Mutations in HFM1 in Recessive Primary Ovarian Insufficiency von Wang, Jian, Zhang, Wenxiang, Jiang, Hong, Wu, Bai-Lin

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Association between Microdeletion and Microduplication at 16p11.2 and Autism von Weiss, Lauren A, Shen, Yiping, Korn, Joshua M, Arking, Dan E, Miller, David T, Fossdal, Ragnheidur, Saemundsen, Evald, Stefansson, Hreinn, Stefansson, Kari, Ferreira, Manuel A.R, Green, Todd, Platt, Orah S, Ruderfer, Douglas M, Walsh, Christopher A, Altshuler, David, Chakravarti, Aravinda, Tanzi, Rudolph E, Santangelo, Susan L, Gusella, James F, Sklar, Pamela, Wu, Bai-Lin, Daly, Mark J

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Copy number variation plays an important role in clinical epilepsy von Olson, Heather, Shen, Yiping, Avallone, Jennifer, Sheidley, Beth R., Pinsky, Rebecca, Bergin, Ann M., Berry, Gerard T., Duffy, Frank H., Eksioglu, Yaman, Harris, David J., Hisama, Fuki M., Ho, Eugenia, Irons, Mira, Jacobsen, Christina M., James, Philip, Kothare, Sanjeev, Khwaja, Omar, Lipton, Jonathan, Loddenkemper, Tobias, Markowitz, Jennifer, Maski, Kiran, Megerian, J. Thomas, Neilan, Edward, Raffalli, Peter C., Robbins, Michael, Roberts, Amy, Roe, Eugene, Rollins, Caitlin, Sahin, Mustafa, Sarco, Dean, Schonwald, Alison, Smith, Sharon E., Soul, Janet, Stoler, Joan M., Takeoka, Masanori, Tan, Wen-Han, Torres, Alcy R., Tsai, Peter, Urion, David K., Weissman, Laura, Wolff, Robert, Wu, Bai-Lin, Miller, David T., Poduri, Annapurna

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Autistic children exhibit decreased levels of essential Fatty acids in red blood cells von Brigandi, Sarah A, Shao, Hong, Qian, Steven Y, Shen, Yiping, Wu, Bai-Lin, Kang, Jing X

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Rare Deleterious PARD3 Variants in the aPKC‐Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation von Chen, Xiaoli, An, Yu, Gao, Yonghui, Guo, Liu, Rui, Lei, Xie, Hua, Sun, Mei, Lam Hung, Siv, Sheng, Xiaoming, Zou, Jizhen, Bao, Yihua, Guan, Hongyan, Niu, Bo, Li, Zandong, Finnell, Richard H., Gusella, James F., Wu, Bai‐Lin, Zhang, Ting

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Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism von Yu, Li, Wu, YiMing, Wu, Bai-Lin

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High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability von Gong, Xiaohong, Jiang, Yu-Wu, Zhang, Xin, An, Yu, Zhang, Jun, Wu, Ye, Wang, Jingmin, Sun, Yangfei, Liu, Yanyan, Gao, Xuewu, Shen, Yiping, Wu, Xiru, Qiu, Zilong, Jin, Li, Wu, Bai-Lin, Wang, Hongyan

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Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects von Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard

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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy von Poduri, Annapurna, Chopra, Sameer S., Neilan, Edward G., Christina Elhosary, P., Kurian, Manju A., Meyer, Esther, Barry, Brenda J., Khwaja, Omar S., Salih, Mustafa A. M., Stödberg, Tommy, Scheffer, Ingrid E., Maher, Eamonn R., Sahin, Mustafa, Wu, Bai-Lin, Berry, Gerard T., Walsh, Christopher A., Picker, Jonathan, Kothare, Sanjeev V.

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Exome and Whole-Genome Sequencing as Clinical Tests: A Transformative Practice in Molecular Diagnostics von YONGGUO YU, WU, Bai-Lin, JIE WU, YIPING SHEN

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GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment von Dai, Pu, Yu, Fei, Han, Bing, Liu, Xuezhong, Wang, Guojian, Li, Qi, Yuan, Yongyi, Liu, Xin, Huang, Deliang, Kang, Dongyang, Zhang, Xin, Yuan, Huijun, Yao, Kun, Hao, Jinsheng, He, Jia, He, Yong, Wang, Youqin, Ye, Qing, Yu, Youjun, Lin, Hongyan, Liu, Lijia, Deng, Wei, Zhu, Xiuhui, You, Yiwen, Cui, Jinghong, Hou, Nongsheng, Xu, Xuehai, Zhang, Jin, Tang, Liang, Song, Rendong, Lin, Yongjun, Sun, Shuanzhu, Zhang, Ruining, Wu, Hao, Ma, Yuebing, Zhu, Shanxiang, Wu, Bai-lin, Han, Dongyi, Wong, Lee-Jun C

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Detection of copy number variants reveals association of cilia genes with neural tube defects von Chen, Xiaoli, Shen, Yiping, Gao, Yonghui, Zhao, Huizhi, Sheng, Xiaoming, Zou, Jizhen, Lip, Va, Xie, Hua, Guo, Jin, Shao, Hong, Bao, Yihua, Shen, Jianliang, Niu, Bo, Gusella, James F, Wu, Bai-Lin, Zhang, Ting

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Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs von Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.

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Quantitative evaluation of left ventricular volume and function in middle-aged healthy chinese people with 3 Tesla MRI von Li, Cai-Ying, Gao, Bu-Lang, Guo, Fu-Qian, Zhang, Xue-Jing, Fan, Qiong-Ying, Wu, Bai-Lin, Xiang, Cheng, Liu, Xiao-Wei, Pan, Tong

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Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family von Shen, Yiping, Chen, Xiaoli, Wang, Liwen, Guo, Jin, Shen, Jianliang, An, Yu, Zhu, Haitao, Zhu, Yanli, Xin, Ruolei, Bao, Yihua, Gusella, James F., Zhang, Ting, Wu, Bai-Lin

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Association analysis between HFM1 variations and idiopathic azoospermia or severe oligozoospermia in Chinese Men von Zhang, Wenxiang, Song, Xiaomin, Ni, Feng, Cheng, Jinbao, Wu, Bai-Lin, Jiang, Hong

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Global DNA hypomethylation is associated with NTD-affected pregnancy: A case-control study von Chen, Xiaoli, Guo, Jin, Lei, Yunping, Zou, Jizhen, Lu, Xiaolin, Bao, Yihua, Wu, Lihua, Wu, Jianxin, Zheng, Xiaoying, Shen, Yiping, Wu, Bai-Lin, Zhang, Ting

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SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay von An, Yu, Amr, Sami S., Torres, Alcy, Weissman, Laura, Raffalli, Peter, Cox, Gerald, Sheng, Xiaoming, Lip, Va, Bi, Weimin, Patel, Ankita, Stankiewicz, Pawel, Wu, Bai-Lin, Shen, Yiping

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Identification of novel rare mutations of DACT1 in human neural tube defects von Shi, Yan, Ding, Yi, Lei, Yun-Ping, Yang, Xue-Yan, Xie, Guo-Ming, Wen, Jun, Cai, Chun-Quan, Li, Hong, Chen, Ying, Zhang, Ting, Wu, Bai-Lin, Jin, Li, Chen, Ye-Guang, Wang, Hong-Yan

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High Intensity ras Signaling Induces Premature Senescence by Activating p38 Pathway in Primary Human Fibroblasts von Deng, Qingdong, Liao, Rong, Wu, Bai-Lin, Sun, Peiqing

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