Biparental Inheritance of Mitochondrial DNA in Humans von Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S., Huang, Taosheng

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Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis von Wang, Huilin, Dong, Zirui, Zhang, Rui, Chau, Matthew Hoi Kin, Yang, Zhenjun, Tsang, Kathy Yin Ching, Wong, Hoi Kin, Gui, Baoheng, Meng, Zhuo, Xiao, Kelin, Zhu, Xiaofan, Wang, Yanfang, Chen, Shaoyun, Leung, Tak Yeung, Cheung, Sau Wai, Kwok, Yvonne K., Morton, Cynthia C., Zhu, Yuanfang, Choy, Kwong Wai

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A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM) von Yeung, Queenie S. Y., Zhang, Ying Xin, Chung, Jacqueline P. W., Lui, Wai Ting, Kwok, Yvonne K. Y., Gui, Baoheng, Kong, Grace W. S., Cao, Ye, Li, Tin Chiu, Choy, Kwong Wai

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Third generation sequencing transforms the way of the screening and diagnosis of thalassemia: a mini-review von Zhan, Lixia, Gui, Chunrong, Wei, Wei, Liu, Juliang, Gui, Baoheng

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Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes von Wei, Xiaojiao, Ma, Yunting, Xie, Bobo, Gui, Chunrong, Shi, Meizhen, Wei, Xianda, Huang, Yan, Fan, Xin, Wei, Qiaozhen, Huang, Qingmei, Deng, Li, Zhang, Chi, Deng, Xiaoli, Gui, Baoheng, Chen, Yujun

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The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping von Ma, Yunting, Gui, Chunrong, Shi, Meizhen, Wei, Lilin, He, Junfang, Xie, Bobo, Zheng, Haiyang, Lei, Xiaoyun, Wei, Xianda, Cheng, Zifeng, Zhou, Xu, Chen, Shaoke, Luo, Jiefeng, Huang, Yan, Gui, Baoheng

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Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review von Wei, Xianda, Zhou, Xu, Xie, BoBo, Shi, Meizhen, Gui, Chunrong, Liu, Bo, Li, Caiyan, Zhang, Chi, Luo, Jiefeng, Mi, Cundong, Gui, Baoheng

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Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders? von Gui, Baoheng, Slone, Jesse, Huang, Taosheng

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Novel pathogenic ACAN variants in non-syndromic short stature patients von Hu, Xuyun, Gui, Baoheng, Su, Jiasun, Li, Hongdou, Li, Niu, Yu, Tingting, Zhang, Qinle, Xu, Yufei, Li, Guoqiang, Chen, Yulin, Qing, Yanrong, Li, Chuan, Luo, Jingsi, Fan, Xin, Ding, Yu, Li, Juan, Wang, Jian, Wang, Xiumin, Chen, Shaoke, Shen, Yiping

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Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome von Shi, Meizhen, Liang, Yuying, Xie, Bobo, Wei, Xianda, Zheng, Haiyang, Gui, Chunrong, Huang, Rong, Fan, Xin, Li, Chuan, Wei, Xiaojiao, Ma, Yunting, Chen, Shaoke, Chen, Yujun, Gui, Baoheng

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Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients von Fu, Chunyun, Wang, Jin, Luo, Shiyu, Yang, Qi, Li, Qifei, Zheng, Haiyang, Hu, Xuyun, Su, Jiasun, Zhang, Shujie, Chen, Rongyu, Luo, Jingsi, Zhang, Yue, Shen, Yiping, Wei, Hongwei, Meng, Dahua, Gui, Baoheng, Zeng, Zhangqin, Fan, Xin, Chen, Shaoke

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Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five‐generation family von Wei, Xianda, Huang, Guori, Gui, Baoheng, Xie, Bobo, Chen, Shaoke, Fan, Xin, Chen, Yujun

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Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients von Yu, Chenxi, Xie, Bobo, Zhao, Zhengye, Zhao, Sen, Liu, Lian, Cheng, Xi, Li, Xiaoxin, Cao, Bingyan, Shao, Jiashen, Chen, Jiajia, Zhao, Hengqiang, Yan, Zihui, Su, Chang, Niu, Yuchen, Song, Yanning, Wei, Liya, Wang, Yi, Ren, Xiaoya, Fan, Lijun, Zhang, Beibei, Li, Chuan, Gui, Baoheng, Zhang, Yuanqiang, Wang, Lianlei, Chen, Shaoke, Zhang, Jianguo, Wu, Zhihong, Gong, Chunxiu, Fan, Xin, Wu, Nan

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Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature von Gui, Baoheng, Yu, Chenxi, Li, Xiaoxin, Zhao, Sen, Zhao, Hengqiang, Yan, Zihui, Cheng, Xi, Lin, Jiachen, Zheng, Haiyang, Shao, Jiashen, Zhao, Zhengye, Zhao, Lina, Niu, Yuchen, Zhao, Zhi, Wang, Huizi, Xie, Bobo, Wei, Xianda, Gui, Chunrong, Li, Chuan, Chen, Shaoke, Wang, Yi, Song, Yanning, Gong, Chunxiu, Zhang, Terry Jianguo, Fan, Xin, Wu, Zhihong, Chen, Yujun, Wu, Nan

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A New Next-Generation Sequencing-Based Assay for Concurrent Preimplantation Genetic Diagnosis of Charcot-Marie-Tooth Disease Type 1A and Aneuploidy Screening von Gui, Baoheng, Yang, Pu, Yao, Zhongyuan, Li, Yanping, Liu, Donge, Liu, Nenghui, Lu, Sijia, Liang, Desheng, Wu, Lingqian

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Practical Considerations in Providing Preimplantation Genetic Testing for Aneuploidies (PGT-A) von Yeung, Queenie S.Y., Zhang, Ying Xin, Chung, Jacqueline P.W., Kwok, Yvonne K.Y., Gui, Baoheng, Choy, Kwong Wai, Li, Tin Chiu

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Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing–based analysis for hemophilia: experience from a hemophilia treatment... von Shi, Meizhen, Ma, Yunting, Peng, Xianwei, Zhou, Xu, Cheng, Zifeng, Xie, Bobo, Wei, Xianda, Gui, Chunrong, Mao, Aiping, Lin, Wenting, Luo, Jiefeng, Lai, Yinghui, Gui, Baoheng

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The current landscape for the treatment of mitochondrial disorders von Slone, Jesse, Gui, Baoheng, Huang, Taosheng

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Long-Molecule Sequencing: A New Approach for Identification of Clinically Significant DNA Variants in α-Thalassemia and β-Thalassemia Carriers von Xu, Liangpu, Mao, Aiping, Liu, Hui, Gui, Baoheng, Choy, Kwong W, Huang, Hailong, Yu, Qian, Zhang, Xiaojie, Chen, Meihuan, Lin, Na, Chen, Lingji, Han, Jin, Wang, Yan, Zhang, Min, Li, Xiaoyu, He, Deqin, Lin, Yuan, Zhang, Jianguang, Cram, David S, Cao, Hua

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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature von Fan, Xin, Zhao, Sen, Yu, Chenxi, Wu, Di, Yan, Zihui, Fan, Lijun, Song, Yanning, Wang, Yi, Li, Chuan, Ming, Yue, Gui, Baoheng, Niu, Yuchen, Li, Xiaoxin, Yang, Xinzhuang, Luo, Shiyu, Zhang, Qiang, Zhao, Xiuli, Pan, Hui, Li, Mei, Xia, Weibo, Qiu, Guixing, Liu, Pengfei, Zhang, Shuyang, Zhang, Jianguo, Wu, Zhihong, Lupski, James R., Posey, Jennifer E., Chen, Shaoke, Gong, Chunxiu, Wu, Nan

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