Search Results - "Deubler, Andrew"

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank by Jurgens, Sean J., Choi, Seung Hoan, Morrill, Valerie N., Chaffin, Mark, Pirruccello, James P., Halford, Jennifer L., Weng, Lu-Chen, Nauffal, Victor, Roselli, Carolina, Hall, Amelia W., Oetjens, Matthew T., Lagerman, Braxton, vanMaanen, David P., Aragam, Krishna G., Lunetta, Kathryn L., Haggerty, Christopher M., Lubitz, Steven A., Ellinor, Patrick T.

“…Cardiometabolic diseases are the leading cause of death worldwide. Despite a known genetic component, our understanding of these diseases remains incomplete…”
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Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease by Horowitz, Julie E., Kosmicki, Jack A., Damask, Amy, Sharma, Deepika, Roberts, Genevieve H. L., Justice, Anne E., Banerjee, Nilanjana, Coignet, Marie V., Yadav, Ashish, Leader, Joseph B., Marcketta, Anthony, Park, Danny S., Lanche, Rouel, Maxwell, Evan, Knight, Spencer C., Bai, Xiaodong, Guturu, Harendra, Sun, Dylan, Baltzell, Asher, Kury, Fabricio S. P., Backman, Joshua D., Girshick, Ahna R., O’Dushlaine, Colm, McCurdy, Shannon R., Partha, Raghavendran, Mansfield, Adam J., Turissini, David A., Li, Alexander H., Zhang, Miao, Mbatchou, Joelle, Watanabe, Kyoko, Gurski, Lauren, McCarthy, Shane E., Kang, Hyun M., Dobbyn, Lee, Stahl, Eli, Verma, Anurag, Sirugo, Giorgio, Ritchie, Marylyn D., Jones, Marcus, Balasubramanian, Suganthi, Siminovitch, Katherine, Salerno, William J., Shuldiner, Alan R., Rader, Daniel J., Mirshahi, Tooraj, Locke, Adam E., Marchini, Jonathan, Overton, John D., Carey, David J., Habegger, Lukas, Cantor, Michael N., Rand, Kristin A., Hong, Eurie L., Reid, Jeffrey G., Ball, Catherine A., Baras, Aris, Abecasis, Gonçalo R., Ferreira, Manuel A. R.

“…Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells via angiotensin-converting enzyme 2 (ACE2) and causes coronavirus disease…”
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Genotyping, sequencing and analysis of 140,000 adults from Mexico City by Ziyatdinov, Andrey, Torres, Jason, Alegre-Díaz, Jesús, Backman, Joshua, Mbatchou, Joelle, Turner, Michael, Gaynor, Sheila M., Joseph, Tyler, Zou, Yuxin, Liu, Daren, Wade, Rachel, Staples, Jeffrey, Panea, Razvan, Popov, Alex, Bai, Xiaodong, Balasubramanian, Suganthi, Habegger, Lukas, Lanche, Rouel, Lopez, Alex, Maxwell, Evan, Jones, Marcus, García-Ortiz, Humberto, Ramirez-Reyes, Raul, Santacruz-Benítez, Rogelio, Nag, Abhishek, Smith, Katherine R., Damask, Amy, Lin, Nan, Paulding, Charles, Reppell, Mark, Zöllner, Sebastian, Jorgenson, Eric, Salerno, William, Petrovski, Slavé, Overton, John, Reid, Jeffrey, Thornton, Timothy A., Abecasis, Gonçalo, Berumen, Jaime, Orozco-Orozco, Lorena, Collins, Rory, Baras, Aris, Hill, Michael R., Emberson, Jonathan R., Marchini, Jonathan, Kuri-Morales, Pablo, Tapia-Conyer, Roberto

“…The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and…”
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High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease by Tcheandjieu, Catherine, Xiao, Ke, Tejeda, Helio, Lynch, Julie A., Ruotsalainen, Sanni, Bellomo, Tiffany, Palnati, Madhuri, Judy, Renae, Klarin, Derek, Kember, Rachel L., Verma, Shefali, Palotie, Aarno, Daly, Mark, Ritchie, Marylyn, Rader, Daniel J., Rivas, Manuel A., Assimes, Themistocles, Tsao, Philip, Damrauer, Scott, Priest, James R.

“…Enlargement of the aorta is an important risk factor for aortic aneurysm and dissection, a leading cause of morbidity in the developed world. Here we performed…”
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SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study by Manderstedt, Eric, Lind-Halldén, Christina, Halldén, Christer, Elf, Johan, Svensson, Peter J., Engström, Gunnar, Melander, Olle, Baras, Aris, Lotta, Luca A., Zöller, Bengt, Abecasis, Goncalo, Ferrando, Adolfo, Baras, Aris, Cantor, Michael, Coppola, Giovanni, Deubler, Andrew, Economides, Aris, Lotta, Luca A., Overton, John D., Reid, Jeffrey G., Shuldiner, Alan, Siminovitch, Katherine

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GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms by Ward, Lucas D., Tu, Ho-Chou, Quenneville, Chelsea B., Tsour, Shira, Flynn-Carroll, Alexander O., Parker, Margaret M., Deaton, Aimee M., Haslett, Patrick A. J., Lotta, Luca A., Verweij, Niek, Ferreira, Manuel A. R., Baras, Aris, Hinkle, Gregory, Nioi, Paul

“…Understanding mechanisms of hepatocellular damage may lead to new treatments for liver disease, and genome-wide association studies (GWAS) of alanine…”
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Rare coding variants in CHRNB2 reduce the likelihood of smoking by Rajagopal, Veera M., Watanabe, Kyoko, Mbatchou, Joelle, Ayer, Ariane, Quon, Peter, Sharma, Deepika, Kessler, Michael D., Praveen, Kavita, Gelfman, Sahar, Parikshak, Neelroop, Otto, Jacqueline M., Bao, Suying, Chim, Shek Man, Pavlopoulos, Elias, Avbersek, Andreja, Kapoor, Manav, Chen, Esteban, Jones, Marcus B., Leblanc, Michelle, Emberson, Jonathan, Collins, Rory, Torres, Jason, Morales, Pablo Kuri, Tapia-Conyer, Roberto, Alegre, Jesus, Berumen, Jaime, Shuldiner, Alan R., Balasubramanian, Suganthi, Abecasis, Gonçalo R., Kang, Hyun M., Marchini, Jonathan, Stahl, Eli A., Jorgenson, Eric, Sanchez, Robert, Liedtke, Wolfgang, Anderson, Matthew, Cantor, Michael, Lederer, David, Baras, Aris, Coppola, Giovanni

“…Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential to identify…”
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A deep catalogue of protein-coding variation in 983,578 individuals by Sun, Kathie Y., Bai, Xiaodong, Chen, Siying, Bao, Suying, Zhang, Chuanyi, Kapoor, Manav, Backman, Joshua, Joseph, Tyler, Maxwell, Evan, Mitra, George, Gorovits, Alexander, Mansfield, Adam, Boutkov, Boris, Gokhale, Sujit, Habegger, Lukas, Marcketta, Anthony, Locke, Adam E., Ganel, Liron, Hawes, Alicia, Kessler, Michael D., Sharma, Deepika, Staples, Jeffrey, Bovijn, Jonas, Gelfman, Sahar, Di Gioia, Alessandro, Rajagopal, Veera M., Lopez, Alexander, Varela, Jennifer Rico, Alegre-Díaz, Jesús, Berumen, Jaime, Tapia-Conyer, Roberto, Kuri-Morales, Pablo, Torres, Jason, Emberson, Jonathan, Collins, Rory, Cantor, Michael, Thornton, Timothy, Kang, Hyun Min, Overton, John D., Shuldiner, Alan R., Cremona, M. Laura, Nafde, Mona, Baras, Aris, Abecasis, Gonçalo, Marchini, Jonathan, Reid, Jeffrey G., Salerno, William, Balasubramanian, Suganthi

“…Rare coding variants that substantially affect function provide insights into the biology of a gene 1 – 3 . However, ascertaining the frequency of such…”
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Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone by Dunn, Michael E., Kithcart, Aaron, Kim, Jee Hae, Ho, Andre Jo-Hao, Franklin, Matthew C., Romero Hernandez, Annabel, de Hoon, Jan, Botermans, Wouter, Meyer, Jonathan, Jin, Ximei, Zhang, Dongqin, Torello, Justin, Jasewicz, Daniel, Kamat, Vishal, Garnova, Elena, Liu, Nina, Rosconi, Michael, Pan, Hao, Karnik, Satyajit, Burczynski, Michael E., Zheng, Wenjun, Rafique, Ashique, Nielsen, Jonas B., De, Tanima, Verweij, Niek, Pandit, Anita, Locke, Adam, Chalasani, Naga, Melander, Olle, Schwantes-An, Tae-Hwi, Baras, Aris, Lotta, Luca A., Musser, Bret J., Mastaitis, Jason, Devalaraja-Narashimha, Kishor B., Rankin, Andrew J., Huang, Tammy, Herman, Gary, Olson, William, Murphy, Andrew J., Yancopoulos, George D., Olenchock, Benjamin A., Morton, Lori

“…Heart failure is a leading cause of morbidity and mortality 1 , 2 . Elevated intracardiac pressures and myocyte stretch in heart failure trigger the release of…”
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Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes by Deaton, Aimee M., Parker, Margaret M., Ward, Lucas D., Flynn-Carroll, Alexander O., BonDurant, Lucas, Hinkle, Gregory, Akbari, Parsa, Lotta, Luca A., Baras, Aris, Nioi, Paul

“…Sequencing of large cohorts offers an unprecedented opportunity to identify rare genetic variants and to find novel contributors to human disease. We used…”
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NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke by Rodriguez-Flores, Juan Lorenzo, Khalid, Shareef, Parikshak, Neelroop, Rasheed, Asif, Ye, Bin, Kapoor, Manav, Backman, Joshua, Sepehrband, Farshid, Gioia, Silvio Alessandro Di, Gelfman, Sahar, De, Tanima, Banerjee, Nilanjana, Sharma, Deepika, Martinez, Hector, Castaneda, Sofia, D’Ambrosio, David, Zhang, Xingmin A., Xun, Pengcheng, Tsai, Ellen, Tsai, I-Chun, Khan, Maleeha Zaman, Jahanzaib, Muhammad, Mian, Muhammad Rehan, Liaqat, Muhammad Bilal, Mahmood, Khalid, Salam, Tanvir Us, Hussain, Muhammad, Iqbal, Javed, Aslam, Faizan, Cantor, Michael N., Tzoneva, Gannie, Overton, John, Marchini, Jonathan, Reid, Jeffrey G., Baras, Aris, Verweij, Niek, Lotta, Luca A., Coppola, Giovanni, Karalis, Katia, Economides, Aris, Fazio, Sergio, Liedtke, Wolfgang, Danesh, John, Kamal, Ayeesha, Frossard, Philippe, Coleman, Thomas, Shuldiner, Alan R., Saleheen, Danish

“…The genetic factors of stroke in South Asians are largely unexplored. Exome-wide sequencing and association analysis (ExWAS) in 75 K Pakistanis identified…”
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Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City by Ziyatdinov, Andrey, Torres, Jason, Alegre-Díaz, Jesús, Backman, Joshua, Mbatchou, Joelle, Turner, Michael, Gaynor, Sheila M., Joseph, Tyler, Zou, Yuxin, Liu, Daren, Wade, Rachel, Staples, Jeffrey, Panea, Razvan, Popov, Alex, Bai, Xiaodong, Balasubramanian, Suganthi, Habegger, Lukas, Lanche, Rouel, Lopez, Alex, Maxwell, Evan, Jones, Marcus, García-Ortiz, Humberto, Ramirez-Reyes, Raul, Santacruz-Benítez, Rogelio, Nag, Abhishek, Smith, Katherine R., Damask, Amy, Lin, Nan, Paulding, Charles, Reppell, Mark, Zöllner, Sebastian, Jorgenson, Eric, Salerno, William, Petrovski, Slavé, Overton, John, Reid, Jeffrey, Thornton, Timothy A., Abecasis, Gonçalo, Berumen, Jaime, Orozco-Orozco, Lorena, Collins, Rory, Baras, Aris, Hill, Michael R., Emberson, Jonathan R., Marchini, Jonathan, Kuri-Morales, Pablo, Tapia-Conyer, Roberto

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A large meta-analysis identifies genes associated with anterior uveitis by Gelfman, Sahar, Moscati, Arden, Huergo, Santiago Mendez, Wang, Rujin, Rajagopal, Veera, Parikshak, Neelroop, Pounraja, Vijay Kumar, Chen, Esteban, Leblanc, Michelle, Hazlewood, Ralph, Freudenberg, Jan, Cooper, Blerta, Ligocki, Ann J., Miller, Charles G., Van Zyl, Tavé, Weyne, Jonathan, Romano, Carmelo, Sagdullaev, Botir, Melander, Olle, Baras, Aris, Stahl, Eli A., Coppola, Giovanni

“…Anterior Uveitis (AU) is the inflammation of the anterior part of the eye, the iris and ciliary body and is strongly associated with HLA-B*27 . We report AU…”
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Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank by Jurgens, Sean J, Choi, Seung Hoan, Morrill, Valerie N, Chaffin, Mark, Pirruccello, James P, Halford, Jennifer L, Weng, Lu-Chen, Nauffal, Victor, Roselli, Carolina, Hall, Amelia W, Oetjens, Matthew T, Lagerman, Braxton, Vanmaanen, David P, Aragam, Krishna G, Lunetta, Kathryn L, Haggerty, Christopher M, Lubitz, Steven A, Ellinor, Patrick T, Abecasis, Goncalo, Bai, Xiaodong, Balasubramanian, Suganthi, Baras, Aris, Beechert, Christina, Boutkov, Boris, Cantor, Michael, Coppola, Giovanni, De, Tanima, Deubler, Andrew, Economides, Aris, Eom, Gisu, Ferreira, Manuel A R, sythe, Caitlin, Fuller, Erin D, Gu, Zhenhua, Habegger, Lukas, Hawes, Alicia, Jones, Marcus B, Karalis, Katia, Khalid, Shareef, Krasheninina, Olga, Lanche, Rouel, Lattari, Michael, Li, Dadong, Lopez, Alexander, Lotta, Luca A, Manoochehri, Kia, Mansfield, Adam J, Maxwell, Evan K, Mighty, Jason, Mitnaul, Lyndon J, Nafde, Mona, Nielsen, Jonas, O'Keeffe, Sean, Orelus, Max, Overton, John D, Padilla, Maria Sotiropoulos, Panea, Razvan, Polanco, Tommy, Pradhan, Manasi, Rasool, Ayesha, Reid, Jeffrey G, Salerno, William, Schleicher, Thomas D, Shuldiner, Alan, Siminovitch, Katherine, Staples, Jeffrey C, Ulloa, Ricardo H, Verweij, Niek, Widom, Louis, Wolf, Sarah E

“…[...]exome sequencing-which is focused on the protein-coding regions of the genome-may directly implicate genes in phenotype variability through burden testing…”
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Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies by Cavazos, Taylor B, Kachuri, Linda, Graff, Rebecca E, Nierenberg, Jovia L, Thai, Khanh K, Alexeeff, Stacey, Van Den Eeden, Stephen, Corley, Douglas A, Kushi, Lawrence H, Hoffmann, Thomas J, Ziv, Elad, Habel, Laurel A, Jorgenson, Eric, Sakoda, Lori C, Witte, John S

“…Up to one of every six individuals diagnosed with one cancer will be diagnosed with a second primary cancer in their lifetime. Genetic factors contributing to…”
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Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions by Xiao, Brenda, Velez Edwards, Digna R, Lucas, Anastasia, Drivas, Theodore, Gray, Kathryn, Keating, Brendan, Weng, Chunhua, Jarvik, Gail P, Hakonarson, Hakon, Kottyan, Leah, Elhadad, Noemie, Wei, Wei-Qi, Luo, Yuan, Kim, Dokyoon, Ritchie, Marylyn, Verma, Shefali Setia

“…Background Cardiometabolic diseases are highly comorbid, but their relationship with female-specific or overwhelmingly female-predominant health conditions…”
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Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers by Wineland, Dylane, Le, Anh N, Hausler, Ryan, Kelly, Gregory, Barrett, Emanuel, Desai, Heena, Wubbenhorst, Bradley, Pluta, John, Bastian, Paul, Symecko, Heather, D'Andrea, Kurt, Doucette, Abigail, Gabriel, Peter, Reiss, Kim A, Nayak, Anupma, Feldman, Michael, Domchek, Susan M, Nathanson, Katherine L, Maxwell, Kara N

“…Breast and ovarian tumors in germline carriers undergo allele-specific loss of heterozygosity, resulting in homologous recombination deficiency (HRD) and…”
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Population-scale analysis of common and rare genetic variation associated with hearing loss in adults by Praveen, Kavita, Dobbyn, Lee, Gurski, Lauren, Ayer, Ariane H., Staples, Jeffrey, Mishra, Shawn, Bai, Yu, Kaufman, Alexandra, Moscati, Arden, Benner, Christian, Chen, Esteban, Chen, Siying, Popov, Alexander, Smith, Janell, Melander, Olle, Jones, Marcus B., Marchini, Jonathan, Balasubramanian, Suganthi, Zambrowicz, Brian, Drummond, Meghan C., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A., Stahl, Eli A., Coppola, Giovanni

“…To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five…”
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ANGPTL7, a therapeutic target for increased intraocular pressure and glaucoma by Praveen, Kavita, Patel, Gaurang C., Gurski, Lauren, Ayer, Ariane H., Persaud, Trikaladarshi, Still, Matthew D., Miloscio, Lawrence, Van Zyl, Tavé, Di Gioia, Silvio Alessandro, Brumpton, Ben, Krebs, Kristi, Åsvold, Bjørn Olav, Chen, Esteban, Chavali, Venkata R. M., Fury, Wen, Gudiseva, Harini V., Hyde, Sarah, Jorgenson, Eric, Lefebvre, Stephanie, Li, Dadong, Li, Alexander, Mclninch, James, Patel, Brijeshkumar, Rabinowitz, Jeremy S., Salowe, Rebecca, Schurmann, Claudia, Seidelin, Anne-Sofie, Stahl, Eli, Sun, Dylan, Teslovich, Tanya M., Tybjærg-Hansen, Anne, Willer, Cristen, Waldron, Scott, Walley, Sabrina, Yang, Hua, Zaveri, Sarthak, Hu, Ying, Hveem, Kristian, Melander, Olle, Milani, Lili, Stender, Stefan, O’Brien, Joan M., Jones, Marcus B., Abecasis, Gonçalo R., Cantor, Michael N., Weyne, Jonathan, Karalis, Katia, Economides, Aris, Della Gatta, Giusy, Ferreira, Manuel A., Yancopoulos, George D., Baras, Aris, Romano, Carmelo, Coppola, Giovanni

“…Glaucoma is a leading cause of blindness. Current glaucoma medications work by lowering intraocular pressure (IOP), a risk factor for glaucoma, but most…”
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PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients by Cappadocia, Jacqueline, Aiello, Lisa B., Kelley, Michael J., Katona, Bryson W., Verma, Anurag, Brock, Ashlei, DerOhannessian, Stephanie, Dudek, Scott, Drivas, Theodore, Haubein, Ned, Hu-Sain, Khadijah, Judy, Renae, Ko, Yi-An, Livingstone, Meghan, Morrel, Linda, Morse, Colleen, Risman, Marjorie, Tran, Teo, Vadivieso, Fred, Weaver, JoEllen, Rader, Daniel J., Ritchie, Marylyn D., Feldman, Michael D., Beechert, Christina, Fuller, Erin D., Lopez, Alexander, Overton, John D., Padilla, Maria Sotiropoulos, Manoochehri, Kia, Schleicher, Thomas D., Widom, Louis, Wolf, Sarah E., Banerjee, Nilanjana, Cantor, Michael, Li, Dadong, Malhotra, Sameer, Sharma, Deepika, Staples, Jeffrey, Bai, Xiaodong, Bao, Suying, Eom, Gisu, Habegger, Lukas, Hawes, Alicia, Lanche, Rouel, Mansfield, Adam J., Maxwell, Evan K., O’Keeffe, Sean, Orelus, Max, Panea, Razvan, Polanco, Tommy, Rasool, Ayesha, Salerno, William, Staples, Jeffrey C., Sun, Kathie, Backman, Joshua, Damask, Amy, Ferreira, Manuel Allen Revez, Ghosh, Arkopravo, Gurski, Lauren, Jorgenson, Eric, Kang, Hyun Min, Kessler, Michael, Kosmicki, Jack, Li, Alexander, Lin, Nan, Locke, Adam, Mbatchou, Joelle, Moscati, Arden, Paulding, Charles, Sidore, Carlo, Stahl, Eli, Ye, Bin, Coppola, Giovanni, Bovijn, Jonas, Siminovitch, Katherine, Praveen, Kavita, Lotta, Luca A., Kapoor, Manav, Verweij, Niek, Sosina, Olukayode, Akbari, Parsa, Nakka, Priyanka, Gokhale, Sujit, De, Tanima, Rajagopal, Veera, Shuldiner, Alan, Tzoneva, Gannie, Rodriguez-Flores, Juan, Jones, Marcus B., LeBlanc, Michelle G., Mighty, Jason, Mitnaul, Lyndon J., Nishtala, Nirupama, Rana, Nadia, Hernandez, Jaimee, Abecasis, Goncalo, Baras, Aris, Deubler, Andrew, Economides, Aris, Lotta, Luca A.

“…This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2…”
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