Loss-of-function variants influence the human serum metabolome

Por Yu, Bing, Li, Alexander H., Metcalf, Ginger A., Muzny, Donna M., Morrison, Alanna C., White, Simon, Mosley, Thomas H., Gibbs, Richard A., Boerwinkle, Eric
Publicado no Sci Adv (2016)

WGSA: an annotation pipeline for human genome sequencing studies

Por Liu, Xiaoming, White, Simon, Peng, Bo, Johnson, Andrew D., Brody, Jennifer A., Li, Alexander H., Huang, Zhuoyi, Carroll, Andrew, Wei, Peng, Gibbs, Richard, Klein, Robert J., Boerwinkle, Eric
Publicado no J Med Genet (2015)

De-epithelialization of porcine tracheal allografts as an approach for tracheal tissue engineering

Por Aoki, Fabio G., Varma, Ratna, Marin-Araujo, Alba E., Lee, Hankyu, Soleas, John P., Li, Alexander H., Soon, Kayla, Romero, David, Moriya, Henrique T., Haykal, Siba, Amon, Cristina, Waddell, Thomas K., Karoubi, Golnaz
Publicado no Sci Rep (2019)

Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease

Por Li, Alexander H, Morrison, Alanna C, Kovar, Christie, Cupples, L Adrienne, Brody, Jennifer A, Polfus, Linda M, Yu, Bing, Metcalf, Ginger, Muzny, Donna, Veeraraghavan, Narayanan, Liu, Xiaoming, Lumley, Thomas, Mosley, Thomas H, Gibbs, Richard A, Boerwinkle, Eric
Publicado no Nat Genet (2015)

FBN1 Contributing to Familial Congenital Diaphragmatic Hernia

Por Beck, Tyler F., Campeau, Philippe M., Jhangiani, Shalini N., Gambin, Tomasz, Li, Alexander H., Abo-Zahrah, Reem, Jordan, Valerie K., Hernandez-Garcia, Andres, Wiszniewski, Wojciech K., Muzny, Donna, Gibbs, Richard A., Boerwinkle, Eric, Lupski, James R., Lee, Brendan, Reardon, Willie, Scott, Daryl A.
Publicado no Am J Med Genet A (2015)

Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine Levels and Incident Coronary Heart Disease

Por Yu, Bing, Li, Alexander H., Muzny, Donna, Veeraraghavan, Narayanan, de Vries, Paul S., Bis, Joshua C., Musani, Solomon K., Alexander, Danny, Morrison, Alanna C., Franco, Oscar H., Uitterlinden, André, Hofman, Albert, Dehghan, Abbas, Wilson, James G., Psaty, Bruce M., Gibbs, Richard, Wei, Peng, Boerwinkle, Eric
Publicado no Circ Cardiovasc Genet (2015)

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Por Li, Alexander H., Hanchard, Neil A., Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid, Nicosia, Annarita, Rosenfeld, Jill, Muzny, Donna, D’Alessandro, Lisa C. A., Morris, Shaine, Jhangiani, Shalini, Parekh, Dhaval R., Franklin, Wayne J., Lewin, Mark, Towbin, Jeffrey A., Penny, Daniel J., Fraser, Charles D., Martin, James F., Eng, Christine, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Belmont, John W.
Publicado no Genome Med (2017)

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia

Por Jordan, Valerie K, Beck, Tyler F, Hernandez-Garcia, Andres, Kundert, Peter N, Kim, Bum-Jun, Jhangiani, Shalini N, Gambin, Tomasz, Starkovich, Molly, Punetha, Jaya, Paine, Ingrid S, Posey, Jennifer E, Li, Alexander H, Muzny, Donna, Hsu, Chih-Wei, Lashua, Amber J, Sun, Xin, Fernandes, Caraciolo J, Dickinson, Mary E, Lally, Kevin P, Gibbs, Richard A, Boerwinkle, Eric, Lupski, James R, Scott, Daryl A
Publicado no Hum Mol Genet (2018)

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

Por Boileau, Catherine, Guo, Dong-Chuan, Hanna, Nadine, Regalado, Ellen S., Detaint, Delphine, Gong, Limin, Varret, Mathilde, Prakash, Siddharth, Li, Alexander H., d’Indy, Hyacintha, Braverman, Alan C., Grandchamp, Bernard, Kwartler, Callie S., Gouya, Laurent, Santos-Cortez, Regie Lyn P., Abifadel, Marianne, Leal, Suzanne M., Muti, Christine, Shendure, Jay, Gross, Marie-Sylvie, Rieder, Mark J., Vahanian, Alec, Nickerson, Deborah A., Michel, Jean Baptiste, Jondeau, Guillaume, Milewicz, Dianna M.
Publicado em 2012

Genetic architecture of laterality defects revealed by whole exome sequencing

Por Li, Alexander H., Hanchard, Neil A., Azamian, Mahshid, D’Alessandro, Lisa C. A., Coban-Akdemir, Zeynep, Lopez, Keila N., Hall, Nancy J., Dickerson, Heather, Nicosia, Annarita, Fernbach, Susan, Boone, Philip M., Gambin, Tomaz, Karaca, Ender, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Doddapaneni, HarshaVardhan, Hu, Jianhong, Dinh, Huyen, Jayaseelan, Joy, Muzny, Donna, Lalani, Seema, Towbin, Jeffrey, Penny, Daniel, Fraser, Charles, Martin, James, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Ware, Stephanie M., Belmont, John W.
Publicado no Eur J Hum Genet (2019)

Genetics of Blood Lipids Among ~300,000 Multi-Ethnic Participants of the Million Veteran Program

Por Klarin, Derek, Damrauer, Scott M., Cho, Kelly, Sun, Yan V., Teslovich, Tanya M., Honerlaw, Jacqueline, Gagnon, David R, DuVall, Scott L., Li, Jin, Peloso, Gina M., Chaffin, Mark, Small, Aeron M., Huang, Jie, Tang, Hua, Lynch, Julie A., Ho, Yuk-Lam, Liu, Dajiang J., Emdin, Connor A., Li, Alexander H., Huffman, Jennifer E., Lee, Jennifer S., Natarajan, Pradeep, Chowdhury, Rajiv, Saleheen, Danish, Vujkovic, Marijana, Baras, Aris, Pyarajan, Saiju, Angelantonio, Emanuele Di, Neale, Benjamin M., Naheed, Aliya, Khera, Amit V., Danesh, John, Chang, Kyong-Mi, Abecasis, Gonçalo, Willer, Cristen, Dewey, Frederick E., Carey, David J., Concato, John, Gaziano, J. Michael, O’Donnell, Christopher J., Tsao, Philip S., Kathiresan, Sekar, Rader, Daniel J., Wilson, Peter W.F., Assimes, Themistocles L.
Publicado no Nat Genet (2018)

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Por Van Hout, Cristopher V., Tachmazidou, Ioanna, Backman, Joshua D., Hoffman, Joshua D., Liu, Daren, Pandey, Ashutosh K., Gonzaga-Jauregui, Claudia, Khalid, Shareef, Ye, Bin, Banerjee, Nilanjana, Li, Alexander H., O’Dushlaine, Colm, Marcketta, Anthony, Staples, Jeffrey, Schurmann, Claudia, Hawes, Alicia, Maxwell, Evan, Barnard, Leland, Lopez, Alexander, Penn, John, Habegger, Lukas, Blumenfeld, Andrew L., Bai, Xiaodong, O’Keeffe, Sean, Yadav, Ashish, Praveen, Kavita, Jones, Marcus, Salerno, William J., Chung, Wendy K., Surakka, Ida, Willer, Cristen J., Hveem, Kristian, Leader, Joseph B., Carey, David J., Ledbetter, David H., Cardon, Lon, Yancopoulos, George D., Economides, Aris, Coppola, Giovanni, Shuldiner, Alan R., Balasubramanian, Suganthi, Cantor, Michael, Nelson, Matthew R., Whittaker, John, Reid, Jeffrey G., Marchini, Jonathan, Overton, John D., Scott, Robert A., Abecasis, Gonçalo R., Yerges-Armstrong, Laura, Baras, Aris
Publicado no Nature (2020)

Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals

Por Kosmicki, Jack A., Horowitz, Julie E., Banerjee, Nilanjana, Lanche, Rouel, Marcketta, Anthony, Maxwell, Evan, Bai, Xiaodong, Sun, Dylan, Backman, Joshua D., Sharma, Deepika, Kury, Fabricio S.P., Kang, Hyun M., O’Dushlaine, Colm, Yadav, Ashish, Mansfield, Adam J., Li, Alexander H., Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Locke, Adam E., Khalid, Shareef, O’Keeffe, Sean, Mbatchou, Joelle, Chazara, Olympe, Huang, Yunfeng, Kvikstad, Erika, O’Neill, Amanda, Nioi, Paul, Parker, Meg M., Petrovski, Slavé, Runz, Heiko, Szustakowski, Joseph D., Wang, Quanli, Wong, Emily, Cordova-Palomera, Aldo, Smith, Erin N., Szalma, Sandor, Zheng, Xiuwen, Esmaeeli, Sahar, Davis, Justin W., Lai, Yi-Pin, Chen, Xing, Justice, Anne E., Leader, Joseph B., Mirshahi, Tooraj, Carey, David J., Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Rader, Daniel J., Povysil, Gundula, Goldstein, David B., Kiryluk, Krzysztof, Pairo-Castineira, Erola, Rawlik, Konrad, Pasko, Dorota, Walker, Susan, Meynert, Alison, Kousathanas, Athanasios, Moutsianas, Loukas, Tenesa, Albert, Caulfield, Mark, Scott, Richard, Wilson, James F., Baillie, J. Kenneth, Butler-Laporte, Guillaume, Nakanishi, Tomoko, Lathrop, Mark, Richards, J. Brent, Jones, Marcus, Balasubramanian, Suganthi, Salerno, William, Shuldiner, Alan R., Marchini, Jonathan, Overton, John D., Habegger, Lukas, Cantor, Michael N., Reid, Jeffrey G., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A.R.
Publicado no Am J Hum Genet (2021)