Search Results - "Nafde, Mona"

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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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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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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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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