Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation von Zhu, Guangya, Xie, Jingjing, Kong, Wenna, Xie, Jingfei, Li, Yichen, Du, Lin, Zheng, Qiangang, Sun, Lin, Guan, Mingfeng, Li, Huan, Zhu, Tianxin, He, Hao, Liu, Zhenying, Xia, Xi, Kan, Chen, Tao, Youqi, Shen, Hong C., Li, Dan, Wang, Siying, Yu, Yongguo, Yu, Zhi-Hong, Zhang, Zhong-Yin, Liu, Cong, Zhu, Jidong

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Clinical utility of regions of homozygosity (ROH) identified in exome sequencing: when to pursue confirmatory uniparental disomy testing for imprinting disorders? von Huo, Xiaoyan, Lu, Xinyi, Lu, Deyun, Liu, Huili, Liu, Yi, Zhao, Qianfeng, Sun, Yu, Dai, Weiqian, Qiu, Wenjuan, Yu, Yongguo, Fan, Yanjie

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Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China von Luo, Xiaomei, Duan, Ying, Fang, Di, Sun, Yu, Xiao, Bing, Zhang, Huiwen, Han, Lianshu, Liang, Lili, Gong, Zhuwen, Gu, Xuefan, Yu, Yongguo, Qiu, Wenjuan

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The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling von Hong, Nanchao, Zhang, Erge, Xie, Huilin, Jin, Lihui, Zhang, Qi, Lu, Yanan, Chen, Alex F., Yu, Yongguo, Zhou, Bin, Chen, Sun, Yu, Yu, Sun, Kun

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KaryoXpert: An accurate chromosome segmentation and classification framework for karyotyping analysis without training with manually labeled metaphase-image mask annotations von Chen, Siyuan, Zhang, Kaichuang, Hu, Jingdong, Li, Na, Xu, Ao, Li, Haoyang, Zhou, Juexiao, Huang, Chao, Yu, Yongguo, Gao, Xin

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Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study von 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, Du, Juan, Yan, Huifang, Duan, Ruoyu, Wang, Junyu, Zhang, Yu, Liao, Shixiu, Sun, Kun, Wu, Lingqian, Yu, Yongguo

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RT‐PCR analysis of mRNA revealed the splice‐altering effect of rare intronic variants in monogenic disorders von Zhang, Xia, Qiu, Wenjuan, Liu, Huili, Ye, Xiantao, Sun, Yu, Fan, Yanjie, Yu, Yongguo

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Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools von Fan, Yanjie, Zhou, Ying, Liu, Huili, Luo, Xiaomei, Xu, Ting, Sun, Yu, Yang, Tingting, Chen, Linlin, Gu, Xuefan, Yu, Yongguo

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De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling von Liu, Xiaomin, Hu, Guorui, Ye, Jun, Ye, Bin, Shen, Nan, Tao, Yue, Zhang, Xia, Fan, Yanjie, Liu, Huili, Zhang, Zhigang, Fang, Danfeng, Gu, Xuefan, Mo, Xi, Yu, Yongguo

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Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia von Sun, Yu, Hu, Guorui, Luo, Jihang, Fang, Di, Yu, Yongguo, Wang, Xiang, Chen, Jing, Qiu, Wenjuan

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Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders von Xiao, Bing, Luo, Xiaomei, Liu, Yi, Ye, Hui, Liu, Huili, Fan, Yanjie, Yu, Yongguo

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CCNK Gene Deficiency Influences Neural Progenitor Cells Via Wnt5a Signaling in CCNK‐Related Syndrome von Dai, Weiqian, Wang, He, Zhan, Yongkun, Li, Nan, Li, Fei, Wang, Jingmin, Yan, Huifang, Zhang, Yu, Wang, Junyu, Wu, Lingqian, Liu, Huili, Fan, Yanjie, Tao, Yue, Mo, Xi, Yang, Jian‐Jun, Sun, Kun, Chen, Guiquan, Yu, Yongguo

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Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann–Steiner syndrome von Sun, Yu, Hu, Guorui, Liu, Huili, Zhang, Xia, Huang, Zhuo, Yan, Hui, Wang, Lili, Fan, Yanjie, Gu, Xuefan, Yu, Yongguo

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A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes von Xu, Na, Lv, Hui, Yang, Tingting, Du, Xiujuan, Sun, Yu, Xiao, Bing, Fan, Yanjie, Luo, Xiaomei, Zhan, Yongkun, Wang, Lili, Li, Fei, Yu, Yongguo

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A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses von Zhao, Yining, Fang, Xiaoliang, He, Lei, Fan, Yanjie, Li, Yueyan, Xu, Guofeng, Yu, Yongguo, Geng, Hongquan

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Genome-wide detection of natural selection in African Americans pre- and post-admixture von Jin, Wenfei, Xu, Shuhua, Wang, Haifeng, Yu, Yongguo, Shen, Yiping, Wu, Bailin, Jin, Li

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Gut microbiota and metabolic changes in children with idiopathic short stature von Yan, Luyan, Ye, Bin, Yang, Min, Shan, Yongsheng, Yan, Dan, Fang, DanFeng, Zhang, Kaichuang, Yu, Yongguo

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The Association Between STAT4 rs7574865 Polymorphism and the Susceptibility of Autoimmune Thyroid Disease: A Meta-Analysis von Gao, Xueren, Wang, Jianguo, Yu, Yongguo

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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays von Fan, Yanjie, Wang, Lili, Sun, Yu, Xu, Ting, Gong, Zhuwen, Zhao, Qianfeng, Qiu, Wenjuan, Liang, Lili, Xiao, Bing, Zhang, Huiwen, Han, Lianshu, Lin, Fujun, Xu, Rang, Gu, Xuefan, Yu, Yongguo

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Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis von Zhao, Yining, Fang, Xiaoliang, Fan, Yanjie, Sun, Yu, He, Lei, Xu, Maosheng, Xu, Guofeng, Li, Yufeng, Huang, Yunteng, Yu, Yongguo, Geng, Hongquan

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