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BMC Medical Genomics

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1. Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

   Authors:Haining Luo, Chao Chen, Yun Yang, Yinfeng Zhang, Yuan Yuan, Wanyang Wang, Renhua Wu, Zhiyu Peng, Ying Han, Lu Jiang, Ruqiang Yao, Xiaoying An, Weiwei Zhang, Yanqun Le, Jiale Xiang, Na Yi…

   Content type:Research article

   7 November 2019

2. Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family

   Authors:Eva Lindholm Carlström, Jonatan Halvardson, Mitra Etemadikhah, Lennart Wetterberg, Karl-Henrik Gustavson and Lars Feuk

   Content type:Research article

   6 November 2019

3. Potential risks and solutions for sharing genome summary data from African populations

   Authors:Nicki Tiffin

   Content type:Debate

   4 November 2019

4. Detection of fetal trisomy and single gene disease by massively parallel sequencing of extracellular vesicle DNA in maternal plasma: a proof-of-concept validation

   Authors:Weiting Zhang, Sen Lu, Dandan Pu, Haiping Zhang, Lin Yang, Peng Zeng, Fengxia Su, Zhichao Chen, Mei Guo, Ying Gu, Yanmei Luo, Huamei Hu, Yanping Lu, Fang Chen and Ya Gao

   Content type:Research article

   4 November 2019

5. Epigenetic landscapes suggest that genetic risk for intracranial aneurysm operates on the endothelium

   Authors:Kerry E. Poppenberg, Kaiyu Jiang, Michael K. Tso, Kenneth V. Snyder, Adnan H. Siddiqui, John Kolega, James N. Jarvis, Hui Meng and Vincent M. Tutino

   Content type:Research article

   30 October 2019