Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

by Thormaehlen, Aenne S., Schuberth, Christian, Won, Hong-Hee, Blattmann, Peter, Joggerst-Thomalla, Brigitte, Theiss, Susanne, Asselta, Rosanna, Duga, Stefano, Merlini, Piera Angelica, Ardissino, Diego, Gabriel, Stacey B., Rader, Daniel J., Peloso, Gina M., Pepperkok, Rainer, Kathiresan, Sekar, Runz, Heiko, Lander, Eric Steven
Published 2015

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart DiseaseNovelty and Significance

by Nomura, Akihiro, Won, Hong-Hee, Khera, Amit V., Takeuchi, Fumihiko, Ito, Kaoru, McCarthy, Shane, Emdin, Connor A., Klarin, Derek, Natarajan, Pradeep, Gupta, Namrata, Peloso, Gina M., Borecki, Ingrid B., Teslovich, Tanya M., Asselta, Rosanna, Duga, Stefano, Merlini, Piera A., Correa, Adolfo, Kessler, Thorsten, Wilson, James G., Bown, Matthew J., Hall, Alistair S., Braund, Peter S., Carey, David J., Kirchner, H. Lester, Leader, Joseph B., Lavage, Daniel R., Manus, J. Neil, Hartze, Dustin N., Samani, Nilesh J., Schunkert, Heribert, Marrugat, Jaume, Elosua, Roberto, McPherson, Ruth, Farrall, Martin, Watkins, Hugh, Juang, Jyh-Ming J., Hsiung, Chao A., Lin, Shih-Yi, Wang, Jun-Sing, Tada, Hayato, Kawashiri, Masa-aki, Inazu, Akihiro, Yamagishi, Masakazu, Katsuya, Tomohiro, Nakashima, Eitaro, Nakatochi, Masahiro, Yamamoto, Ken, Yokota, Mitsuhiro, Momozawa, Yukihide, Rotter, Jerome I., Rader, Daniel J., Danesh, John, Ardissino, Diego, Gabriel, Stacey, Willer, Cristen J., Abecasis, Goncalo R., Saleheen, Danish, Kubo, Michiaki, Kato, Norihiro, Ida Chen, Yii-Der, Dewey, Frederick E., Kathiresan, Sekar, Zekavat, Seyedeh M., Murray, Michael F, Lander, Eric Steven
Published 2018