Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia von Guo, Ting, Tu, Chao-Feng, Yang, Dan-Hui, Ding, Shui-Zi, Lei, Cheng, Wang, Rong-Chun, Liu, Lv, Kang, Xi, Shen, Xiao-Qing, Yang, Yi-Feng, Tan, Zhi-Ping, Tan, Yue-Qiu, Luo, Hong

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CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a Novel Biomarker for Imatinib-Resistant CML von Zhong, An-Ni, Yin, Yi, Tang, Bing-Jie, Chen, Lei, Shen, Hong-Wei, Tan, Zhi-Ping, Li, Wen-Qun, He, Qun, Sun, Bao, Zhu, Yan, Xiao, Jie, Jiang, Zhi-Ping, Xu, Ping

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Identification of Anaplastic Lymphoma Kinase as a Potential Therapeutic Target in Ovarian Cancer von HONG REN, TAN, Zhi-Ping, YI ZHANG, ZHOU, Xin-Min, GU, Ting-Lei, YANG, Yi-Feng, COMB, Michael J, XIN ZHU, CROSBY, Katherine, HAACK, Herbert, REN, Jian-Min, BEAUSOLEIL, Sean, MORITZ, Albrecht, INNOCENTI, Gregory, RUSH, John

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Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report von Yang, Jun-Lin, Gu, Heng, Yuan, Zhuang-Zhuang, Xie, Xiao-Hui, Yang, Yi-Feng, Tan, Zhi-Ping

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An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families von Guo, Ting, Tan, Zhi-Ping, Chen, Hua-Mei, Zheng, Dong-yuan, liu, Lv, Huang, Xin-Gang, Chen, Ping, Luo, Hong, Yang, Yi-Feng

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Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain von Xie, Xiao-hui, Tang, Jian-guang, Liu, Zhong-hua, Peng, Shui-jiao, Yuan, Zhuang-zhuang, Gu, Heng, Hu, Yi-qiao, Tan, Zhi-ping

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Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity von Yang, Dan-hui, Guo, Ting, Yuan, Zhuang-zhuang, Lei, Cheng, Ding, Shui-zi, Yang, Yi-feng, Tan, Zhi-ping, Luo, Hong

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Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy von Fan, Liang-Liang, Yuan, Zhuang-Zhuang, Jiao, Zi-Jun, Zeng, Hui, Yang, Yi-Feng, Tan, Zhi-Ping

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Rare de novo copy number variants in patients with congenital pulmonary atresia von Xie, Li, Chen, Jin-Lan, Zhang, Wei-Zhi, Wang, Shou-Zheng, Zhao, Tian-Li, Huang, Can, Wang, Jian, Yang, Jin-Fu, Yang, Yi-Feng, Tan, Zhi-Ping

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Duplication of 10q22.3-q23.3 encompassing BMPR1A and NGR3 associated with congenital heart disease, microcephaly, and mild intellectual disability von Tang, Mi, Yang, Yi-Feng, Xie, Li, Chen, Jin-Lan, Zhang, Wei-Zhi, Wang, Jian, Zhao, Tian-Li, Yang, Jin-Fu, Tan, Zhi-Ping

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Whole-exome sequencing reveals doubly novel heterozygous Myosin Binding Protein C and Titin mutations in a Chinese patient with severe dilated cardiomyopathy von Fan, Liang-Liang, Chen, Ya-Qin, Huang, Hao, Jin, Jie-Yuan, Li, Jing-Jing, Tan, Zhi-Ping

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Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome von Yuan, Zhuang-Zhuang, Xie, Xiao-Hui, Gu, Heng, Zhang, Wei-Zhi, Hu, Yi-Qiao, Yang, Yi-Feng, Tan, Zhi-Ping

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A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient von Yuan, Zhuang-Zhuang, Fan, Liang-Liang, Jiang, Zi-Chen, Yang, Yi-Feng, Tan, Zhi-Ping

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Microduplication of 3p25.2 encompassing RAF1 associated with congenital heart disease suggestive of Noonan syndrome von Luo, Cheng, Yang, Yi-Feng, Yin, Bang-Liang, Chen, Jin-Lan, Huang, Can, Zhang, Wei-Zhi, Wang, Jian, Zhang, Hong, Yang, Jin-Fu, Tan, Zhi-Ping

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19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome von Dong, Hai-Yun, Zeng, Hui, Hu, Yi-Qiao, Xie, Li, Wang, Jian, Wang, Xiu-Ying, Yang, Yi-Feng, Tan, Zhi-Ping

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Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies von Chen, Jin-Lan, Yang, Yi-Feng, Huang, Can, Wang, Jian, Yang, Jin-Fu, Tan, Zhi-Ping

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A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient von Gu, Heng, Yuan, Zhuang-Zhuang, Xie, Xiao-Hui, Yang, Yi-Feng, Tan, Zhi-Ping

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Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome von Zhu, Xin, Dai, Fu-Rong, Wang, Jian, Zhang, Yu, Tan, Zhi-Ping, Zhang, Yi

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Taurine inhibits osteoblastic differentiation of vascular smooth muscle cells via the ERK pathway von Liao, Xiao-bo, Zhou, Xin-min, Li, Jian-ming, Yang, Jin-fu, Tan, Zhi-ping, Hu, Zhuo-wei, Liu, Wei, Lu, Ying, Yuan, Ling-qing

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576kb deletion in 1p36.33–p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy von Zhu, Xin, Zhang, Yi, Wang, Jian, Yang, Jin-Fu, Yang, Yi-Feng, Tan, Zhi-Ping

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