Browsing NTNU Open by Author "Kheterpal, Sachin"

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    • Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve 

      Yang, Bo; Zhou, Wei; Jiao, Jiao; Nielsen, Jonas Bille; Mathis, Michael R; Heydarpour, Mahyar; Lettre, Guillaume; Folkersen, Lasse; Prakash, Siddharth; Schurmann, Claudia; Fritsche, Lars; Farnum, Gregory A; Lin, Maoxuan; Othman, Mohamed; Hornsby, Whitney; Driscoll, Anisa; Levasseur, Alexandra; Thomas, Marc; Farhat, Linda; Dube, Marie-Pierre; Isselbacher, Eric M.; Franco-Cereceda, Anders; Guo, Dong-Chuan; Bottinger, Erwin P; Deeb, G Michael; Booher, Anna; Kheterpal, Sachin; Chen, Y. Eugene; Kang, Hyun Min; Kitzman, Jacob; Cordell, Heather J.; Keavney, Bernard D; Goodship, Judith A; Ganesh, Santhi K; Abecasis, Goncalo; Eagle, Kim A.; Boyle, Alan P; Loos, Ruth J. F.; Eriksson, Per; Tardif, Jean-Claude; Brummett, Chad M; Milewicz, Dianna M; Body, Simon C; Willer, Cristen J (Journal article; Peer reviewed, 2017)
      Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ...

    • Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis 

      Graham, Sarah E.; Nielsen, Jonas B.; Zawistowski, Matthew; Zhou, Wei; Fritsche, Lars G.; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Surakka, Ida; Hornsby, Whitney E.; Fermin, Damian; Larach, Daniel B.; Kheterpal, Sachin; Brummett, Chad M.; Lee, Seunggeun; Kang, Hyun Min; Abecasis, Goncalo; Romundstad, Solfrid; Hallan, Stein; Sampson, Matthew G.; Hveem, Kristian; Willer, Cristen J. (Journal article; Peer reviewed, 2019)
      Chronic kidney disease (CKD) is a growing health burden currently affecting 10–15% of adults worldwide. Estimated glomerular filtration rate (eGFR) as a marker of kidney function is commonly used to diagnose CKD. We analyze ...