A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies

por Li, Xihao, Chen, Han, Selvaraj, Margaret Sunitha, Van Buren, Eric, Zhou, Hufeng, Wang, Yuxuan, Sun, Ryan, McCaw, Zachary R., Yu, Zhi, Arnett, Donna K., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Carson, April P., Carlson, Jenna C., Chami, Nathalie, Chen, Yii-Der Ida, Curran, Joanne E., de Vries, Paul S., Fornage, Myriam, Franceschini, Nora, Freedman, Barry I., Gu, Charles, Heard-Costa, Nancy L., He, Jiang, Hou, Lifang, Hung, Yi-Jen, Irvin, Marguerite R., Kaplan, Robert C., Kardia, Sharon L.R., Kelly, Tanika, Konigsberg, Iain, Kooperberg, Charles, Kral, Brian G., Li, Changwei, Loos, Ruth J.F., Mahaney, Michael C., Martin, Lisa W., Mathias, Rasika A., Minster, Ryan L., Mitchell, Braxton D., Montasser, May E., Morrison, Alanna C., Palmer, Nicholette D., Peyser, Patricia A., Psaty, Bruce M., Raffield, Laura M., Redline, Susan, Reiner, Alexander P., Rich, Stephen S., Sitlani, Colleen M., Smith, Jennifer A., Taylor, Kent D., Tiwari, Hemant, Vasan, Ramachandran S., Wang, Zhe, Yanek, Lisa R., Yu, Bing, Rice, Kenneth M., Rotter, Jerome I., Peloso, Gina M., Natarajan, Pradeep, Li, Zilin, Liu, Zhonghua, Lin, Xihong
Publicado 2023

Gender differences in the surgical management of trachomatous trichiasis: an exploratory analysis of global trachoma survey data, 2015–2019

por Sullivan, Kristin M, Harding-Esch, Emma M, Batcho, Wilfrid E, Issifou, Amadou A Bio, Lopes, Maria de Fátima Costa, Szwarcwald, Celia Landmann, Vaz Ferreira Gomez, Daniela, Bougouma, Clarisse, Christophe, Nassa, Kabore, Martin, Bucumi, Victor, Bella, Assumpta L, Epee, Emilienne, Yaya, Georges, Trujillo-Trujillo, Julian, Dejene, Michael, Gebretsadik, Fikre Seife, Gebru, Genet, Kebede, Fikreab, Mathewos, Tsedeke, Cassama, Eunice Texiera de Silva, Sanha, Salimato, Barasa, Ernest, Sultani, Hadley Matendechero, Watitu, Titus, Tekeraoi, Rabebe, Kalua, Khumbo M, Masika, Michael P, Traoré, Lamine, Minnih, Abdallahi O, Abdala, Mariamo, Massangaie, Marília E, Win, Ye, Apadinuwe, Sue-Chen, Mishra, Sailesh Kumar, Sharma, Shekhar, Amza, Abdou, Kadri, Boubacar, Nassirou, Beido, Mpyet, Caleb D, Olobio, Nicholas, Hussain, Arif, Khan, Asad Aslam, Jambi, Garap, Ko, Robert, Kello, Amir B, Badiane, Mouctar D, Sarr, Boubacar, Dalmar, Abdi, Elshafie, Balgesa E, Kabona, George E, Kaitaba, Oscar, Mwingira, Upendo, Simon, Alistidia, Kanyi, Sarjo, Awoussi, Marcel S, Togbey, Kwamy, Baayenda, Gilbert, Francis, Mugume, Tukahebwa, Edridah M, Bakhtiari, Ana, Keil, Alexander P, Maselko, Joanna, Westreich, Daniel, Garae, Mackline, Taleo, Fasiah, Al-Khateeb, Tawfik Q, Mwale, Consity, Solomon, Anthony W, Gower, Emily W
Publicado 2023

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

por Guo, Hui, Li, Ying, Shen, Lu, Wang, Tianyun, Jia, Xiangbin, Liu, Lijuan, Xu, Tao, Ou, Mengzhu, Hoekzema, Kendra, Wu, Huidan, Gillentine, Madelyn A., Liu, Cenying, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Zhang, Yu, Phornphutkul, Chanika, Stegmann, Alexander P. A., Prada, Carlos E., Hopkin, Robert J., Shieh, Joseph T., McWalter, Kirsty, Monaghan, Kristin G., van Hasselt, Peter M., van Gassen, Koen, Bai, Ting, Long, Min, Han, Lin, Quan, Yingting, Chen, Meilin, Zhang, Yaowen, Li, Kuokuo, Zhang, Qiumeng, Tan, Jieqiong, Zhu, Tengfei, Liu, Yaning, Pang, Nan, Peng, Jing, Scott, Daryl A., Lalani, Seema R., Azamian, Mahshid, Mancini, Grazia M. S., Adams, Darius J., Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Pevsner, Jonathan, Osei-Owusu, Ikeoluwa A., Romano, Corrado, Calabrese, Giuseppe, Galesi, Ornella, Gecz, Jozef, Haan, Eric, Ranells, Judith, Racobaldo, Melissa, Nordenskjold, Magnus, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Ball, Susie, Zou, Xiaobing, Zhao, Jingping, Hu, Zhengmao, Xia, Fan, Liu, Pengfei, Rosenfeld, Jill A., de Vries, Bert B. A., Bernier, Raphael A., Xu, Zhi-Qing David, Li, Honghui, Xie, Wei, Hufnagel, Robert B., Eichler, Evan E., Xia, Kun
Publicado 2019

RELEASE: a protocol for a systematic review based, individual participant data, meta- and network meta-analysis, of complex speech-language therapy interventions for stroke-related...

por Brady, Marian C., Ali, Myzoon, VandenBerg, Kathryn, Williams, Linda J., Williams, Louise R., Abo, Masahiro, Becker, Frank, Bowen, Audrey, Brandenburg, Caitlin, Breitenstein, Caterina, Bruehl, Stefanie, Copland, David A., Cranfill, Tamara B., Pietro-Bachmann, Marie di, Enderby, Pamela, Fillingham, Joanne, Galli, Federica Lucia, Gandolfi, Marialuisa, Glize, Bertrand, Godecke, Erin, Hawkins, Neil, Hilari, Katerina, Hinckley, Jacqueline, Horton, Simon, Howard, David, Jaecks, Petra, Jefferies, Elizabeth, Jesus, Luis M. T., Kambanaros, Maria, Kang, Eun Kyoung, Khedr, Eman M., Kong, Anthony Pak-Hin, Kukkonen, Tarja, Laganaro, Marina, Ralph, Matthew A. Lambon, Laska, Ann Charlotte, Leemann, Béatrice, Leff, Alexander P., Lima, Roxele R., Lorenz, Antje, MacWhinney, Brian, Marshall, Rebecca Shisler, Mattioli, Flavia, Maviş, ilknur, Meinzer, Marcus, Nilipour, Reza, Noé, Enrique, Paik, Nam-Jong, Palmer, Rebecca, Papathanasiou, Ilias, Patricio, Brigida F., Martins, Isabel Pavão, Price, Cathy, Jakovac, Tatjana Prizl, Rochon, Elizabeth, Rose, Miranda L., Rosso, Charlotte, Rubi-Fessen, Ilona, Ruiter, Marina B., Snell, Claerwen, Stahl, Benjamin, Szaflarski, Jerzy P., Thomas, Shirley A., van de Sandt-Koenderman, Mieke, van der Meulen, Ineke, Visch-Brink, Evy, Worrall, Linda, Wright, Heather Harris
Publicado 2020

Precision rehabilitation for aphasia by patient age, sex, aphasia severity, and time since stroke? A prespecified, systematic review-based, individual participant data, network, su...

por Brady, Marian C, Ali, Myzoon, VandenBerg, Kathryn, Williams, Linda J, Williams, Louise R, Abo, Masahiro, Becker, Frank, Bowen, Audrey, Brandenburg, Caitlin, Breitenstein, Caterina, Bruehl, Stefanie, Copland, David A, Cranfill, Tamara B, Pietro-Bachmann, Marie di, Enderby, Pamela, Fillingham, Joanne, Lucia Galli, Federica, Gandolfi, Marialuisa, Glize, Bertrand, Godecke, Erin, Hawkins, Neil, Hilari, Katerina, Hinckley, Jacqueline, Horton, Simon, Howard, David, Jaecks, Petra, Jefferies, Elizabeth, Jesus, Luis MT, Kambanaros, Maria, Kyoung Kang, Eun, Khedr, Eman M, Pak-Hin Kong, Anthony, Kukkonen, Tarja, Laganaro, Marina, Lambon Ralph, Matthew A, Charlotte Laska, Ann, Leemann, Béatrice, Leff, Alexander P, Lima, Roxele R, Lorenz, Antje, MacWhinney, Brian, Shisler Marshall, Rebecca, Mattioli, Flavia, Maviş, İlknur, Meinzer, Marcus, Nilipour, Reza, Noé, Enrique, Paik, Nam-Jong, Palmer, Rebecca, Papathanasiou, Ilias, Patricio, Brigida, Pavão Martins, Isabel, Price, Cathy, Prizl Jakovac, Tatjana, Rochon, Elizabeth, Rose, Miranda L, Rosso, Charlotte, Rubi-Fessen, Ilona, Ruiter, Marina B, Snell, Claerwen, Stahl, Benjamin, Szaflarski, Jerzy P, Thomas, Shirley A, van de Sandt-Koenderman, Mieke, van der Meulen, Ineke, Visch-Brink, Evy, Worrall, Linda, Harris Wright, Heather
Publicado 2022

Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed Whole Genome Sequencing Study

por Wang, Yuxuan, Selvaraj, Margaret Sunitha, Li, Xihao, Li, Zilin, Holdcraft, Jacob A., Arnett, Donna K., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Cade, Brian E., Carlson, Jenna C., Carson, April P., Chen, Yii-Der Ida, Curran, Joanne E., de Vries, Paul S., Dutcher, Susan K., Ellinor, Patrick T., Floyd, James S., Fornage, Myriam, Freedman, Barry I., Gabriel, Stacey, Germer, Soren, Gibbs, Richard A., Guo, Xiuqing, He, Jiang, Heard-Costa, Nancy, Hildalgo, Bertha, Hou, Lifang, Irvin, Marguerite R., Joehanes, Roby, Kaplan, Robert C., Kardia, Sharon LR., Kelly, Tanika N., Kim, Ryan, Kooperberg, Charles, Kral, Brian G., Levy, Daniel, Li, Changwei, Liu, Chunyu, Lloyd-Jone, Don, Loos, Ruth JF., Mahaney, Michael C., Martin, Lisa W., Mathias, Rasika A., Minster, Ryan L., Mitchell, Braxton D., Montasser, May E., Morrison, Alanna C., Murabito, Joanne M., Naseri, Take, O’Connell, Jeffrey R., Palmer, Nicholette D., Preuss, Michael H., Psaty, Bruce M., Raffield, Laura M., Rao, Dabeeru C., Redline, Susan, Reiner, Alexander P., Rich, Stephen S., Ruepena, Muagututi’a Sefuiva, Sheu, Wayne H-H., Smith, Jennifer A., Smith, Albert, Tiwari, Hemant K., Tsai, Michael Y., Viaud-Martinez, Karine A., Wang, Zhe, Yanek, Lisa R., Zhao, Wei, Rotter, Jerome I., Lin, Xihong, Natarajan, Pradeep, Peloso, Gina M.
Publicado 2023

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

por Nüesch, Eveline, Dale, Caroline, Palmer, Tom M, White, Jon, Keating, Brendan J, van Iperen, Erik PA, Goel, Anuj, Padmanabhan, Sandosh, Asselbergs, Folkert W, Verschuren, WM, Wijmenga, C, Van der Schouw, YT, Onland-Moret, NC, Lange, Leslie A, Hovingh, GK, Sivapalaratnam, Suthesh, Morris, Richard W, Whincup, Peter H, Wannamethe, Goya S, Gaunt, Tom R, Ebrahim, Shah, Steel, Laura, Nair, Nikhil, Reiner, Alexander P, Kooperberg, Charles, Wilson, James F, Bolton, Jennifer L, McLachlan, Stela, Price, Jacqueline F, Strachan, Mark WJ, Robertson, Christine M, Kleber, Marcus E, Delgado, Graciela, März, Winfried, Melander, Olle, Dominiczak, Anna F, Farrall, Martin, Watkins, Hugh, Leusink, Maarten, Maitland-van der Zee, Anke H, de Groot, Mark CH, Dudbridge, Frank, Hingorani, Aroon, Ben-Shlomo, Yoav, Lawlor, Debbie A, Amuzu, A, Caufield, M, Cavadino, A, Cooper, J, Davies, TL, Drenos, F, Engmann, J, Finan, C, Giambartolomei, C, Hardy, R, Humphries, SE, Hypponen, E, Kivimaki, M, Kuh, D, Kumari, M, Ong, K, Plagnol, V, Power, C, Richards, M, Shah, S, Shah, T, Sofat, R, Talmud, PJ, Wareham, N, Warren, H, Whittaker, JC, Wong, A, Zabaneh, D, Davey Smith, George, Wells, Jonathan C, Leon, David A, Holmes, Michael V, Casas, Juan P
Publicado 2016

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

por Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., Littlejohn, Rebecca O., Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander P.A., Kant, Sarina G., McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid M.A., Douzgou, Sofia, Wall, Steven A., Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J., Twigg, Stephen R.F., Mathijssen, Irene M.J., Nellaker, Christoffer, Brunner, Han G., Wilkie, Andrew O.M.
Publicado 2018

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2018

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

por Snijders Blok, Lot, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H., Nowak, Catherine B., Douglas, Jessica, Swoboda, Kathryn J., Steeves, Marcie A., Sahai, Inderneel, Stumpel, Connie T. R. M., Stegmann, Alexander P. A., Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T., Cohen, Ana S. A., Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J., Skinner, Steven A., Louie, Raymond J., Warren, Hannah E., Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H., Price, Susan, Schnur, Rhonda E., Douglas, Ganka, Wentzensen, Ingrid M., Zweier, Christiane, Reis, André, Bialer, Martin G., Moore, Christine, Koopmans, Marije, Brilstra, Eva H., Monroe, Glen R., van Gassen, Koen L. I., van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A., Wortmann, Saskia B., Jakielski, Kathy J., Strand, Edythe A., Kloth, Katja, Bierhals, Tatjana, Roberts, John D., Petrovich, Robert M., Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faivre, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G., Wade, Paul A., Fisher, Simon E., Campeau, Philippe M.
Publicado 2019

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

por Gehin, Charlotte, Lone, Museer A., Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M., Gerkes, Erica H., Stegmann, Alexander P.A., López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R., Zamuner, Stefano, Abriata, Luciano A., Kunnathully, Vidya, Moeller, Brandon E., Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W., Pfundt, Rolph, Willemsen, Marjolein H., Schieving, Jolanda H., Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R., Beier, Christoph P., Larsen, Martin J., Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S., Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis B.R., Bain, Jennifer M., Bhat, Musadiq A., Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L., Friez, Michael J., Richardson, Ellen B., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Gupta, Yask, Lim, Tze Y., Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E., Jakšić, Ana Marjia, McCabe, Brian D., De Los Rios, Paolo, Hornemann, Thorsten, D’Angelo, Giovanni, Gennarino, Vincenzo A.
Publicado 2023

Pharmacogenomics Study of Thiazide Diuretics and QT Interval in Multi-Ethnic Populations: The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE)

por Seyerle, Amanda A, Sitlani, Colleen M, Noordam, Raymond, Gogarten, Stephanie M, Li, Jin, Li, Xiaohui, Evans, Daniel S, Sun, Fangui, Laaksonen, Maarit A, Isaacs, Aaron, Kristiansson, Kati, Highland, Heather M, Stewart, James D, Harris, Tamara B, Trompet, Stella, Bis, Joshua C, Peloso, Gina M, Brody, Jennifer A, Broer, Linda, Busch, Evan L, Duan, Qing, Stilp, Adrienne M, O’Donnell, Christopher J, Macfarlane, Peter W, Floyd, James S, Kors, Jan A, Lin, Henry J, Li-Gao, Ruifang, Sofer, Tamar, Méndez-Giráldez, Raúl, Cummings, Steven R, Heckbert, Susan R, Hofman, Albert, Ford, Ian, Li, Yun, Launer, Lenore J, Porthan, Kimmo, Newton-Cheh, Christopher, Napier, Melanie D, Kerr, Kathleen F, Reiner, Alexander P, Rice, Kenneth M, Roach, Jeffrey, Buckley, Brendan M, Soliman, Elsayed Z, de Mutsert, Renée, Sotoodehnia, Nona, Uitterlinden, André G, North, Kari E, Lee, Craig R, Gudnason, Vilmundur, Stürmer, Til, Rosendaal, Frits R, Taylor, Kent D, Wiggins, Kerri L, Wilson, James G, Chen, Yii-Der I, Kaplan, Robert C, Wilhelmsen, Kirk, Cupples, L Adrienne, Salomaa, Veikko, van Duijn, Cornelia, Jukema, J Wouter, Liu, Yongmei, Mook-Kanamori, Dennis O, Lange, Leslie A, Vasan, Ramachandran S, Smith, Albert V, Stricker, Bruno H, Laurie, Cathy C, Rotter, Jerome I, Whitsel, Eric A, Psaty, Bruce M, Avery, Christy L
Publicado 2017

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixe...

por Kowalski, Madeline H., Qian, Huijun, Hou, Ziyi, Rosen, Jonathan D., Tapia, Amanda L., Shan, Yue, Jain, Deepti, Argos, Maria, Arnett, Donna K., Avery, Christy, Barnes, Kathleen C., Becker, Lewis C., Bien, Stephanie A., Bis, Joshua C., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Buyske, Steve, Cai, Jianwen, Cho, Michael H., Choi, Seung Hoan, Choquet, Hélène, Cupples, L. Adrienne, Cushman, Mary, Daya, Michelle, de Vries, Paul S., Ellinor, Patrick T., Faraday, Nauder, Fornage, Myriam, Gabriel, Stacey, Ganesh, Santhi K., Graff, Misa, Gupta, Namrata, He, Jiang, Heckbert, Susan R., Hidalgo, Bertha, Hodonsky, Chani J., Irvin, Marguerite R., Johnson, Andrew D., Jorgenson, Eric, Kaplan, Robert, Kardia, Sharon L. R., Kelly, Tanika N., Kooperberg, Charles, Lasky-Su, Jessica A., Loos, Ruth J. F., Lubitz, Steven A., Mathias, Rasika A., McHugh, Caitlin P., Montgomery, Courtney, Moon, Jee-Young, Morrison, Alanna C., Palmer, Nicholette D., Pankratz, Nathan, Papanicolaou, George J., Peralta, Juan M., Peyser, Patricia A., Rich, Stephen S., Rotter, Jerome I., Silverman, Edwin K., Smith, Jennifer A., Smith, Nicholas L., Taylor, Kent D., Thornton, Timothy A., Tiwari, Hemant K., Tracy, Russell P., Wang, Tao, Weiss, Scott T., Weng, Lu-Chen, Wiggins, Kerri L., Wilson, James G., Yanek, Lisa R., Zöllner, Sebastian, North, Kari E., Auer, Paul L., Raffield, Laura M., Reiner, Alexander P., Li, Yun
Publicado 2019

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

por Weinstock, Joshua S., Laurie, Cecelia A., Broome, Jai G., Taylor, Kent D., Guo, Xiuqing, Shuldiner, Alan R., O’Connell, Jeffrey R., Lewis, Joshua P., Boerwinkle, Eric, Barnes, Kathleen C., Chami, Nathalie, Kenny, Eimear E., Loos, Ruth J. F., Fornage, Myriam, Redline, Susan, Cade, Brian E., Gilliland, Frank D., Chen, Zhanghua, Gauderman, W. James, Kumar, Rajesh, Grammer, Leslie, Schleimer, Robert P., Psaty, Bruce M., Bis, Joshua C., Brody, Jennifer A., Silverman, Edwin K., Yun, Jeong H., Qiao, Dandi, Weiss, Scott T., Lasky-Su, Jessica, DeMeo, Dawn L., Palmer, Nicholette D., Freedman, Barry I., Bowden, Donald W., Cho, Michael H., Vasan, Ramachandran S., Johnson, Andrew D., Yanek, Lisa R., Becker, Lewis C., Kardia, Sharon, He, Jiang, Kaplan, Robert, Heckbert, Susan R., Smith, Nicholas L., Wiggins, Kerri L., Arnett, Donna K., Irvin, Marguerite R., Tiwari, Hemant, Correa, Adolfo, Raffield, Laura M., Gao, Yan, de Andrade, Mariza, Rotter, Jerome I., Rich, Stephen S., Manichaikul, Ani W., Konkle, Barbara A., Johnsen, Jill M., Wheeler, Marsha M., Custer, Brian S., Duggirala, Ravindranath, Curran, Joanne E., Blangero, John, Gui, Hongsheng, Xiao, Shujie, Williams, L. Keoki, Meyers, Deborah A., Li, Xingnan, Ortega, Victor, McGarvey, Stephen, Gu, C. Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Shoemaker, M. Benjamin, Darbar, Dawood, Roden, Dan, Albert, Christine, Kooperberg, Charles, Desai, Pinkal, Blackwell, Thomas W., Abecasis, Goncalo R., Smith, Albert V., Kang, Hyun M., Mathias, Rasika, Natarajan, Pradeep, Jaiswal, Siddhartha, Reiner, Alexander P., Bick, Alexander G.
Publicado 2023

New Susceptibility Loci Associated with Kidney Disease in Type 1 Diabetes

por Sandholm, Niina, Salem, Rany M., McKnight, Amy Jayne, Brennan, Eoin P., Forsblom, Carol, Isakova, Tamara, McKay, Gareth J., Williams, Winfred W., Sadlier, Denise M., Mäkinen, Ville-Petteri, Swan, Elizabeth J., Palmer, Cameron, Boright, Andrew P., Ahlqvist, Emma, Deshmukh, Harshal A., Keller, Benjamin J., Huang, Huateng, Ahola, Aila J., Fagerholm, Emma, Gordin, Daniel, Harjutsalo, Valma, He, Bing, Heikkilä, Outi, Hietala, Kustaa, Kytö, Janne, Lahermo, Päivi, Lehto, Markku, Lithovius, Raija, Österholm, Anne-May, Parkkonen, Maija, Pitkäniemi, Janne, Rosengård-Bärlund, Milla, Saraheimo, Markku, Sarti, Cinzia, Söderlund, Jenny, Soro-Paavonen, Aino, Syreeni, Anna, Thorn, Lena M., Tikkanen, Heikki, Tolonen, Nina, Tryggvason, Karl, Tuomilehto, Jaakko, Wadén, Johan, Gill, Geoffrey V., Prior, Sarah, Guiducci, Candace, Mirel, Daniel B., Taylor, Andrew, Hosseini, S. Mohsen, Parving, Hans-Henrik, Rossing, Peter, Tarnow, Lise, Ladenvall, Claes, Alhenc-Gelas, François, Lefebvre, Pierre, Rigalleau, Vincent, Roussel, Ronan, Tregouet, David-Alexandre, Maestroni, Anna, Maestroni, Silvia, Falhammar, Henrik, Gu, Tianwei, Möllsten, Anna, Cimponeriu, Danut, Ioana, Mihai, Mota, Maria, Mota, Eugen, Serafinceanu, Cristian, Stavarachi, Monica, Hanson, Robert L., Nelson, Robert G., Kretzler, Matthias, Colhoun, Helen M., Panduru, Nicolae Mircea, Gu, Harvest F., Brismar, Kerstin, Zerbini, Gianpaolo, Hadjadj, Samy, Marre, Michel, Groop, Leif, Lajer, Maria, Bull, Shelley B., Waggott, Daryl, Paterson, Andrew D., Savage, David A., Bain, Stephen C., Martin, Finian, Hirschhorn, Joel N., Godson, Catherine, Florez, Jose C., Groop, Per-Henrik, Maxwell, Alexander P.
Publicado 2012

Global data set of long-term summertime vertical temperature profiles in 153 lakes

por Pilla, Rachel M., Mette, Elizabeth M., Williamson, Craig E., Adamovich, Boris V., Adrian, Rita, Anneville, Orlane, Balseiro, Esteban, Ban, Syuhei, Chandra, Sudeep, Colom-Montero, William, Devlin, Shawn P., Dix, Margaret A., Dokulil, Martin T., Feldsine, Natalie A., Feuchtmayr, Heidrun, Fogarty, Natalie K., Gaiser, Evelyn E., Girdner, Scott F., González, María J., Hambright, K. David, Hamilton, David P., Havens, Karl, Hessen, Dag O., Hetzenauer, Harald, Higgins, Scott N., Huttula, Timo H., Huuskonen, Hannu, Isles, Peter D. F., Joehnk, Klaus D., Keller, Wendel Bill, Klug, Jen, Knoll, Lesley B., Korhonen, Johanna, Korovchinsky, Nikolai M., Köster, Oliver, Kraemer, Benjamin M., Leavitt, Peter R., Leoni, Barbara, Lepori, Fabio, Lepskaya, Ekaterina V., Lottig, Noah R., Luger, Martin S., Maberly, Stephen C., MacIntyre, Sally, McBride, Chris, McIntyre, Peter, Melles, Stephanie J., Modenutti, Beatriz, Müller-Navarra, Dörthe C., Pacholski, Laura, Paterson, Andrew M., Pierson, Don C., Pislegina, Helen V., Plisnier, Pierre-Denis, Richardson, David C., Rimmer, Alon, Rogora, Michela, Rogozin, Denis Y., Rusak, James A., Rusanovskaya, Olga O., Sadro, Steve, Salmaso, Nico, Saros, Jasmine E., Sarvala, Jouko, Saulnier-Talbot, Émilie, Schindler, Daniel E., Shimaraeva, Svetlana V., Silow, Eugene A., Sitoki, Lewis M., Sommaruga, Ruben, Straile, Dietmar, Strock, Kristin E., Swain, Hilary, Tallant, Jason M., Thiery, Wim, Timofeyev, Maxim A., Tolomeev, Alexander P., Tominaga, Koji, Vanni, Michael J., Verburg, Piet, Vinebrooke, Rolf D., Wanzenböck, Josef, Weathers, Kathleen, Weyhenmeyer, Gesa A., Zadereev, Egor S., Zhukova, Tatyana V.
Publicado 2021

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

por Selvaraj, Margaret Sunitha, Li, Xihao, Li, Zilin, Pampana, Akhil, Zhang, David Y., Park, Joseph, Aslibekyan, Stella, Bis, Joshua C., Brody, Jennifer A., Cade, Brian E., Chuang, Lee-Ming, Chung, Ren-Hua, Curran, Joanne E., de las Fuentes, Lisa, de Vries, Paul S., Duggirala, Ravindranath, Freedman, Barry I., Graff, Mariaelisa, Guo, Xiuqing, Heard-Costa, Nancy, Hidalgo, Bertha, Hwu, Chii-Min, Irvin, Marguerite R., Kelly, Tanika N., Kral, Brian G., Lange, Leslie, Li, Xiaohui, Lisa, Martin, Lubitz, Steven A., Manichaikul, Ani W., Michael, Preuss, Montasser, May E., Morrison, Alanna C., Naseri, Take, O’Connell, Jeffrey R., Palmer, Nicholette D., Peyser, Patricia A., Reupena, Muagututia S., Smith, Jennifer A., Sun, Xiao, Taylor, Kent D., Tracy, Russell P., Tsai, Michael Y., Wang, Zhe, Wang, Yuxuan, Bao, Wei, Wilkins, John T., Yanek, Lisa R., Zhao, Wei, Arnett, Donna K., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Chen, Yii-Der Ida, Correa, Adolfo, Cupples, L. Adrienne, Dutcher, Susan K., Ellinor, Patrick T., Fornage, Myriam, Gabriel, Stacey, Germer, Soren, Gibbs, Richard, He, Jiang, Kaplan, Robert C., Kardia, Sharon L. R., Kim, Ryan, Kooperberg, Charles, Loos, Ruth J. F., Viaud-Martinez, Karine A, Mathias, Rasika A., McGarvey, Stephen T., Mitchell, Braxton D., Nickerson, Deborah, North, Kari E., Psaty, Bruce M., Redline, Susan, Reiner, Alexander P., Vasan, Ramachandran S., Rich, Stephen S., Willer, Cristen, Rotter, Jerome I., Rader, Daniel J., Lin, Xihong, Peloso, Gina M., Natarajan, Pradeep
Publicado 2022

Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease

por Young, William J., Haessler, Jeffrey, Benjamins, Jan-Walter, Repetto, Linda, Yao, Jie, Isaacs, Aaron, Harper, Andrew R., Ramirez, Julia, Garnier, Sophie, van Duijvenboden, Stefan, Baldassari, Antoine R., Concas, Maria Pina, Duong, ThuyVy, Foco, Luisa, Isaksen, Jonas L., Mei, Hao, Noordam, Raymond, Nursyifa, Casia, Richmond, Anne, Santolalla, Meddly L., Sitlani, Colleen M., Soroush, Negin, Thériault, Sébastien, Trompet, Stella, Aeschbacher, Stefanie, Ahmadizar, Fariba, Alonso, Alvaro, Brody, Jennifer A., Campbell, Archie, Correa, Adolfo, Darbar, Dawood, De Luca, Antonio, Deleuze, Jean-François, Ellervik, Christina, Fuchsberger, Christian, Goel, Anuj, Grace, Christopher, Guo, Xiuqing, Hansen, Torben, Heckbert, Susan R., Jackson, Rebecca D., Kors, Jan A., Lima-Costa, Maria Fernanda, Linneberg, Allan, Macfarlane, Peter W., Morrison, Alanna C., Navarro, Pau, Porteous, David J., Pramstaller, Peter P., Reiner, Alexander P., Risch, Lorenz, Schotten, Ulrich, Shen, Xia, Sinagra, Gianfranco, Soliman, Elsayed Z., Stoll, Monika, Tarazona-Santos, Eduardo, Tinker, Andrew, Trajanoska, Katerina, Villard, Eric, Warren, Helen R., Whitsel, Eric A., Wiggins, Kerri L., Arking, Dan E., Avery, Christy L., Conen, David, Girotto, Giorgia, Grarup, Niels, Hayward, Caroline, Jukema, J.Wouter, Mook-Kanamori, Dennis O., Olesen, Morten Salling, Padmanabhan, Sandosh, Psaty, Bruce M., Pattaro, Cristian, Ribeiro, Antonio Luiz P., Rotter, Jerome I., Stricker, Bruno H., van der Harst, Pim, van Duijn, Cornelia M., Verweij, Niek, Wilson, James G., Orini, Michele, Charron, Philippe, Watkins, Hugh, Kooperberg, Charles, Lin, Henry J., Wilson, James F., Kanters, Jørgen K., Sotoodehnia, Nona, Mifsud, Borbala, Lambiase, Pier D., Tereshchenko, Larisa G., Munroe, Patricia B.
Publicado 2023

Genome-Wide Association of Body Fat Distribution in African Ancestry Populations Suggests New Loci

por Liu, Ching-Ti, Monda, Keri L., Taylor, Kira C., Lange, Leslie, Demerath, Ellen W., Palmas, Walter, Wojczynski, Mary K., Ellis, Jaclyn C., Vitolins, Mara Z., Liu, Simin, Papanicolaou, George J., Irvin, Marguerite R., Xue, Luting, Griffin, Paula J., Nalls, Michael A., Adeyemo, Adebowale, Liu, Jiankang, Li, Guo, Ruiz-Narvaez, Edward A., Chen, Wei-Min, Chen, Fang, Henderson, Brian E., Millikan, Robert C., Ambrosone, Christine B., Strom, Sara S., Guo, Xiuqing, Andrews, Jeanette S., Sun, Yan V., Mosley, Thomas H., Yanek, Lisa R., Shriner, Daniel, Haritunians, Talin, Rotter, Jerome I., Speliotes, Elizabeth K., Smith, Megan, Rosenberg, Lynn, Mychaleckyj, Josyf, Nayak, Uma, Spruill, Ida, Garvey, W. Timothy, Pettaway, Curtis, Nyante, Sarah, Bandera, Elisa V., Britton, Angela F., Zonderman, Alan B., Rasmussen-Torvik, Laura J., Chen, Yii-Der Ida, Ding, Jingzhong, Lohman, Kurt, Kritchevsky, Stephen B., Zhao, Wei, Peyser, Patricia A., Kardia, Sharon L. R., Kabagambe, Edmond, Broeckel, Ulrich, Chen, Guanjie, Zhou, Jie, Wassertheil-Smoller, Sylvia, Neuhouser, Marian L., Rampersaud, Evadnie, Psaty, Bruce, Kooperberg, Charles, Manson, JoAnn E., Kuller, Lewis H., Ochs-Balcom, Heather M., Johnson, Karen C., Sucheston, Lara, Ordovas, Jose M., Palmer, Julie R., Haiman, Christopher A., McKnight, Barbara, Howard, Barbara V., Becker, Diane M., Bielak, Lawrence F., Liu, Yongmei, Allison, Matthew A., Grant, Struan F. A., Burke, Gregory L., Patel, Sanjay R., Schreiner, Pamela J., Borecki, Ingrid B., Evans, Michele K., Taylor, Herman, Sale, Michele M., Howard, Virginia, Carlson, Christopher S., Rotimi, Charles N., Cushman, Mary, Harris, Tamara B., Reiner, Alexander P., Cupples, L. Adrienne, North, Kari E., Fox, Caroline S.
Publicado 2013