Victor Wei, Zhang, Chunyi, Ding, Hongke, Yin, Aihua

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High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases von Zeng, Yimo, Ding, Hongke, Wang, Xingwang, Huang, Yanlin, Liu, Ling, Du, Li, Lu, Jian, Wu, Jing, Zeng, Yukun, Mai, Mingqin, Zhu, Juan, Yu, Lihua, He, Wei, Guo, Fangfang, Peng, Haishan, Yao, Cuize, Qi, Yiming, Liu, Yuan, Li, Fake, Yang, Jiexia, Hu, Rong, Liang, Jie, Wang, Jicheng, Wang, Wei, Zhang, Yan, Yin, Aihua

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A Novel Multi-Exon Deletion of PACS1 in a Three-Generation Pedigree: Supplements to PACS1 Neurodevelopmental Disorder Spectrum von Liu, Yuan, Ding, Hongke, Yan, Tizhen, Liu, Ling, Yu, Lihua, Huang, Yanlin, Li, Fake, Zeng, Yukun, Huang, Weiwei, Zhang, Yan, Yin, Aihua

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Development of a community-based hearing loss prevention and control service model in Guangdong, China von Liu, Chang, Wang, Anshi, Huang, Yanlin, Zhang, Yan, Ding, Hongke, Wu, Jing, Du, Li, Yang, Jie, Mai, Fei, Zeng, Yukun, Liu, Ling, Zhao, Xin, Zhang, Changbin, Yin, Aihua

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A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom von Qi, Yiming, Ding, Hongke, Huang, Yanlin, Zeng, Yukun, Yu, Lihua, Liu, Ling, Zhang, Yan, Yin, Aihua

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Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China von Liu, Chang, Zhang, Xiangzhong, Wang, Jicheng, Zhang, Yan, Wang, Anshi, Lu, Jian, Huang, Yanlin, Liu, Shu, Wu, Jing, Du, Li, Yang, Jie, Ding, Hongke, Liu, Ling, Zhao, Xin, Yin, Aihua

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Rare inborn errors associated with chronic hepatitis B virus infection von Zhao, Qiang, Peng, Liang, Huang, Weijun, Li, Qibin, Pei, Yuanyuan, Yuan, Ping, Zheng, Lingyan, Zhang, Yongling, Deng, Jia, Zhong, Cheng, Hu, Bin, Ding, Hongke, Fang, Wei, Li, Ru, Liao, Qijun, Lin, Chaoshuang, Deng, Weiping, Yan, Huijun, Hou, Jinghui, Wu, Qiuliang, Xu, Tingting, Liu, Jinsong, Hu, Longbo, Peng, Tao, Chen, Suqing, Lai, Kar N., Yuen, Man-Fung, Wang, Yue, Maini, Mala K., Li, Caixia, Li, Miaoxin, Wang, Jian, Zhang, Xiuqing, Sham, Pak-Chung, Wang, Jun, Gao, Zhi-Liang, Wang, Yiming

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Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities von Lu, Jiaqi, Qi, Yiming, Ding, Hongke, Yin, Aihua

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Variants c.677 C>T, c.1298 A>C in MTHFR , and c.66 A>G in MTRR Affect the Occurrence of Recurrent Pregnancy Loss in Chinese Women von Zhang, Yan, Zhan, Wenli, Du, Qianyi, Wu, Li, Ding, Hongke, Liu, Fenghua, Yin, Aihua

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