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Featured article: Rare CNV screening in ulcerative colitis

Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

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1. Content Type:Research Article

     |  27 February 2018

   Expansion of phenotypic spectrum of MYO15Apathogenic variants to include postlingual onset of progressive partial deafness

   Authors:Mun Young Chang, Chung Lee, Jin Hee Han, Min Young Kim, Hye-Rim Park, Nayoung Kim, Woong-Yang Park, Doo Yi Oh and Byung Yoon Choi
2. Content Type:Case Report

     |  27 February 2018

   Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report

   Authors:Shengjie Tian, Jianhua Zhu and Yaogang Lu
3. Content Type:Case Report

     |  27 February 2018

   Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review

   Authors:Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li and Jing Liu
4. Content Type:Research Article

     |  21 February 2018

   Altered DNA methylation in liver and adipose tissues derived from individuals with obesity and type 2 diabetes

   Authors:Francisco Barajas-Olmos, Federico Centeno-Cruz, Carlos Zerrweck, Iván Imaz-Rosshandler, Angélica Martínez-Hernández, Emilio J. Cordova, Claudia Rangel-Escareño, Faustino Gálvez, Armando Castillo, Hernán Maydón, Francisco Campos, Diana Gabriela Maldonado-Pintado and Lorena Orozco
5. Content Type:Research Article

     |  20 February 2018

   Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population

   Authors:Wei Hu, Yujia Ye, Yirui Yin, Peng Sang, Linhua Li, Jing Wang, Wen Wan, Rui Li, Xiangfeng Bai, Yuehui Xie and Zhaohui Meng

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