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    Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes von Son, Rachel, England, Eleina, Cole, Joanne B., Weisburd, Ben, Watts, Nick, Caulkins, Lizz, Dornbos, Peter, Koesterer, Ryan, Zappala, Zachary, Zhang, Haichen, Maloney, Kristin A., Dahl, Andy, Aguilar-Salinas, Carlos A., Atzmon, Gil, Barajas-Olmos, Francisco, Barzilai, Nir, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L., Bottinger, Erwin, Bowden, Donald W., Chami, Nathalie, Chan, Edmund, Chan, Juliana, Cheng, Ching-Yu, Cho, Yoon Shin, DeFronzo, Ralph A., Duggirala, Ravindranath, Dupuis, Josée, Garay-Sevilla, Ma Eugenia, Gieger, Christian, Glaser, Benjamin, González-Villalpando, Clicerio, Gonzalez, Ma Elena, Grarup, Niels, Groop, Leif, Gross, Myron, Han, Sohee, Hansen, Torben, Heard-Costa, Nancy L., Henderson, Brian E., Hernandez, Juan Manuel Malacara, Islas-Andrade, Sergio, Jørgensen, Marit E., Kang, Hyun Min, Kim, Bong-Jo, Kim, Young Jin, Koistinen, Heikki A., Kooner, Jaspal Singh, Kuusisto, Johanna, Kwak, Soo-Heon, Laakso, Markku, Lee, Juyoung, Lehman, Donna M., Linneberg, Allan, Loos, Ruth J. F., Ma, Ronald C. W., Martínez-Hernández, Angélica, Meigs, James B., Mendoza-Caamal, Elvia, Mohlke, Karen L., Morris, Andrew D., Morrison, Alanna C., Ng, Maggie C. Y., Nilsson, Peter M., Orozco, Lorena, Palmer, Colin N. A., Park, Kyong Soo, Pedersen, Oluf, Reiner, Alexander P., Revilla-Monsalve, Cristina, Rich, Stephen S., Rotter, Jerome I., Sim, Xueling, Sladek, Rob, Small, Kerrin S., So, Wing Yee, Spector, Timothy D., Strauch, Konstantin, Strom, Tim M., Tai, E. Shyong, Tam, Claudia H. T., Teo, Yik Ying, Thameem, Farook, Tomlinson, Brian, Tracy, Russell P., Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Teresa, van Dam, Rob M., Wilson, James G., Witte, Daniel R., Wong, Tien-Yin, McCarthy, Mark I., Boehnke, Michael, O’Donnell-Luria, Anne, Baxter, Samantha, Florez, Jose C., MacArthur, Daniel G., Udler, Miriam S.

    Veröffentlicht in Nature communications

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    Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes von Dornbos, Peter, Chaffin, Mark D., Liu, Dajiang J., Wang, Minxian, Park, Joseph, Aguilar-Salinas, Carlos A., Arnett, Donna K., Barajas-Olmos, Francisco, Barzilai, Nir, Bielak, Lawrence F., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bottinger, Erwin, Brody, Jennifer A., Broome, Jai G., Burtt, Noël P., Cade, Brian E., Chang, Yi-Cheng, Chen, Yii-Der I., Choi, Won Jung, Contreras-Cubas, Cecilia, Curran, Joanne E., de Vries, Paul S., DeFronzo, Ralph A., Doddapaneni, Harsha, Duggirala, Ravindranath, Dutcher, Susan K., Emery, Leslie S., Freedman, Barry I., García-Ortiz, Humberto, Gibbs, Richard A., Glaser, Benjamin, Gonzalez, Clicerio, Gonzalez-Villalpando, Maria Elena, Graff, Mariaelisa, Grarup, Niels, Gupta, Namrata, Hansen, Torben, Hung, Yi-Jen, Hwang, Mi Yeong, Irvin, Marguerite R., Kang, Hyun Min, Kardia, Sharon L.R., Kelly, Tanika, Khan, Alyna T., Kim, Bong-Jo, Kim, Young Jin, Lange, Leslie A., Lee, Juyoung, Lee, Seonwook, Lehman, Donna M., Linneberg, Allan, Liu, Jianjun, Lyssenko, Valeriya, Ma, Ronald C.W., Martínez-Hernández, Angélica, Mathias, Rasika A., Meigs, James B., Meitinger, Thomas, Metcalf, Ginger A., Mi, Xuenan, Mohlke, Karen L., Montasser, May E., Moon, Jee-Young, Morrison, Alanna C., Muzny, Donna M., Nelson, Sarah C., Nilsson, Peter M., O’Connell, Jeffrey R., Palmer, Nicholette D., Park, Cheol Joo, Peralta, Juan M., Peyser, Patricia A., Preuss, Michael, Qi, Qibin, Rao, D.C., Reiner, Alexander P., Rich, Stephen S., Samani, Nilesh, Schurmann, Claudia, Seo, Daekwan, Seo, Jeong-Sun, Sim, Xueling, Sladek, Rob, So, Wing Yee, Stilp, Adrienne M., Taylor, Kent D., Teo, Yik Ying, Tsai, Michael Y., Vasan, Ramachandran S., Watkins, Hugh, Weeks, Daniel E., Wilson, James G., Yanek, Lisa R., Rader, Daniel J., Rotter, Jerome I., McCarthy, Mark I., Flannick, Jason A., Khera, Amit V.


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    Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls von Mercader, Josep M., Udler, Miriam S., Mahajan, Anubha, Caulkins, Lizz, Barajas-Olmos, Francisco, Blackwell, Thomas W., Boerwinkle, Eric, Brody, Jennifer A., Chen, Siying, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, Cortes, Maria, Dolan, Lawrence, Drews, Kimberly L., Gabriel, Stacey, Garay-Sevilla, Maria Eugenia, García-Ortiz, Humberto, Gross, Myron, Heard-Costa, Nancy L., Jackson, Anne U., Jørgensen, Marit E., Kang, Hyun Min, Kim, Bong-Jo, Lyssenko, Valeriya, Manning, Alisa K., Marcketta, Anthony, Martínez-Hernández, Angélica, Matsuo, Karen, Mayer-Davis, Elizabeth, Mohlke, Karen L., Morrison, Alanna C., Ndungu, Anne, Ng, Maggie C. Y., O’Dushlaine, Colm, Payne, Anthony J., Pihoker, Catherine, Preuss, Michael, Psaty, Bruce M., Reiner, Alexander P., Robertson, Neil R., Santoro, Nicola, Schurmann, Claudia, So, Wing Yee, Soberón, Xavier, Thameem, Farook, Tomlinson, Brian, van Dam, Rob M., Vujkovic, Marijana, Witte, Daniel R., Barzilai, Nir, Bonnycastle, Lori L., Bowden, Donald W., Chambers, John C., Cheng, Ching-Yu, de Vries, Paul S., Glaser, Benjamin, Groop, Leif, Kooner, Jaspal Singh, Kwak, Soo Heon, Lehman, Donna M., Spector, Timothy D., Tai, E. Shyong, Tuomilehto, Jaakko, Wilson, James G., Burke, Brian, Carey, David J., Chan, Juliana C. N., Dupuis, Josée, Frossard, Philippe, Heckbert, Susan R., Hwang, Mi Yeong, Kim, Young Jin, Kirchner, H. Lester, Lee, Jong-Young, Lee, Juyoung, Loos, Ruth J. F., Ma, Ronald C. W., O’Donnell, Christopher J., Park, Kyong Soo, Rasheed, Asif, Saleheen, Danish, Sim, Xueling, Hanis, Craig L., Orozco, Lorena, Dewey, Frederick E., Baras, Aris, Gieger, Christian, Meitinger, Thomas, Strauch, Konstantin, Lange, Leslie, Hansen, Torben, Pedersen, Oluf, Dabelea, Dana, Bell, Graeme I., Sladek, Rob, Rich, Steve S., Rotter, Jerome I., Altshuler, David, Boehnke, Michael

    Veröffentlicht in Nature (London)

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