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Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.

Science (New York, N.Y.)

Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B.
PMID: 34914532
Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17.

[Figure: see text].

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Sirén J, Monlong J, Chang X, et al. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021;374(6574):abg8871doi: 10.1126/science.abg8871.
Sirén, J., Monlong, J., Chang, X., Novak, A. M., Eizenga, J. M., Markello, C., Sibbesen, J. A., Hickey, G., Chang, P. C., Carroll, A., Gupta, N., Gabriel, S., Blackwell, T. W., Ratan, A., Taylor, K. D., Rich, S. S., Rotter, J. I., Haussler, D., Garrison, E., & Paten, B. (2021). Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science (New York, N.Y.), 374(6574), abg8871. https://doi.org/10.1126/science.abg8871
Sirén, Jouni, et al. "Pangenomics enables genotyping of known structural variants in 5202 diverse genomes." Science (New York, N.Y.) vol. 374,6574 (2021): abg8871. doi: https://doi.org/10.1126/science.abg8871
Sirén J, Monlong J, Chang X, Novak AM, Eizenga JM, Markello C, Sibbesen JA, Hickey G, Chang PC, Carroll A, Gupta N, Gabriel S, Blackwell TW, Ratan A, Taylor KD, Rich SS, Rotter JI, Haussler D, Garrison E, Paten B. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science. 2021 Dec 17;374(6574):abg8871. doi: 10.1126/science.abg8871. Epub 2021 Dec 17. PMID: 34914532.
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Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease.

PLoS genetics

Lackey L, Coria A, Ghosh AJ, Grayeski P, Hatfield A, Shankar V, Platig J, Xu Z, Ramos SBV, Silverman EK, Ortega VE, Cho MH, Hersh CP, Hobbs BD, Castaldi P, Laederach A.
PMID: 34784346
PLoS Genet. 2021 Nov 16;17(11):e1009912. doi: 10.1371/journal.pgen.1009912. eCollection 2021 Nov.

α1-anti-trypsin (A1AT), encoded by SERPINA1, is a neutrophil elastase inhibitor that controls the inflammatory response in the lung. Severe A1AT deficiency increases risk for Chronic Obstructive Pulmonary Disease (COPD), however, the role of A1AT in COPD in non-deficient individuals...

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Lackey L, Coria A, Ghosh AJ, et al. Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease. PLoS Genet. 2021;17(11):e1009912doi: 10.1371/journal.pgen.1009912.
Lackey, L., Coria, A., Ghosh, A. J., Grayeski, P., Hatfield, A., Shankar, V., Platig, J., Xu, Z., Ramos, S. B. V., Silverman, E. K., Ortega, V. E., Cho, M. H., Hersh, C. P., Hobbs, B. D., Castaldi, P., & Laederach, A. (2021). Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease. PLoS genetics, 17(11), e1009912. https://doi.org/10.1371/journal.pgen.1009912
Lackey, Lela, et al. "Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease." PLoS genetics vol. 17,11 (2021): e1009912. doi: https://doi.org/10.1371/journal.pgen.1009912
Lackey L, Coria A, Ghosh AJ, Grayeski P, Hatfield A, Shankar V, Platig J, Xu Z, Ramos SBV, Silverman EK, Ortega VE, Cho MH, Hersh CP, Hobbs BD, Castaldi P, Laederach A. Alternative poly-adenylation modulates α1-antitrypsin expression in chronic obstructive pulmonary disease. PLoS Genet. 2021 Nov 16;17(11):e1009912. doi: 10.1371/journal.pgen.1009912. eCollection 2021 Nov. PMID: 34784346; PMCID: PMC8631626.
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Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation.

Circulation. Genomic and precision medicine

Yang Y, Bartz TM, Brown MR, Guo X, Zilhão NR, Trompet S, Weiss S, Yao J, Brody JA, Defilippi CR, Hoogeveen RC, Lin HJ, Gudnason V, Ballantyne CM, Dörr M, Jukema JW, Petersmann A, Psaty BM, Rotter JI, Boerwinkle E, Fornage M, Jun G, Yu B.
PMID: 34732054
Circ Genom Precis Med. 2021 Dec;14(6):e003460. doi: 10.1161/CIRCGEN.121.003460. Epub 2021 Nov 04.

BACKGROUND: Elevated cardiac troponin levels in blood are associated with increased risk of cardiovascular diseases and mortality. Cardiac troponin levels are heritable, but their genetic architecture remains elusive.METHODS: We conducted a transethnic genome-wide association analysis on high-sensitivity cTnT (cardiac...

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Yang Y, Bartz TM, Brown MR, et al. Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. Circ Genom Precis Med. 2021;14(6):e003460doi: 10.1161/CIRCGEN.121.003460.
Yang, Y., Bartz, T. M., Brown, M. R., Guo, X., Zilhão, N. R., Trompet, S., Weiss, S., Yao, J., Brody, J. A., Defilippi, C. R., Hoogeveen, R. C., Lin, H. J., Gudnason, V., Ballantyne, C. M., Dörr, M., Jukema, J. W., Petersmann, A., Psaty, B. M., Rotter, J. I., Boerwinkle, E., Fornage, M., Jun, G., & Yu, B. (2021). Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. Circulation. Genomic and precision medicine, 14(6), e003460. https://doi.org/10.1161/CIRCGEN.121.003460
Yang, Yunju, et al. "Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation." Circulation. Genomic and precision medicine vol. 14,6 (2021): e003460. doi: https://doi.org/10.1161/CIRCGEN.121.003460
Yang Y, Bartz TM, Brown MR, Guo X, Zilhão NR, Trompet S, Weiss S, Yao J, Brody JA, Defilippi CR, Hoogeveen RC, Lin HJ, Gudnason V, Ballantyne CM, Dörr M, Jukema JW, Petersmann A, Psaty BM, Rotter JI, Boerwinkle E, Fornage M, Jun G, Yu B. Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. Circ Genom Precis Med. 2021 Dec;14(6):e003460. doi: 10.1161/CIRCGEN.121.003460. Epub 2021 Nov 04. PMID: 34732054; PMCID: PMC8692416.
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Multiethnic genome-wide and HLA association study of total serum IgE level.

The Journal of allergy and clinical immunology

Daya M, Cox C, Acevedo N, Boorgula MP, Campbell M, Chavan S, Cho MH, David GL, Kachroo P, Lasky-Su J, Li X, McHugh CP, Qiao D, Rafaels N, Beck LA, Bleecker ER, Caraballo L, Cupples AL, Figueiredo CA, Gallo RL, Hanifin J, Hansel NN, Hata TR, Hersh CP, Knight-Madden J, Leung DYM, Guttman-Yassky E, Meyers DA, O'Connor G, Ober C, Ong PY, Ortega VE, Paller AS, Putcha N, Reed RM, Schneider LC, Silverman EK, Slifka MK, Spergel JM, Vasan RS, Viaud-Martinez KA, Watson H, Weiss ST, Ruczinski I, Beaty TH, Mathias RA, Barnes KC.
PMID: 34536413
J Allergy Clin Immunol. 2021 Dec;148(6):1589-1595. doi: 10.1016/j.jaci.2021.09.011. Epub 2021 Sep 15.

BACKGROUND: Total serum IgE (tIgE) is an important intermediate phenotype of allergic disease. Whole genome genetic association studies across ancestries may identify important determinants of IgE.OBJECTIVE: We aimed to increase understanding of genetic variants affecting tIgE production across the...

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Daya M, Cox C, Acevedo N, et al. Multiethnic genome-wide and HLA association study of total serum IgE level. J Allergy Clin Immunol. 2021;148(6):1589-1595doi: 10.1016/j.jaci.2021.09.011.
Daya, M., Cox, C., Acevedo, N., Boorgula, M. P., Campbell, M., Chavan, S., Cho, M. H., David, G. L., Kachroo, P., Lasky-Su, J., Li, X., McHugh, C. P., Qiao, D., Rafaels, N., Beck, L. A., Bleecker, E. R., Caraballo, L., Cupples, A. L., Figueiredo, C. A., Gallo, R. L., Hanifin, J., Hansel, N. N., Hata, T. R., Hersh, C. P., Knight-Madden, J., Leung, D. Y. M., Guttman-Yassky, E., Meyers, D. A., O'Connor, G., Ober, C., Ong, P. Y., Ortega, V. E., Paller, A. S., Putcha, N., Reed, R. M., Schneider, L. C., Silverman, E. K., Slifka, M. K., Spergel, J. M., Vasan, R. S., Viaud-Martinez, K. A., Watson, H., Weiss, S. T., Ruczinski, I., Beaty, T. H., Mathias, R. A., & Barnes, K. C. (2021). Multiethnic genome-wide and HLA association study of total serum IgE level. The Journal of allergy and clinical immunology, 148(6), 1589-1595. https://doi.org/10.1016/j.jaci.2021.09.011
Daya, Michelle, et al. "Multiethnic genome-wide and HLA association study of total serum IgE level." The Journal of allergy and clinical immunology vol. 148,6 (2021): 1589-1595. doi: https://doi.org/10.1016/j.jaci.2021.09.011
Daya M, Cox C, Acevedo N, Boorgula MP, Campbell M, Chavan S, Cho MH, David GL, Kachroo P, Lasky-Su J, Li X, McHugh CP, Qiao D, Rafaels N, Beck LA, Bleecker ER, Caraballo L, Cupples AL, Figueiredo CA, Gallo RL, Hanifin J, Hansel NN, Hata TR, Hersh CP, Knight-Madden J, Leung DYM, Guttman-Yassky E, Meyers DA, O'Connor G, Ober C, Ong PY, Ortega VE, Paller AS, Putcha N, Reed RM, Schneider LC, Silverman EK, Slifka MK, Spergel JM, Vasan RS, Viaud-Martinez KA, Watson H, Weiss ST, Ruczinski I, Beaty TH, Mathias RA, Barnes KC. Multiethnic genome-wide and HLA association study of total serum IgE level. J Allergy Clin Immunol. 2021 Dec;148(6):1589-1595. doi: 10.1016/j.jaci.2021.09.011. Epub 2021 Sep 15. PMID: 34536413; PMCID: PMC8665111.
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Lymph node-resident dendritic cells drive T.

Science immunology

Castellanos CA, Ren X, Gonzalez SL, Li HK, Schroeder AW, Liang HE, Laidlaw BJ, Hu D, Mak ACY, Eng C, Rodríguez-Santana JR, LeNoir M, Yan Q, Celedón JC, Burchard EG, Zamvil SS, Ishido S, Locksley RM, Cyster JG, Huang X, Shin JS.
PMID: 34652961
Sci Immunol. 2021 Oct 15;6(64):eabh0707. doi: 10.1126/sciimmunol.abh0707. Epub 2021 Oct 15.

[Figure: see text].

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Castellanos CA, Ren X, Gonzalez SL, et al. Lymph node-resident dendritic cells drive T. Sci Immunol. 2021;6(64):eabh0707doi: 10.1126/sciimmunol.abh0707.
Castellanos, C. A., Ren, X., Gonzalez, S. L., Li, H. K., Schroeder, A. W., Liang, H. E., Laidlaw, B. J., Hu, D., Mak, A. C. Y., Eng, C., Rodríguez-Santana, J. R., LeNoir, M., Yan, Q., Celedón, J. C., Burchard, E. G., Zamvil, S. S., Ishido, S., Locksley, R. M., Cyster, J. G., Huang, X., & Shin, J. S. (2021). Lymph node-resident dendritic cells drive T. Science immunology, 6(64), eabh0707. https://doi.org/10.1126/sciimmunol.abh0707
Castellanos, Carlos A, et al. "Lymph node-resident dendritic cells drive T." Science immunology vol. 6,64 (2021): eabh0707. doi: https://doi.org/10.1126/sciimmunol.abh0707
Castellanos CA, Ren X, Gonzalez SL, Li HK, Schroeder AW, Liang HE, Laidlaw BJ, Hu D, Mak ACY, Eng C, Rodríguez-Santana JR, LeNoir M, Yan Q, Celedón JC, Burchard EG, Zamvil SS, Ishido S, Locksley RM, Cyster JG, Huang X, Shin JS. Lymph node-resident dendritic cells drive T. Sci Immunol. 2021 Oct 15;6(64):eabh0707. doi: 10.1126/sciimmunol.abh0707. Epub 2021 Oct 15. PMID: 34652961; PMCID: PMC8736284.
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Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Wellcome open research

Jackson VE, Latourelle JC, Wain LV, Smith AV, Grove ML, Bartz TM, Obeidat M, Province MA, Gao W, Qaiser B, Porteous DJ, Cassano PA, Ahluwalia TS, Grarup N, Li J, Altmaier E, Marten J, Harris SE, Manichaikul A, Pottinger TD, Li-Gao R, Lind-Thomsen A, Mahajan A, Lahousse L, Imboden M, Teumer A, Prins B, Lyytikäinen LP, Eiriksdottir G, Franceschini N, Sitlani CM, Brody JA, Bossé Y, Timens W, Kraja A, Loukola A, Tang W, Liu Y, Bork-Jensen J, Justesen JM, Linneberg A, Lange LA, Rawal R, Karrasch S, Huffman JE, Smith BH, Davies G, Burkart KM, Mychaleckyj JC, Bonten TN, Enroth S, Lind L, Brusselle GG, Kumar A, Stubbe B, Kähönen M, Wyss AB, Psaty BM, Heckbert SR, Hao K, Rantanen T, Kritchevsky SB, Lohman K, Skaaby T, Pisinger C, Hansen T, Schulz H, Polasek O, Campbell A, Starr JM, Rich SS, Mook-Kanamori DO, Johansson Å, Ingelsson E, Uitterlinden AG, Weiss S, Raitakari OT, Gudnason V, North KE, Gharib SA, Sin DD, Taylor KD, O'Connor GT, Kaprio J, Harris TB, Pederson O, Vestergaard H, Wilson JG, Strauch K, Hayward C, Kerr S, Deary IJ, Barr RG, de Mutsert R, Gyllensten U, Morris AP, Ikram MA, Probst-Hensch N, Gläser S, Zeggini E, Lehtimäki T, Strachan DP, Dupuis J, Morrison AC, Hall IP, Tobin MD, London SJ.
PMID: 30175238
Wellcome Open Res. 2018 Jan 12;3:4. doi: 10.12688/wellcomeopenres.12583.3. eCollection 2018.

No abstract available.

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Jackson VE, Latourelle JC, Wain LV, et al. Meta-analysis of exome array data identifies six novel genetic loci for lung function. Wellcome Open Res. 2018;3:4doi: 10.12688/wellcomeopenres.12583.3.
Jackson, V. E., Latourelle, J. C., Wain, L. V., Smith, A. V., Grove, M. L., Bartz, T. M., Obeidat, M., Province, M. A., Gao, W., Qaiser, B., Porteous, D. J., Cassano, P. A., Ahluwalia, T. S., Grarup, N., Li, J., Altmaier, E., Marten, J., Harris, S. E., Manichaikul, A., Pottinger, T. D., Li-Gao, R., Lind-Thomsen, A., Mahajan, A., Lahousse, L., Imboden, M., Teumer, A., Prins, B., Lyytikäinen, L. P., Eiriksdottir, G., Franceschini, N., Sitlani, C. M., Brody, J. A., Bossé, Y., Timens, W., Kraja, A., Loukola, A., Tang, W., Liu, Y., Bork-Jensen, J., Justesen, J. M., Linneberg, A., Lange, L. A., Rawal, R., Karrasch, S., Huffman, J. E., Smith, B. H., Davies, G., Burkart, K. M., Mychaleckyj, J. C., Bonten, T. N., Enroth, S., Lind, L., Brusselle, G. G., Kumar, A., Stubbe, B., Kähönen, M., Wyss, A. B., Psaty, B. M., Heckbert, S. R., Hao, K., Rantanen, T., Kritchevsky, S. B., Lohman, K., Skaaby, T., Pisinger, C., Hansen, T., Schulz, H., Polasek, O., Campbell, A., Starr, J. M., Rich, S. S., Mook-Kanamori, D. O., Johansson, �. �., Ingelsson, E., Uitterlinden, A. G., Weiss, S., Raitakari, O. T., Gudnason, V., North, K. E., Gharib, S. A., Sin, D. D., Taylor, K. D., O'Connor, G. T., Kaprio, J., Harris, T. B., Pederson, O., Vestergaard, H., Wilson, J. G., Strauch, K., Hayward, C., Kerr, S., Deary, I. J., Barr, R. G., de Mutsert, R., Gyllensten, U., Morris, A. P., Ikram, M. A., Probst-Hensch, N., Gläser, S., Zeggini, E., Lehtimäki, T., Strachan, D. P., Dupuis, J., Morrison, A. C., Hall, I. P., Tobin, M. D., & London, S. J. (2018). Meta-analysis of exome array data identifies six novel genetic loci for lung function. Wellcome open research, 34. https://doi.org/10.12688/wellcomeopenres.12583.3
Jackson, Victoria E, et al. "Meta-analysis of exome array data identifies six novel genetic loci for lung function." Wellcome open research vol. 3 (2018): 4. doi: https://doi.org/10.12688/wellcomeopenres.12583.3
Jackson VE, Latourelle JC, Wain LV, Smith AV, Grove ML, Bartz TM, Obeidat M, Province MA, Gao W, Qaiser B, Porteous DJ, Cassano PA, Ahluwalia TS, Grarup N, Li J, Altmaier E, Marten J, Harris SE, Manichaikul A, Pottinger TD, Li-Gao R, Lind-Thomsen A, Mahajan A, Lahousse L, Imboden M, Teumer A, Prins B, Lyytikäinen LP, Eiriksdottir G, Franceschini N, Sitlani CM, Brody JA, Bossé Y, Timens W, Kraja A, Loukola A, Tang W, Liu Y, Bork-Jensen J, Justesen JM, Linneberg A, Lange LA, Rawal R, Karrasch S, Huffman JE, Smith BH, Davies G, Burkart KM, Mychaleckyj JC, Bonten TN, Enroth S, Lind L, Brusselle GG, Kumar A, Stubbe B, Kähönen M, Wyss AB, Psaty BM, Heckbert SR, Hao K, Rantanen T, Kritchevsky SB, Lohman K, Skaaby T, Pisinger C, Hansen T, Schulz H, Polasek O, Campbell A, Starr JM, Rich SS, Mook-Kanamori DO, Johansson Å, Ingelsson E, Uitterlinden AG, Weiss S, Raitakari OT, Gudnason V, North KE, Gharib SA, Sin DD, Taylor KD, O'Connor GT, Kaprio J, Harris TB, Pederson O, Vestergaard H, Wilson JG, Strauch K, Hayward C, Kerr S, Deary IJ, Barr RG, de Mutsert R, Gyllensten U, Morris AP, Ikram MA, Probst-Hensch N, Gläser S, Zeggini E, Lehtimäki T, Strachan DP, Dupuis J, Morrison AC, Hall IP, Tobin MD, London SJ. Meta-analysis of exome array data identifies six novel genetic loci for lung function. Wellcome Open Res. 2018 Jan 12;3:4. doi: 10.12688/wellcomeopenres.12583.3. eCollection 2018. PMID: 30175238; PMCID: PMC6081985.
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Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

Neurology

Chauhan G, Adams HHH, Satizabal CL, Bis JC, Teumer A, Sargurupremraj M, Hofer E, Trompet S, Hilal S, Smith AV, Jian X, Malik R, Traylor M, Pulit SL, Amouyel P, Mazoyer B, Zhu YC, Kaffashian S, Schilling S, Beecham GW, Montine TJ, Schellenberg GD, Kjartansson O, Guðnason V, Knopman DS, Griswold ME, Windham BG, Gottesman RF, Mosley TH, Schmidt R, Saba Y, Schmidt H, Takeuchi F, Yamaguchi S, Nabika T, Kato N, Rajan KB, Aggarwal NT, De Jager PL, Evans DA, Psaty BM, Rotter JI, Rice K, Lopez OL, Liao J, Chen C, Cheng CY, Wong TY, Ikram MK, van der Lee SJ, Amin N, Chouraki V, DeStefano AL, Aparicio HJ, Romero JR, Maillard P, DeCarli C, Wardlaw JM, Hernández MDCV, Luciano M, Liewald D, Deary IJ, Starr JM, Bastin ME, Muñoz Maniega S, Slagboom PE, Beekman M, Deelen J, Uh HW, Lemmens R, Brodaty H, Wright MJ, Ames D, Boncoraglio GB, Hopewell JC, Beecham AH, Blanton SH, Wright CB, Sacco RL, Wen W, Thalamuthu A, Armstrong NJ, Chong E, Schofield PR, Kwok JB, van der Grond J, Stott DJ, Ford I, Jukema JW, Vernooij MW, Hofman A, Uitterlinden AG, van der Lugt A, Wittfeld K, Grabe HJ, Hosten N, von Sarnowski B, Völker U, Levi C, Jimenez-Conde J, Sharma P, Sudlow CLM, Rosand J, Woo D, Cole JW, Meschia JF, Slowik A, Thijs V, Lindgren A, Melander O, Grewal RP, Rundek T, Rexrode K, Rothwell PM, Arnett DK, Jern C, Johnson JA, Benavente OR, Wasssertheil-Smoller S, Lee JM, Wong Q, Mitchell BD, Rich SS, McArdle PF, Geerlings MI, van der Graaf Y, de Bakker PIW, Asselbergs FW, Srikanth V, Thomson R, McWhirter R, Moran C, Callisaya M, Phan T, Rutten-Jacobs LCA, Bevan S, Tzourio C, Mather KA, Sachdev PS, van Duijn CM, Worrall BB, Dichgans M, Kittner SJ, Markus HS, Ikram MA, Fornage M, Launer LJ, Seshadri S, Longstreth WT, Debette S.
PMID: 30651383
Neurology. 2019 Jan 16; doi: 10.1212/WNL.0000000000006851. Epub 2019 Jan 16.

OBJECTIVE: To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts.METHODS: We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with...

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Chauhan G, Adams HHH, Satizabal CL, et al. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology. 2019;doi: 10.1212/WNL.0000000000006851.
Chauhan, G., Adams, H. H. H., Satizabal, C. L., Bis, J. C., Teumer, A., Sargurupremraj, M., Hofer, E., Trompet, S., Hilal, S., Smith, A. V., Jian, X., Malik, R., Traylor, M., Pulit, S. L., Amouyel, P., Mazoyer, B., Zhu, Y. C., Kaffashian, S., Schilling, S., Beecham, G. W., Montine, T. J., Schellenberg, G. D., Kjartansson, O., Guðnason, V., Knopman, D. S., Griswold, M. E., Windham, B. G., Gottesman, R. F., Mosley, T. H., Schmidt, R., Saba, Y., Schmidt, H., Takeuchi, F., Yamaguchi, S., Nabika, T., Kato, N., Rajan, K. B., Aggarwal, N. T., De Jager, P. L., Evans, D. A., Psaty, B. M., Rotter, J. I., Rice, K., Lopez, O. L., Liao, J., Chen, C., Cheng, C. Y., Wong, T. Y., Ikram, M. K., van der Lee, S. J., Amin, N., Chouraki, V., DeStefano, A. L., Aparicio, H. J., Romero, J. R., Maillard, P., DeCarli, C., Wardlaw, J. M., Hernández, M. D. C. V., Luciano, M., Liewald, D., Deary, I. J., Starr, J. M., Bastin, M. E., Muñoz Maniega, S., Slagboom, P. E., Beekman, M., Deelen, J., Uh, H. W., Lemmens, R., Brodaty, H., Wright, M. J., Ames, D., Boncoraglio, G. B., Hopewell, J. C., Beecham, A. H., Blanton, S. H., Wright, C. B., Sacco, R. L., Wen, W., Thalamuthu, A., Armstrong, N. J., Chong, E., Schofield, P. R., Kwok, J. B., van der Grond, J., Stott, D. J., Ford, I., Jukema, J. W., Vernooij, M. W., Hofman, A., Uitterlinden, A. G., van der Lugt, A., Wittfeld, K., Grabe, H. J., Hosten, N., von Sarnowski, B., Völker, U., Levi, C., Jimenez-Conde, J., Sharma, P., Sudlow, C. L. M., Rosand, J., Woo, D., Cole, J. W., Meschia, J. F., Slowik, A., Thijs, V., Lindgren, A., Melander, O., Grewal, R. P., Rundek, T., Rexrode, K., Rothwell, P. M., Arnett, D. K., Jern, C., Johnson, J. A., Benavente, O. R., Wasssertheil-Smoller, S., Lee, J. M., Wong, Q., Mitchell, B. D., Rich, S. S., McArdle, P. F., Geerlings, M. I., van der Graaf, Y., de Bakker, P. I. W., Asselbergs, F. W., Srikanth, V., Thomson, R., McWhirter, R., Moran, C., Callisaya, M., Phan, T., Rutten-Jacobs, L. C. A., Bevan, S., Tzourio, C., Mather, K. A., Sachdev, P. S., van Duijn, C. M., Worrall, B. B., Dichgans, M., Kittner, S. J., Markus, H. S., Ikram, M. A., Fornage, M., Launer, L. J., Seshadri, S., Longstreth, W. T., Debette, S. (2019). Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology, . https://doi.org/10.1212/WNL.0000000000006851
Chauhan, Ganesh, et al. "Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting." Neurology vol. (2019). doi: https://doi.org/10.1212/WNL.0000000000006851
Chauhan G, Adams HHH, Satizabal CL, Bis JC, Teumer A, Sargurupremraj M, Hofer E, Trompet S, Hilal S, Smith AV, Jian X, Malik R, Traylor M, Pulit SL, Amouyel P, Mazoyer B, Zhu YC, Kaffashian S, Schilling S, Beecham GW, Montine TJ, Schellenberg GD, Kjartansson O, Guðnason V, Knopman DS, Griswold ME, Windham BG, Gottesman RF, Mosley TH, Schmidt R, Saba Y, Schmidt H, Takeuchi F, Yamaguchi S, Nabika T, Kato N, Rajan KB, Aggarwal NT, De Jager PL, Evans DA, Psaty BM, Rotter JI, Rice K, Lopez OL, Liao J, Chen C, Cheng CY, Wong TY, Ikram MK, van der Lee SJ, Amin N, Chouraki V, DeStefano AL, Aparicio HJ, Romero JR, Maillard P, DeCarli C, Wardlaw JM, Hernández MDCV, Luciano M, Liewald D, Deary IJ, Starr JM, Bastin ME, Muñoz Maniega S, Slagboom PE, Beekman M, Deelen J, Uh HW, Lemmens R, Brodaty H, Wright MJ, Ames D, Boncoraglio GB, Hopewell JC, Beecham AH, Blanton SH, Wright CB, Sacco RL, Wen W, Thalamuthu A, Armstrong NJ, Chong E, Schofield PR, Kwok JB, van der Grond J, Stott DJ, Ford I, Jukema JW, Vernooij MW, Hofman A, Uitterlinden AG, van der Lugt A, Wittfeld K, Grabe HJ, Hosten N, von Sarnowski B, Völker U, Levi C, Jimenez-Conde J, Sharma P, Sudlow CLM, Rosand J, Woo D, Cole JW, Meschia JF, Slowik A, Thijs V, Lindgren A, Melander O, Grewal RP, Rundek T, Rexrode K, Rothwell PM, Arnett DK, Jern C, Johnson JA, Benavente OR, Wasssertheil-Smoller S, Lee JM, Wong Q, Mitchell BD, Rich SS, McArdle PF, Geerlings MI, van der Graaf Y, de Bakker PIW, Asselbergs FW, Srikanth V, Thomson R, McWhirter R, Moran C, Callisaya M, Phan T, Rutten-Jacobs LCA, Bevan S, Tzourio C, Mather KA, Sachdev PS, van Duijn CM, Worrall BB, Dichgans M, Kittner SJ, Markus HS, Ikram MA, Fornage M, Launer LJ, Seshadri S, Longstreth WT, Debette S. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology. 2019 Jan 16; doi: 10.1212/WNL.0000000000006851. Epub 2019 Jan 16. PMID: 30651383; PMCID: PMC6369905.
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Epigenome-wide association study of mitochondrial genome copy number.

Human molecular genetics

Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Joehanes R, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C.
PMID: 34415308
Hum Mol Genet. 2021 Dec 27;31(2):309-319. doi: 10.1093/hmg/ddab240.

We conducted cohort- and race-specific epigenome-wide association analyses of mitochondrial deoxyribonucleic acid (mtDNA) copy number (mtDNA CN) measured in whole blood from participants of African and European origins in five cohorts (n = 6182, mean age = 57-67 years,...

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Wang P, Castellani CA, Yao J, et al. Epigenome-wide association study of mitochondrial genome copy number. Hum Mol Genet. 2021;31(2):309-319doi: 10.1093/hmg/ddab240.
Wang, P., Castellani, C. A., Yao, J., Huan, T., Bielak, L. F., Zhao, W., Haessler, J., Joehanes, R., Sun, X., Guo, X., Longchamps, R. J., Manson, J. E., Grove, M. L., Bressler, J., Taylor, K. D., Lappalainen, T., Kasela, S., Van Den Berg, D. J., Hou, L., Reiner, A., Liu, Y., Boerwinkle, E., Smith, J. A., Peyser, P. A., Fornage, M., Rich, S. S., Rotter, J. I., Kooperberg, C., Arking, D. E., Levy, D., Liu, C. (2021). Epigenome-wide association study of mitochondrial genome copy number. Human molecular genetics, 31(2), 309-319. https://doi.org/10.1093/hmg/ddab240
Wang, Penglong, et al. "Epigenome-wide association study of mitochondrial genome copy number." Human molecular genetics vol. 31,2 (2021): 309-319. doi: https://doi.org/10.1093/hmg/ddab240
Wang P, Castellani CA, Yao J, Huan T, Bielak LF, Zhao W, Haessler J, Joehanes R, Sun X, Guo X, Longchamps RJ, Manson JE, Grove ML, Bressler J, Taylor KD, Lappalainen T, Kasela S, Van Den Berg DJ, Hou L, Reiner A, Liu Y, Boerwinkle E, Smith JA, Peyser PA, Fornage M, Rich SS, Rotter JI, Kooperberg C, Arking DE, Levy D, Liu C. Epigenome-wide association study of mitochondrial genome copy number. Hum Mol Genet. 2021 Dec 27;31(2):309-319. doi: 10.1093/hmg/ddab240. PMID: 34415308; PMCID: PMC8742999.
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Epigenetic Age and the Risk of Incident Atrial Fibrillation.

Circulation

Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, Arking DE, Lin H, Heckbert SR, Prokic I, Ghanbari M, Skanes AC, Bartz TM, Perez MV, Taylor KD, Lubitz SA, Ellinor PT, Lunetta KL, Pankow JS, Paré G, Sotoodehnia N, Benjamin EJ, Horvath S, Marcus GM.
PMID: 34587750
Circulation. 2021 Dec 14;144(24):1899-1911. doi: 10.1161/CIRCULATIONAHA.121.056456. Epub 2021 Sep 30.

BACKGROUND: The most prominent risk factor for atrial fibrillation (AF) is chronological age; however, underlying mechanisms are unexplained. Algorithms using epigenetic modifications to the human genome effectively predict chronological age. Chronological and epigenetic predicted ages may diverge in a...

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Roberts JD, Vittinghoff E, Lu AT, et al. Epigenetic Age and the Risk of Incident Atrial Fibrillation. Circulation. 2021;144(24):1899-1911doi: 10.1161/CIRCULATIONAHA.121.056456.
Roberts, J. D., Vittinghoff, E., Lu, A. T., Alonso, A., Wang, B., Sitlani, C. M., Mohammadi-Shemirani, P., Fornage, M., Kornej, J., Brody, J. A., Arking, D. E., Lin, H., Heckbert, S. R., Prokic, I., Ghanbari, M., Skanes, A. C., Bartz, T. M., Perez, M. V., Taylor, K. D., Lubitz, S. A., Ellinor, P. T., Lunetta, K. L., Pankow, J. S., Paré, G., Sotoodehnia, N., Benjamin, E. J., Horvath, S., & Marcus, G. M. (2021). Epigenetic Age and the Risk of Incident Atrial Fibrillation. Circulation, 144(24), 1899-1911. https://doi.org/10.1161/CIRCULATIONAHA.121.056456
Roberts, Jason D, et al. "Epigenetic Age and the Risk of Incident Atrial Fibrillation." Circulation vol. 144,24 (2021): 1899-1911. doi: https://doi.org/10.1161/CIRCULATIONAHA.121.056456
Roberts JD, Vittinghoff E, Lu AT, Alonso A, Wang B, Sitlani CM, Mohammadi-Shemirani P, Fornage M, Kornej J, Brody JA, Arking DE, Lin H, Heckbert SR, Prokic I, Ghanbari M, Skanes AC, Bartz TM, Perez MV, Taylor KD, Lubitz SA, Ellinor PT, Lunetta KL, Pankow JS, Paré G, Sotoodehnia N, Benjamin EJ, Horvath S, Marcus GM. Epigenetic Age and the Risk of Incident Atrial Fibrillation. Circulation. 2021 Dec 14;144(24):1899-1911. doi: 10.1161/CIRCULATIONAHA.121.056456. Epub 2021 Sep 30. PMID: 34587750; PMCID: PMC8671333.
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Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation.

Circulation. Genomic and precision medicine

Yang Y, Bartz TM, Brown MR, Guo X, Zilhão NR, Trompet S, Weiss S, Yao J, Brody JA, Defilippi CR, Hoogeveen RC, Lin HJ, Gudnason V, Ballantyne CM, Dörr M, Jukema JW, Petersmann A, Psaty BM, Rotter JI, Boerwinkle E, Fornage M, Jun G, Yu B.
PMID: 34732054
Circ Genom Precis Med. 2021 Dec;14(6):e003460. doi: 10.1161/CIRCGEN.121.003460. Epub 2021 Nov 04.

BACKGROUND: Elevated cardiac troponin levels in blood are associated with increased risk of cardiovascular diseases and mortality. Cardiac troponin levels are heritable, but their genetic architecture remains elusive.METHODS: We conducted a transethnic genome-wide association analysis on high-sensitivity cTnT (cardiac...

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Yang Y, Bartz TM, Brown MR, et al. Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. Circ Genom Precis Med. 2021;14(6):e003460doi: 10.1161/CIRCGEN.121.003460.
Yang, Y., Bartz, T. M., Brown, M. R., Guo, X., Zilhão, N. R., Trompet, S., Weiss, S., Yao, J., Brody, J. A., Defilippi, C. R., Hoogeveen, R. C., Lin, H. J., Gudnason, V., Ballantyne, C. M., Dörr, M., Jukema, J. W., Petersmann, A., Psaty, B. M., Rotter, J. I., Boerwinkle, E., Fornage, M., Jun, G., & Yu, B. (2021). Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. Circulation. Genomic and precision medicine, 14(6), e003460. https://doi.org/10.1161/CIRCGEN.121.003460
Yang, Yunju, et al. "Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation." Circulation. Genomic and precision medicine vol. 14,6 (2021): e003460. doi: https://doi.org/10.1161/CIRCGEN.121.003460
Yang Y, Bartz TM, Brown MR, Guo X, Zilhão NR, Trompet S, Weiss S, Yao J, Brody JA, Defilippi CR, Hoogeveen RC, Lin HJ, Gudnason V, Ballantyne CM, Dörr M, Jukema JW, Petersmann A, Psaty BM, Rotter JI, Boerwinkle E, Fornage M, Jun G, Yu B. Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. Circ Genom Precis Med. 2021 Dec;14(6):e003460. doi: 10.1161/CIRCGEN.121.003460. Epub 2021 Nov 04. PMID: 34732054; PMCID: PMC8692416.
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Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults.

Circulation. Genomic and precision medicine

Olson NC, Raffield LM, Moxley AH, Miller-Fleming TW, Auer PL, Franceschini N, Ngo D, Thornton TA, Lange EM, Li Y, Nickerson DA, Zakai NA, Gerszten RE, Cox NJ, Correa A, Mohlke KL, Reiner AP.
PMID: 34706549
Circ Genom Precis Med. 2021 Dec;14(6):e003421. doi: 10.1161/CIRCGEN.121.003421. Epub 2021 Oct 28.

BACKGROUND: suPAR (Soluble urokinase plasminogen activator receptor) has emerged as an important biomarker of coagulation, inflammation, and cardiovascular disease (CVD) risk. The contribution of suPAR to CVD risk and its genetic influence in Black populations have not been evaluated.METHODS:...

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Olson NC, Raffield LM, Moxley AH, et al. Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults. Circ Genom Precis Med. 2021;14(6):e003421doi: 10.1161/CIRCGEN.121.003421.
Olson, N. C., Raffield, L. M., Moxley, A. H., Miller-Fleming, T. W., Auer, P. L., Franceschini, N., Ngo, D., Thornton, T. A., Lange, E. M., Li, Y., Nickerson, D. A., Zakai, N. A., Gerszten, R. E., Cox, N. J., Correa, A., Mohlke, K. L., & Reiner, A. P. (2021). Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults. Circulation. Genomic and precision medicine, 14(6), e003421. https://doi.org/10.1161/CIRCGEN.121.003421
Olson, Nels C, et al. "Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults." Circulation. Genomic and precision medicine vol. 14,6 (2021): e003421. doi: https://doi.org/10.1161/CIRCGEN.121.003421
Olson NC, Raffield LM, Moxley AH, Miller-Fleming TW, Auer PL, Franceschini N, Ngo D, Thornton TA, Lange EM, Li Y, Nickerson DA, Zakai NA, Gerszten RE, Cox NJ, Correa A, Mohlke KL, Reiner AP. Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults. Circ Genom Precis Med. 2021 Dec;14(6):e003421. doi: 10.1161/CIRCGEN.121.003421. Epub 2021 Oct 28. PMID: 34706549; PMCID: PMC8692389.
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Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries.

Genetics

Kwong AM, Blackwell TW, LeFaive J, de Andrade M, Barnard J, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Cade BE, Chasman DI, Chen H, Conomos MP, Cupples LA, Ellinor PT, Eng C, Gao Y, Guo X, Irvin MR, Kelly TN, Kim W, Kooperberg C, Lubitz SA, Mak ACY, Manichaikul AW, Mathias RA, Montasser ME, Montgomery CG, Musani S, Palmer ND, Peloso GM, Qiao D, Reiner AP, Roden DM, Shoemaker MB, Smith JA, Smith NL, Su JL, Tiwari HK, Weeks DE, Weiss ST, Scott LJ, Smith AV, Abecasis GR, Boehnke M, Kang HM.
PMID: 33720349
Genetics. 2021 May 17;218(1). doi: 10.1093/genetics/iyab044.

Traditional Hardy-Weinberg equilibrium (HWE) tests (the χ2 test and the exact test) have long been used as a metric for evaluating genotype quality, as technical artifacts leading to incorrect genotype calls often can be identified as deviations from HWE....

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Kwong AM, Blackwell TW, LeFaive J, et al. Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries. Genetics. 2021;218(1)doi: 10.1093/genetics/iyab044.
Kwong, A. M., Blackwell, T. W., LeFaive, J., de Andrade, M., Barnard, J., Barnes, K. C., Blangero, J., Boerwinkle, E., Burchard, E. G., Cade, B. E., Chasman, D. I., Chen, H., Conomos, M. P., Cupples, L. A., Ellinor, P. T., Eng, C., Gao, Y., Guo, X., Irvin, M. R., Kelly, T. N., Kim, W., Kooperberg, C., Lubitz, S. A., Mak, A. C. Y., Manichaikul, A. W., Mathias, R. A., Montasser, M. E., Montgomery, C. G., Musani, S., Palmer, N. D., Peloso, G. M., Qiao, D., Reiner, A. P., Roden, D. M., Shoemaker, M. B., Smith, J. A., Smith, N. L., Su, J. L., Tiwari, H. K., Weeks, D. E., Weiss, S. T., Scott, L. J., Smith, A. V., Abecasis, G. R., Boehnke, M., & Kang, H. M. (2021). Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries. Genetics, 218(1), . https://doi.org/10.1093/genetics/iyab044
Kwong, Alan M, et al. "Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries." Genetics vol. 218,1 (2021). doi: https://doi.org/10.1093/genetics/iyab044
Kwong AM, Blackwell TW, LeFaive J, de Andrade M, Barnard J, Barnes KC, Blangero J, Boerwinkle E, Burchard EG, Cade BE, Chasman DI, Chen H, Conomos MP, Cupples LA, Ellinor PT, Eng C, Gao Y, Guo X, Irvin MR, Kelly TN, Kim W, Kooperberg C, Lubitz SA, Mak ACY, Manichaikul AW, Mathias RA, Montasser ME, Montgomery CG, Musani S, Palmer ND, Peloso GM, Qiao D, Reiner AP, Roden DM, Shoemaker MB, Smith JA, Smith NL, Su JL, Tiwari HK, Weeks DE, Weiss ST, Scott LJ, Smith AV, Abecasis GR, Boehnke M, Kang HM. Robust, flexible, and scalable tests for Hardy-Weinberg equilibrium across diverse ancestries. Genetics. 2021 May 17;218(1). doi: 10.1093/genetics/iyab044. PMID: 33720349; PMCID: PMC8128395.
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