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Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field
National Academies of Sciences, Engineering, and Medicine, Division of Behavioral and Social Sciences and Education, Health and Medicine Division, Committee on Population, Board on Health Sciences Policy, Committee on the Use of Race, Ethnicity, and Ancestry as Population Descriptors in Genomics Research
Year of Publication 20.06.2023
Year of Publication 20.06.2023
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Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
Chauhan, Ganesh, Traylor, Matthew, Sargurupremraj, Muralidharan, Okada, Yukinori, Mishra, Aniket, Giese, Anne-Katrin, van der Laan, Sander W., Gretarsdottir, Solveig, Anderson, Christopher D., Almgren, Peter, Amouyel, Philippe, Bartz, Traci M., Benavente, Oscar R., Boncoraglio, Giorgio B., Butterworth, Adam S., Carrera, Caty, Chasman, Daniel I., Cotlarciuc, Ioana, Cruchaga, Carlos, de Bakker, Paul I. W., Duan, Qing, Gottesman, Rebecca F., Harris, Tamara B., Hassan, Ahamad, Havulinna, Aki S., Heckbert, Susan R., Hyacinth, Hyacinth I., Ikram, M. Arfan, Ingelsson, Erik, Jian, Xueqiu, Jukema, J. Wouter, Kanai, Masahiro, Keene, Keith L., Kissela, Brett M., Kleindorfer, Dawn O., Kooperberg, Charles, Lange, Leslie A., Langenberg, Claudia, Launer, Lenore J., Lemmens, Robin, Lewis, Cathryn M., Lin, Wei-Yu, Lorentzen, Erik, Magnusson, Patrik K., Meschia, James F., Mitchell, Braxton D., Mosley, Thomas H., Nalls, Michael A., O’Donnell, Martin J., Pulit, Sara L., Reiner, Alexander P., Ridker, Paul M., Rothwell, Peter M., Rotter, Jerome I., Sale, Michele M., Salomaa, Veikko, Sapkota, Bishwa R., Schmidt, Reinhold, Schmidt, Carsten O., Sharma, Pankaj, Slowik, Agnieszka, Sudlow, Cathie L. M., Tanislav, Christian, Thijs, Vincent N. S., Thorsteinsdottir, Unnur, Tiedt, Steffen, Trompet, Stella, Wareham, Nicholas J., Wassertheil-Smoller, Sylvia, Wilson, James G., Pastinen, Tomi, Ruusalepp, Arno, Koplev, Simon, Björkegren, Johan L. M., Codoni, Veronica, Civelek, Mete, Christophersen, Ingrid E., Roselli, Carolina, Ellinor, Patrick T., Kato, Norihiro, van der Harst, Pim, Elliott, Paul, Takeuchi, Fumihiko, Johnson, Andrew D., Sanghera, Dharambir K., Melander, Olle, Strbian, Daniel, Fernandez-Cadenas, Israel, Rolfs, Arndt, Hata, Jun, Woo, Daniel, Pare, Guillaume, Hopewell, Jemma C., Saleheen, Danish, Stefansson, Kari, Worrall, Bradford B., Seshadri, Sudha, Markus, Hugh S., Debette, Stephanie, Dichgans, Martin
Published in Nature genetics (01.04.2018)
Published in Nature genetics (01.04.2018)
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Genetics and Genomics of Pulmonary Arterial Hypertension
Year of Publication 2022
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Application of Genetics and Genomics in Livestock Production
Year of Publication 2023
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A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment
Hampel, Heather, Bennett, Robin L., Buchanan, Adam, Pearlman, Rachel, Wiesner, Georgia L.
Published in Genetics in medicine (01.01.2015)
Published in Genetics in medicine (01.01.2015)
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A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
Marafi, Dana, Kozar, Nina, Duan, Ruizhi, Bradley, Stephen, Yokochi, Kenji, Al Mutairi, Fuad, Saadi, Nebal Waill, Whalen, Sandra, Brunet, Theresa, Kotzaeridou, Urania, Choukair, Daniela, Keren, Boris, Nava, Caroline, Kato, Mitsuhiro, Arai, Hiroshi, Froukh, Tawfiq, Faqeih, Eissa Ali, AlAsmari, Ali M., Saleh, Mohammed M., Pinto e Vairo, Filippo, Pichurin, Pavel N., Klee, Eric W., Schmitz, Christopher T., Grochowski, Christopher M., Mitani, Tadahiro, Herman, Isabella, Calame, Daniel G., Fatih, Jawid M., Du, Haowei, Coban-Akdemir, Zeynep, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Miyatake, Satoko, Matsumoto, Naomichi, Wagstaff, Laura J., Posey, Jennifer E., Lupski, James R., Meijer, Dies, Wagner, Matias
Published in American journal of human genetics (01.09.2022)
Published in American journal of human genetics (01.09.2022)
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Characterization of Oxidative Guanine Damage and Repair in Mammalian Telomeres
Wang, Zhilong, Rhee, David B., Lu, Jian, Bohr, Christina T., Zhou, Fang, Vallabhaneni, Haritha, de Souza-Pinto, Nadja C., Liu, Yie
Published in PLoS genetics (13.05.2010)
Published in PLoS genetics (13.05.2010)
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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Merico, Daniele, Antaki, Danny, Shetty, Aniket, Gujral, Madhusudan, Brandler, William M, Malhotra, Dheeraj, Alexander, Madeline, Belliveau, Richard A, Bergen, Sarah E, Bertalan, Marcelo, Bevilacqua, Elizabeth, Cantor, Rita M, Carrera, Noa, Cormican, Paul, Crespo-Facorro, Benedicto, Curtis, David, Davidson, Michael, Degenhardt, Franziska, Del Favero, Jurgen, DeLisi, Lynn E, Dudbridge, Frank, Eichhammer, Peter, Eriksson, Johan, Essioux, Laurent, Farrell, Martilias S, Freedman, Robert, Freimer, Nelson B, Georgieva, Lyudmila, Gershon, Elliot S, Giegling, Ina, Godard, Stephanie, Goldstein, Jacqueline I, Hamshere, Marian L, Hartmann, Annette M, Hofman, Andrea, Kähler, Anna K, Kalaydjieva, Luba, Kelly, Brian J, Lee, S Hong, Legge, Sophie E, Lerer, Bernard, Levy, Deborah L, Maher, Brion S, Mattingsdal, Morten, McDonald, Colm, Metspalu, Andres, Milanova, Vihra, Morris, Derek W, Murray, Robin M, Nestadt, Gerald, Nicodemus, Kristin K, Nordin, Annelie, Oh, Sang-Yun, Olsen, Line, Van Os, Jim, Pantelis, Christos, Pers, Tune H, Powell, John, Price, Alkes, Pulver, Ann E, Purcell, Shaun M, Rasmussen, Henrik B, Richards, Alexander L, Roussos, Panos, Schall, Ulrich, Schwab, Sibylle G, Smoller, Jordan W, Spencer, Chris C A, Stahl, Eli A, Stroup, T Scott, Suvisaari, Jaana, Svrakic, Dragan M, Szatkiewicz, Jin P, Veijola, Juha, Waddington, John, Webb, Bradley T, Williams, Nigel M, Williams, Stephanie, Wolen, Aaron R, Adolfsson, Rolf, Blackwood, Douglas H R, Bramon, Elvira, Buxbaum, Joseph D, Collier, David A, Daly, Mark J, Darvasi, Ariel, Domenici, Enrico, Gill, Michael, Iwata, Nakao, Jablensky, Assen V, Jönsson, Erik G, Kirov, George, Knight, Jo, Levinson, Douglas F, Ophoff, Roel A, Owen, Michael J, Rietschel, Marcella, Rujescu, Dan, O'Donovan, Michael C, Neale, Benjamin M
Published in Nature genetics (01.01.2017)
Published in Nature genetics (01.01.2017)
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Teaching and training of human resources for genetics and genomics in Brazil
de Lima, Fernanda Teresa, de Lima, Maria Angélica de Faria Domingues, Correia, Patrícia Santana, Honjo, Rachel Sayuri, Maia, Rayana Elias, Kyosen, Sandra Obikawa, Melo, Débora Gusmão
Published in Journal of community genetics (13.08.2024)
Published in Journal of community genetics (13.08.2024)
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Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
Hysi, Pirro G., Choquet, Hélène, Khawaja, Anthony P., Wojciechowski, Robert, Tedja, Milly S., Yin, Jie, Simcoe, Mark J., Patasova, Karina, Mahroo, Omar A., Thai, Khanh K., Cumberland, Phillippa M., Melles, Ronald B., Verhoeven, Virginie J. M., Vitart, Veronique, Segre, Ayellet, Stone, Richard A., Wareham, Nick, Hewitt, Alex W., Mackey, David A., Klaver, Caroline C. W., MacGregor, Stuart, Khaw, Peng T., Foster, Paul J., Guggenheim, Jeremy A., Rahi, Jugnoo S., Jorgenson, Eric, Hammond, Christopher J.
Published in Nature genetics (01.04.2020)
Published in Nature genetics (01.04.2020)
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Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells
Liu, Jinglan, Zhang, Zhe, Bando, Masashige, Itoh, Takehiko, Deardorff, Matthew A., Clark, Dinah, Kaur, Maninder, Tandy, Stephany, Kondoh, Tatsuro, Rappaport, Eric, Spinner, Nancy B., Vega, Hugo, Jackson, Laird G., Shirahige, Katsuhiko, Krantz, Ian D.
Published in PLoS biology (26.05.2009)
Published in PLoS biology (26.05.2009)
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Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma
McGeachie, Michael J., Yates, Katherine P., Zhou, Xiaobo, Guo, Feng, Sternberg, Alice L., Van Natta, Mark L., Wise, Robert A., Szefler, Stanley J., Sharma, Sunita, Kho, Alvin T., Cho, Michael H., Croteau-Chonka, Damien C., Castaldi, Peter J., Jain, Gaurav, Sanyal, Amartya, Zhan, Ye, Lajoie, Bryan R., Dekker, Job, Stamatoyannopoulos, John, Covar, Ronina A., Zeiger, Robert S., Adkinson, N. Franklin, Williams, Paul V., Kelly, H. William, Grasemann, Hartmut, Vonk, Judith M., Koppelman, Gerard H., Postma, Dirkje S., Raby, Benjamin A., Houston, Isaac, Lu, Quan, Fuhlbrigge, Anne L., Tantisira, Kelan G., Silverman, Edwin K., Tonascia, James, Strunk, Robert C., Weiss, Scott T.
Published in American journal of respiratory and critical care medicine (15.12.2016)
Published in American journal of respiratory and critical care medicine (15.12.2016)
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Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons
Schafer, Simon T., Paquola, Apua C. M., Stern, Shani, Gosselin, David, Ku, Manching, Pena, Monique, Kuret, Thomas J. M., Liyanage, Marvin, Mansour, Abed AlFatah, Jaeger, Baptiste N., Marchetto, Maria C., Glass, Christopher K., Mertens, Jerome, Gage, Fred H.
Published in Nature neuroscience (01.02.2019)
Published in Nature neuroscience (01.02.2019)
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The Effect of Algorithms on Copy Number Variant Detection
Tsuang, Debby W., Millard, Steven P., Ely, Benjamin, Chi, Peter, Wang, Kenneth, Raskind, Wendy H., Kim, Sulgi, Brkanac, Zoran, Yu, Chang-En
Published in PloS one (30.12.2010)
Published in PloS one (30.12.2010)
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