Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels

por Tin, Adrienne, Li, Yong, Brody, Jennifer A., Nutile, Teresa, Chu, Audrey Y., Huffman, Jennifer E., Yang, Qiong, Chen, Ming-Huei, Robinson-Cohen, Cassianne, Macé, Aurélien, Liu, Jun, Demirkan, Ayşe, Sorice, Rossella, Sedaghat, Sanaz, Swen, Melody, Yu, Bing, Ghasemi, Sahar, Teumer, Alexanda, Vollenweider, Peter, Ciullo, Marina, Li, Meng, Uitterlinden, André G., Kraaij, Robert, Amin, Najaf, van Rooij, Jeroen, Kutalik, Zoltán, Dehghan, Abbas, McKnight, Barbara, van Duijn, Cornelia M., Morrison, Alanna, Psaty, Bruce M., Boerwinkle, Eric, Fox, Caroline S., Woodward, Owen M., Köttgen, Anna
Publicado 2018

Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor

por Schienda, Jaclyn, Church, Alanna J., Corson, Laura B., Decker, Brennan, Clinton, Catherine M., Manning, Danielle K., Imamovic-Tuco, Alma, Reidy, Deirdre, Strand, Gianna R., Applebaum, Mark A., Bagatell, Rochelle, DuBois, Steven G., Glade-Bender, Julia L., Kang, Wenjun, Kim, AeRang, Laetsch, Theodore W., Macy, Margaret E., Maese, Luke, Pinto, Navin, Sabnis, Amit J., Schiffman, Joshua D., Colace, Susan I., Volchenboum, Samuel L., Weiser, Daniel A., Nowak, Jonathan A., Lindeman, Neal I., Janeway, Katherine A., Crompton, Brian D., Kamihara, Junne
Publicado 2021

Disruption in Blood Pressure Control With the COVID-19 Pandemic: The PCORnet Blood Pressure Control Laboratory

por Chamberlain, Alanna M., Cooper-DeHoff, Rhonda M., Fontil, Valy, Nilles, Ester Kim, Shaw, Kathryn M., Smith, Myra, Lin, Feng, Vittinghoff, Eric, Maeztu, Carlos, Todd, Jonathan V., Carton, Thomas, O’Brien, Emily C., Faulkner Modrow, Madelaine, Wozniak, Gregory, Rakotz, Michael, Sanchez, Eduardo, Smith, Steven M., Polonsky, Tamar S., Ahmad, Faraz S., Liu, Mei, McClay, James C., VanWormer, Jeffrey J., Taylor, Bradley W., Chrischilles, Elizabeth A., Wu, Shenghui, Viera, Anthony J., Ford, Daniel E., Hwang, Wenke, Knowlton, Kirk U., Pletcher, Mark J.
Publicado 2023

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

por Lynch, John A., Sharp, Richard R., Aufox, Sharon A., Bland, Sarah T., Blout, Carrie, Bowen, Deborah J., Buchanan, Adam H., Halverson, Colin, Harr, Margaret, Hebbring, Scott J., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Jarvik, Gail, Kullo, Iftikhar J., Kochan, David C., Larson, Eric B., Lazzeri, Amanda, Leppig, Kathleen A., Madden, Jill, Marasa, Maddalena, Myers, Melanie F., Peterson, Josh, Prows, Cynthia A., Kulchak Rahm, Alanna, Ralston, James, Milo Rasouly, Hila, Scrol, Aaron, Smith, Maureen E., Sturm, Amy, Stuttgen, Kelsey, Wiesner, Georgia, Williams, Marc S., Wynn, Julia, Williams, Janet L.
Publicado 2020

The genomic landscape of rare disorders in the Middle East

por El Naofal, Maha, Ramaswamy, Sathishkumar, Alsarhan, Ali, Nugud, Ahmed, Sarfraz, Fatima, Janbaz, Hiba, Taylor, Alan, Jain, Ruchi, Halabi, Nour, Yaslam, Sawsan, Alfalasi, Roudha, Shenbagam, Shruti, Rabea, Fatma, Bitzan, Martin, Yavuz, Lemis, Wafadari, Deena, Abulhoul, Hamda, Shankar, Shiva, Al Maazmi, Munira, Rizk, Ruba, Alloub, Zeinab, Elbashir, Haitham, Babiker, Mohamed O. E., Chencheri, Nidheesh, AlBanna, Ammar, Sultan, Meshal, El Bitar, Mohamed, Kherani, Safeena, Thalange, Nandu, Alshryda, Sattar, Di Donato, Roberto, Tzivinikos, Christos, Majid, Ibrar, Freeman, Alexandra F., Gonzalez, Corina, Khan, Arif O., Hamdan, Hisham, Abuhammour, Walid, AlAwadhi, Mohamed, AlKhayat, Abdulla, Alsheikh-Ali, Alawi, Abou Tayoun, Ahmad N.
Publicado 2023

Association of Dual-Task Gait Cost and White Matter Hyperintensity Burden Poststroke: Results From the ONDRI

por Pieruccini-Faria, Frederico, Cornish, Benjamin, Binns, Malcolm, Fraser, Julia, Haddad, Seyyed M. H., Sunderland, Kelly, Ramirez, Joel, Beaton, Derek, Kwan, Donna, Dilliott, Allison A., Scott, Christopher, Sarquis-Adamson, Yanina, Black, Alanna, Van Ooteghem, Karen, Casaubon, Leanne, Dowlatshahi, Dar, Hassan, Ayman, Mandzia, Jennifer, Sahlas, Demetrios, Saposnik, Gustavo, Tan, Brian, Hegele, Robert, Bulman, Dennis, Ghani, Mahdi, Robinson, John, Rogaeva, Ekaterina, Farhan, Sali, Symons, Sean, Nanayakkara, Nuwan, Arnott, Stephen R., Berezuk, Courtney, Holmes, Melissa, Adamo, Sabrina, Ozzoude, Miracle, Zamyadi, Mojdeh, Lou, Wendy, Sujanthan, Sujeevini, Bartha, Robert, Black, Sandra E., Swartz, Richard H., McIlroy, William, Montero-Odasso, Manuel
Publicado 2023

Simple Risk Model Predicts Incidence of Atrial Fibrillation in a Racially and Geographically Diverse Population: the CHARGE‐AF Consortium

por Alonso, Alvaro, Krijthe, Bouwe P., Aspelund, Thor, Stepas, Katherine A., Pencina, Michael J., Moser, Carlee B., Sinner, Moritz F., Sotoodehnia, Nona, Fontes, João D., Janssens, A. Cecile J. W., Kronmal, Richard A., Magnani, Jared W., Witteman, Jacqueline C., Chamberlain, Alanna M., Lubitz, Steven A., Schnabel, Renate B., Agarwal, Sunil K., McManus, David D., Ellinor, Patrick T., Larson, Martin G., Burke, Gregory L., Launer, Lenore J., Hofman, Albert, Levy, Daniel, Gottdiener, John S., Kääb, Stefan, Couper, David, Harris, Tamara B., Soliman, Elsayed Z., Stricker, Bruno H. C., Gudnason, Vilmundur, Heckbert, Susan R., Benjamin, Emelia J.
Publicado 2013

Integrated genetic and pharmacologic interrogation of rare cancers

por Hong, Andrew L., Tseng, Yuen-Yi, Cowley, Glenn S., Jonas, Oliver, Cheah, Jaime H., Kynnap, Bryan D., Doshi, Mihir B., Oh, Coyin, Meyer, Stephanie C., Church, Alanna J., Gill, Shubhroz, Bielski, Craig M., Keskula, Paula, Imamovic, Alma, Howell, Sara, Kryukov, Gregory V., Clemons, Paul A., Tsherniak, Aviad, Vazquez, Francisca, Crompton, Brian D., Shamji, Alykhan F., Rodriguez-Galindo, Carlos, Janeway, Katherine A., Roberts, Charles W. M., Stegmaier, Kimberly, van Hummelen, Paul, Cima, Michael J., Langer, Robert S., Garraway, Levi A., Schreiber, Stuart L., Root, David E., Hahn, William C., Boehm, Jesse S.
Publicado 2016

Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

por Buchanan, Adam H, Manickam, Kandamurugu, Meyer, Michelle N, Wagner, Jennifer K, Hallquist, Miranda L G, Williams, Janet L, Rahm, Alanna Kulchak, Williams, Marc S, Chen, Zong-Ming E, Shah, Chaitali K, Garg, Tullika K, Lazzeri, Amanda L, Schwartz, Marci L B, Lindbuchler, D'Andra M, Fan, Audrey L, Leeming, Rosemary, Servano, Pedro O, Smith, Ashlee L, Vogel, Victor G, Abul-Husn, Noura S, Dewey, Frederick E, Lebo, Matthew S, Mason-Suares, Heather M, Ritchie, Marylyn D, Davis, F Daniel, Carey, David J, Feinberg, David T, Faucett, W Andrew, Ledbetter, David H, Murray, Michael F
Publicado 2017

Polyamines and eIF5A Hypusination Modulate Mitochondrial Respiration and Macrophage Activation

por Puleston, Daniel J., Buck, Michael D., Klein Geltink, Ramon I., Kyle, Ryan L., Caputa, George, O’Sullivan, David, Cameron, Alanna M., Castoldi, Angela, Musa, Yaarub, Kabat, Agnieszka M., Zhang, Ying, Flachsmann, Lea J., Field, Cameron S., Patterson, Annette E., Scherer, Stefanie, Alfei, Francesca, Baixauli, Francesc, Austin, S. Kyle, Kelly, Beth, Matsushita, Mai, Curtis, Jonathan D., Grzes, Katarzyna M., Villa, Matteo, Corrado, Mauro, Sanin, David E., Qiu, Jing, Pällman, Nora, Paz, Katelyn, Maccari, Maria Elena, Blazar, Bruce R., Mittler, Gerhard, Buescher, Joerg M., Zehn, Dietmar, Rospert, Sabine, Pearce, Edward J., Balabanov, Stefan, Pearce, Erika L.
Publicado 2019

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

por Wiesner, Georgia L., Kulchak Rahm, Alanna, Appelbaum, Paul, Aufox, Sharon, Bland, Sarah T., Blout, Carrie L., Christensen, Kurt D., Chung, Wendy K., Clayton, Ellen Wright, Green, Robert C., Harr, Margaret H., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Jarvik, Gail P., Kullo, Iftikhar J., Lammers, Philip E., Larson, Eric B., Lindor, Noralane M., Marasa, Maddalena, F. Myers, Melanie, Peterson, Josh F., Prows, Cynthia A., Ralston, James D., Milo Rasouly, Hila, Sharp, Richard R., Smith, Maureen E., Van Driest, Sara L., Williams, Janet L., Williams, Marc S., Wynn, Julia, Leppig, Kathleen A.
Publicado 2020

BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion

por Sofer, Tamar, Lee, Jiwon, Kurniansyah, Nuzulul, Jain, Deepti, Laurie, Cecelia A., Gogarten, Stephanie M., Conomos, Matthew P., Heavner, Ben, Hu, Yao, Kooperberg, Charles, Haessler, Jeffrey, Vasan, Ramachandran S., Cupples, L. Adrienne, Coombes, Brandon J., Seyerle, Amanda, Gharib, Sina A., Chen, Han, O’Connell, Jeffrey R., Zhang, Man, Gottlieb, Daniel J., Psaty, Bruce M., Longstreth, W.T., Rotter, Jerome I., Taylor, Kent D., Rich, Stephen S., Guo, Xiuqing, Boerwinkle, Eric, Morrison, Alanna C., Pankow, James S., Johnson, Andrew D., Pankratz, Nathan, Reiner, Alex P., Redline, Susan, Smith, Nicholas L., Rice, Kenneth M., Schifano, Elizabeth D.
Publicado 2021

Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants

por Buchanan, Adam H., Manickam, Kandamurugu, Meyer, Michelle N., Wagner, Jennifer K., Hallquist, Miranda L. G., Williams, Janet L., Rahm, Alanna Kulchak, Williams, Marc S., Chen, Zong-Ming E., Shah, Chaitali K., Garg, Tullika K., Lazzeri, Amanda L., Schwartz, Marci L. B., Lindbuchler, D’ Andra M., Fan, Audrey L., Leeming, Rosemary, Servano, Pedro O., Smith, Ashlee L., Vogel, Victor G., Abul-Husn, Noura S., Dewey, Frederick E., Lebo, Matthew S., Mason-Suares, Heather M., Ritchie, Marylyn D., Davis, F. Daniel, Carey, David J., Feinberg, David T., Faucett, W. Andrew, Ledbetter, David H., Murray, Michael F.
Publicado 2021

A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood

por Kurniansyah, Nuzulul, Goodman, Matthew O., Kelly, Tanika N., Elfassy, Tali, Wiggins, Kerri L., Bis, Joshua C., Guo, Xiuqing, Palmas, Walter, Taylor, Kent D., Lin, Henry J., Haessler, Jeffrey, Gao, Yan, Shimbo, Daichi, Smith, Jennifer A., Yu, Bing, Feofanova, Elena V., Smit, Roelof A. J., Wang, Zhe, Hwang, Shih-Jen, Liu, Simin, Wassertheil-Smoller, Sylvia, Manson, JoAnn E., Lloyd-Jones, Donald M., Rich, Stephen S., Loos, Ruth J. F., Redline, Susan, Correa, Adolfo, Kooperberg, Charles, Fornage, Myriam, Kaplan, Robert C., Psaty, Bruce M., Rotter, Jerome I., Arnett, Donna K., Morrison, Alanna C., Franceschini, Nora, Levy, Daniel, Sofer, Tamar
Publicado 2022

Study protocol for Attachment & Child Health (ATTACH(TM)) program: promoting vulnerable Children’s health at scale

por Anis, Lubna, Letourneau, Nicole, Ross, Kharah M., Hart, Martha, Graham, Ian, Lalonde, Simone, Varro, Suzanna, Baldwin, Alanna, Soulsby, Angela, Majnemer, Annette, Donnelly, Carlene, Piotrowski, Caroline, Collier, Carrie, Lindeman, Cliff, Goldowitz, Dan, Isaac, Dawn, Thomson, Denise, Serré, Diane, Citro, Elisabeth, Zimmermann, Gabrielle, Pliszka, Harold, Mann, Jackie, Baumann, Janine, Piekarski, Joanna, Dalton, Jo-Anne, Johnson-Green, Joy, Wood, Karen, Bruce, Marcia, Santana, Maria, Mayer, Matt, Gould, Meghan, Kobor, Michael, Flowers, Michelle, Haywood, Michelle, Koerner, Michelle, Parker, Nancy, Muhajarine, Nazeem, Fairie, Paul, Chrishti, Rabea, Perry, Robert, Merrill, Sarah, Pociuk, Shellie, StephanieTaylor, Cole, Steve, Murphy, Tim, Marchment, Tmira, Xavier, Virginia, Shajani, Zahra, West, Zoe
Publicado 2022

Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups

por Kurniansyah, Nuzulul, Goodman, Matthew O., Khan, Alyna T., Wang, Jiongming, Feofanova, Elena, Bis, Joshua C., Wiggins, Kerri L., Huffman, Jennifer E., Kelly, Tanika, Elfassy, Tali, Guo, Xiuqing, Palmas, Walter, Lin, Henry J., Hwang, Shih-Jen, Gao, Yan, Young, Kendra, Kinney, Gregory L., Smith, Jennifer A., Yu, Bing, Liu, Simin, Wassertheil-Smoller, Sylvia, Manson, JoAnn E., Zhu, Xiaofeng, Chen, Yii-Der Ida, Lee, I-Te, Gu, C. Charles, Lloyd-Jones, Donald M., Zöllner, Sebastian, Fornage, Myriam, Kooperberg, Charles, Correa, Adolfo, Psaty, Bruce M., Arnett, Donna K., Isasi, Carmen R., Rich, Stephen S., Kaplan, Robert C., Redline, Susan, Mitchell, Braxton D., Franceschini, Nora, Levy, Daniel, Rotter, Jerome I., Morrison, Alanna C., Sofer, Tamar
Publicado 2023

Renal medullary carcinomas depend upon SMARCB1 loss and are sensitive to proteasome inhibition

por Hong, Andrew L, Tseng, Yuen-Yi, Wala, Jeremiah A, Kim, Won-Jun, Kynnap, Bryan D, Doshi, Mihir B, Kugener, Guillaume, Sandoval, Gabriel J, Howard, Thomas P, Li, Ji, Yang, Xiaoping, Tillgren, Michelle, Ghandi, Mahmhoud, Sayeed, Abeer, Deasy, Rebecca, Ward, Abigail, McSteen, Brian, Labella, Katherine M, Keskula, Paula, Tracy, Adam, Connor, Cora, Clinton, Catherine M, Church, Alanna J, Crompton, Brian D, Janeway, Katherine A, Van Hare, Barbara, Sandak, David, Gjoerup, Ole, Bandopadhayay, Pratiti, Clemons, Paul A, Schreiber, Stuart L, Root, David E, Gokhale, Prafulla C, Chi, Susan N, Mullen, Elizabeth A, Roberts, Charles WM, Kadoch, Cigall, Beroukhim, Rameen, Ligon, Keith L, Boehm, Jesse S, Hahn, William C
Publicado 2019

Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing

por Floyd, James S., Bloch, Katarzyna M., Brody, Jennifer A., Maroteau, Cyrielle, Siddiqui, Moneeza K., Gregory, Richard, Carr, Daniel F., Molokhia, Mariam, Liu, Xiaoming, Bis, Joshua C., Ahmed, Ammar, Liu, Xuan, Hallberg, Pär, Yue, Qun-Ying, Magnusson, Patrik K. E., Brisson, Diane, Wiggins, Kerri L., Morrison, Alanna C., Khoury, Etienne, McKeigue, Paul, Stricker, Bruno H., Lapeyre-Mestre, Maryse, Heckbert, Susan R., Gallagher, Arlene M., Chinoy, Hector, Gibbs, Richard A., Bondon-Guitton, Emmanuelle, Tracy, Russell, Boerwinkle, Eric, Gaudet, Daniel, Conforti, Anita, van Staa, Tjeerd, Sitlani, Colleen M., Rice, Kenneth M., Maitland-van der Zee, Anke-Hilse, Wadelius, Mia, Morris, Andrew P., Pirmohamed, Munir, Palmer, Colin A. N., Psaty, Bruce M., Alfirevic, Ana
Publicado 2019

A molecularly engineered, broad-spectrum anti-coronavirus lectin inhibits SARS-CoV-2 and MERS-CoV infection in vivo

por Chan, Jasper Fuk-Woo, Oh, Yoo Jin, Yuan, Shuofeng, Chu, Hin, Yeung, Man-Lung, Canena, Daniel, Chan, Chris Chung-Sing, Poon, Vincent Kwok-Man, Chan, Chris Chun-Yiu, Zhang, Anna Jinxia, Cai, Jian-Piao, Ye, Zi-Wei, Wen, Lei, Yuen, Terrence Tsz-Tai, Chik, Kenn Ka-Heng, Shuai, Huiping, Wang, Yixin, Hou, Yuxin, Luo, Cuiting, Chan, Wan-Mui, Qin, Zhenzhi, Sit, Ko-Yung, Au, Wing-Kuk, Legendre, Maureen, Zhu, Rong, Hain, Lisa, Seferovic, Hannah, Tampé, Robert, To, Kelvin Kai-Wang, Chan, Kwok-Hung, Thomas, Dafydd Gareth, Klausberger, Miriam, Xu, Cheng, Moon, James J., Stadlmann, Johannes, Penninger, Josef M., Oostenbrink, Chris, Hinterdorfer, Peter, Yuen, Kwok-Yung, Markovitz, David M.
Publicado 2022

Radiation and Dust Sensor for Mars Environmental Dynamic Analyzer Onboard M2020 Rover

por Apestigue, Victor, Gonzalo, Alejandro, Jiménez, Juan J., Boland, Justin, Lemmon, Mark, de Mingo, Jose R., García-Menendez, Elisa, Rivas, Joaquín, Azcue, Joaquín, Bastide, Laurent, Andrés-Santiuste, Nuria, Martínez-Oter, Javier, González-Guerrero, Miguel, Martin-Ortega, Alberto, Toledo, Daniel, Alvarez-Rios, Francisco Javier, Serrano, Felipe, Martín-Vodopivec, Boris, Manzano, Javier, López Heredero, Raquel, Carrasco, Isaías, Aparicio, Sergio, Carretero, Ángel, MacDonald, Daniel R., Moore, Lori B., Alcacera, María Ángeles, Fernández-Viguri, Jose A., Martín, Israel, Yela, Margarita, Álvarez, Maite, Manzano, Paula, Martín, Jose A., del Hoyo, Juan C., Reina, Manuel, Urqui, Roser, Rodriguez-Manfredi, Jose A., de la Torre Juárez, Manuel, Hernandez, Christina, Cordoba, Elizabeth, Leiter, Robin, Thompson, Art, Madsen, Soren, Smith, Michael D., Viúdez-Moreiras, Daniel, Saiz-Lopez, Alfonso, Sánchez-Lavega, Agustín, Gomez-Martín, Laura, Martínez, Germán M., Gómez-Elvira, Francisco J., Arruego, Ignacio
Publicado 2022