Targeted next-generation sequencing identified ADAMTS5 as novel genetic substrate in patients with bicuspid aortic valve

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From GWAS Catalog

The Catalog is a quality controlled, manually curated, literature-derived collection of all published genome-wide association studies.

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• A Functional Aryl Hydrocarbon Receptor Genetic Variant, Alone and in Combination with Parental Exposure, is a Risk Factor for Congenital Heart Disease.  
  Cardiovascular toxicology 2017 Nov .
  Pulignani Silvia, Borghini Andrea, Vecoli Cecilia, Foffa Ilenia, Ait-Ali Lamia, Andreassi Maria Graz
• Targeted next-generation sequencing identified ADAMTS5 as novel genetic substrate in patients with bicuspid aortic valve. 
  International journal of cardiology 2017 Nov .
  Lin Xiaoping, Liu Xianbao, Wang Lihan, Jiang Jubo, Sun Yinghao, Zhu Qifeng, Chen Zexin, He Yuxin, Hu Po, Xu Qiyuan, Gao Feng, Lin Yan, Jaiswal Sanjay, Xiang Meixiang, Wang Jian'
• A Genome Wide Association Study of Congenital Cardiovascular Left-Sided Lesions Shows Association with a Locus on Chromosome 20.  
  Human molecular genetics 2016 Mar .
  Hanchard Neil A, Swaminathan Shanker, Bucasas Kristine, Furthner Dieter, Fernbach Susan, Azamian Mahshid S, Wang Xueqing, Lewin Mark, Towbin Jeffrey A, D'Alessandro Lisa C A, Morris Shaine A, Dreyer William, Denfield Susan, Ayres Nancy A, Franklin Wayne J, Justino Henri, Lantin-Hermoso M Regina, Ocampo Elena C, Santos Alexia B, Parekh Dhaval, Moodie Douglas, Jeewa Aamir, Lawrence Emily, Allen Hugh D, Penny Daniel J, Fraser Charles D, Lupski James R, Popoola Mojisola, Wadhwa Lalita, Brook J David, Bu'Lock Frances A, Bhattacharya Shoumo, Lalani Seema R, Zender Gloria A, Fitzgerald-Butt Sara, Bowman Jessica, Corsmeier Don, White Peter, Lecerf Kelsey, Zapata Gladys, Hernandez Patricia, Goodship Judith A, Garg Vidu, Keavney Bernard D, Leal Suzanne M, Cordell Heather J, Belmont John W, McBride Kim
• A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. 
  Nature genetics 2013 Jul 45 (7): 818-21.
  Hu Zhibin, Shi Yongyong, Mo Xuming, Xu Jing, Zhao Bijun, Lin Yuan, Yang Shiwei, Xu Zhengfeng, Dai Juncheng, Pan Shandong, Da Min, Wang Xiaowei, Qian Bo, Wen Yang, Wen Juan, Xing Jinliang, Guo Xuejiang, Xia Yankai, Ma Hongxia, Jin Guangfu, Yu Shiqiang, Liu Jiayin, Zhou Zuomin, Wang Xinru, Chen Yijiang, Sha Jiahao, Shen Hongbi
• Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.  
  Nature genetics 2013 Jul 45 (7): 822-4.
  Cordell Heather J, Bentham Jamie, Topf Ana, Zelenika Diana, Heath Simon, Mamasoula Chrysovalanto, Cosgrove Catherine, Blue Gillian, Granados-Riveron Javier, Setchfield Kerry, Thornborough Chris, Breckpot Jeroen, Soemedi Rachel, Martin Ruairidh, Rahman Thahira J, Hall Darroch, van Engelen Klaartje, Moorman Antoon F M, Zwinderman Aelko H, Barnett Phil, Koopmann Tamara T, Adriaens Michiel E, Varro Andras, George Alfred L, dos Remedios Christobal, Bishopric Nanette H, Bezzina Connie R, O'Sullivan John, Gewillig Marc, Bu'Lock Frances A, Winlaw David, Bhattacharya Shoumo, Devriendt Koen, Brook J David, Mulder Barbara J M, Mital Seema, Postma Alex V, Lathrop G Mark, Farrall Martin, Goodship Judith A, Keavney Bernard

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