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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].

Cite
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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Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.

medRxiv : the preprint server for health sciences

Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S.
PMID: 34230933
medRxiv. 2021 Aug 07; doi: 10.1101/2021.06.28.21259529.

We investigated global patterns of genetic variation and signatures of natural selection at host genes relevant to SARS-CoV-2 infection (

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Zhang C, Verma A, Feng Y, et al. Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv. 2021;doi: 10.1101/2021.06.28.21259529.
Zhang, C., Verma, A., Feng, Y., Melo, M. C. R., McQuillan, M., Hansen, M., Lucas, A., Park, J., Ranciaro, A., Thompson, S., Rubel, M. A., Campbell, M. C., Beggs, W., Hirbo, J., Mpoloka, S. W., Mokone, G. G., Nyambo, T., Meskel, D. W., Belay, G., Fokunang, C., Njamnshi, A. K., Omar, S. A., Williams, S. M., Rader, D., Ritchie, M. D., de la Fuente Nunez, C., Sirugo, G., & Tishkoff, S. (2021). Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv : the preprint server for health sciences, . https://doi.org/10.1101/2021.06.28.21259529
Zhang, Chao, et al. "Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection." medRxiv : the preprint server for health sciences vol. (2021). doi: https://doi.org/10.1101/2021.06.28.21259529
Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S. Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv. 2021 Aug 07; doi: 10.1101/2021.06.28.21259529. PMID: 34230933; PMCID: PMC8259910.
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Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.

Mitochondrion

Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D.
PMID: 34303007
Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21.

We investigated the concordance of mitochondrial DNA heteroplasmic mutations (heteroplasmies) in 6745 maternal pairs of European (EA, n = 4718 pairs) and African (AA, n = 2027 pairs) Americans in whole blood. Mother-offspring pairs displayed the highest concordance rate,...

Cite
Liu C, Fetterman JL, Qian Y, et al. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021;60:33-42doi: 10.1016/j.mito.2021.07.004.
Liu, C., Fetterman, J. L., Qian, Y., Sun, X., Blackwell, T. W., Pitsillides, A., Cade, B. E., Wang, H., Raffield, L. M., Lange, L. A., Anugu, P., Abecasis, G., Adrienne Cupples, L., Redline, S., Correa, A., Vasan, R. S., Wilson, J. G., Ding, J., Levy, D. (2021). Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion, 6033-42. https://doi.org/10.1016/j.mito.2021.07.004
Liu, Chunyu, et al. "Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry." Mitochondrion vol. 60 (2021): 33-42. doi: https://doi.org/10.1016/j.mito.2021.07.004
Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21. PMID: 34303007; PMCID: PMC8464516.
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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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Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women.

Circulation

Honigberg MC, Zekavat SM, Niroula A, Griffin GK, Bick AG, Pirruccello JP, Nakao T, Whitsel EA, Farland LV, Laurie C, Kooperberg C, Manson JE, Gabriel S, Libby P, Reiner AP, Ebert BL, Natarajan P.
PMID: 33161765
Circulation. 2021 Feb 02;143(5):410-423. doi: 10.1161/CIRCULATIONAHA.120.051775. Epub 2020 Nov 09.

BACKGROUND: Premature menopause is an independent risk factor for cardiovascular disease in women, but mechanisms underlying this association remain unclear. Clonal hematopoiesis of indeterminate potential (CHIP), the age-related expansion of hematopoietic cells with leukemogenic mutations without detectable malignancy, is...

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Honigberg MC, Zekavat SM, Niroula A, et al. Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation. 2020;143(5):410-423doi: 10.1161/CIRCULATIONAHA.120.051775.
Honigberg, M. C., Zekavat, S. M., Niroula, A., Griffin, G. K., Bick, A. G., Pirruccello, J. P., Nakao, T., Whitsel, E. A., Farland, L. V., Laurie, C., Kooperberg, C., Manson, J. E., Gabriel, S., Libby, P., Reiner, A. P., Ebert, B. L., & Natarajan, P. (2021). Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation, 143(5), 410-423. https://doi.org/10.1161/CIRCULATIONAHA.120.051775
Honigberg, Michael C, et al. "Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women." Circulation vol. 143,5 (2021): 410-423. doi: https://doi.org/10.1161/CIRCULATIONAHA.120.051775
Honigberg MC, Zekavat SM, Niroula A, Griffin GK, Bick AG, Pirruccello JP, Nakao T, Whitsel EA, Farland LV, Laurie C, Kooperberg C, Manson JE, Gabriel S, Libby P, Reiner AP, Ebert BL, Natarajan P. Premature Menopause, Clonal Hematopoiesis, and Coronary Artery Disease in Postmenopausal Women. Circulation. 2021 Feb 02;143(5):410-423. doi: 10.1161/CIRCULATIONAHA.120.051775. Epub 2020 Nov 09. PMID: 33161765; PMCID: PMC7911856.
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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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Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry.

Mitochondrion

Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D.
PMID: 34303007
Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21.

We investigated the concordance of mitochondrial DNA heteroplasmic mutations (heteroplasmies) in 6745 maternal pairs of European (EA, n = 4718 pairs) and African (AA, n = 2027 pairs) Americans in whole blood. Mother-offspring pairs displayed the highest concordance rate,...

Cite
Liu C, Fetterman JL, Qian Y, et al. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021;60:33-42doi: 10.1016/j.mito.2021.07.004.
Liu, C., Fetterman, J. L., Qian, Y., Sun, X., Blackwell, T. W., Pitsillides, A., Cade, B. E., Wang, H., Raffield, L. M., Lange, L. A., Anugu, P., Abecasis, G., Adrienne Cupples, L., Redline, S., Correa, A., Vasan, R. S., Wilson, J. G., Ding, J., Levy, D. (2021). Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion, 6033-42. https://doi.org/10.1016/j.mito.2021.07.004
Liu, Chunyu, et al. "Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry." Mitochondrion vol. 60 (2021): 33-42. doi: https://doi.org/10.1016/j.mito.2021.07.004
Liu C, Fetterman JL, Qian Y, Sun X, Blackwell TW, Pitsillides A, Cade BE, Wang H, Raffield LM, Lange LA, Anugu P, Abecasis G, Adrienne Cupples L, Redline S, Correa A, Vasan RS, Wilson JG, Ding J, Levy D. Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry. Mitochondrion. 2021 Sep;60:33-42. doi: 10.1016/j.mito.2021.07.004. Epub 2021 Jul 21. PMID: 34303007; PMCID: PMC8464516.
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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...

Cite
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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Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.

medRxiv : the preprint server for health sciences

Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S.
PMID: 34230933
medRxiv. 2021 Aug 07; doi: 10.1101/2021.06.28.21259529.

We investigated global patterns of genetic variation and signatures of natural selection at host genes relevant to SARS-CoV-2 infection (

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Zhang C, Verma A, Feng Y, et al. Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv. 2021;doi: 10.1101/2021.06.28.21259529.
Zhang, C., Verma, A., Feng, Y., Melo, M. C. R., McQuillan, M., Hansen, M., Lucas, A., Park, J., Ranciaro, A., Thompson, S., Rubel, M. A., Campbell, M. C., Beggs, W., Hirbo, J., Mpoloka, S. W., Mokone, G. G., Nyambo, T., Meskel, D. W., Belay, G., Fokunang, C., Njamnshi, A. K., Omar, S. A., Williams, S. M., Rader, D., Ritchie, M. D., de la Fuente Nunez, C., Sirugo, G., & Tishkoff, S. (2021). Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv : the preprint server for health sciences, . https://doi.org/10.1101/2021.06.28.21259529
Zhang, Chao, et al. "Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection." medRxiv : the preprint server for health sciences vol. (2021). doi: https://doi.org/10.1101/2021.06.28.21259529
Zhang C, Verma A, Feng Y, Melo MCR, McQuillan M, Hansen M, Lucas A, Park J, Ranciaro A, Thompson S, Rubel MA, Campbell MC, Beggs W, Hirbo J, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Fokunang C, Njamnshi AK, Omar SA, Williams SM, Rader D, Ritchie MD, de la Fuente Nunez C, Sirugo G, Tishkoff S. Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection. medRxiv. 2021 Aug 07; doi: 10.1101/2021.06.28.21259529. PMID: 34230933; PMCID: PMC8259910.
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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...

Cite
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.
Copy Download .nbib Format: NLM
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...

Cite
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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Genetic and functional evidence links a missense variant in .

Science (New York, N.Y.)

Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, Ryan KA, Fang Q, Tzoneva G, Pefanis E, Hunt C, Tang Y, Lee L, Sztalryd-Woodle C, Mitchell BD, Healy M, Streeten EA, Taylor SI, O'Connell JR, Economides AN, Della Gatta G, Shuldiner AR.
PMID: 34855475
Science. 2021 Dec 03;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 02.

[Figure: see text].

Cite
Montasser ME, Van Hout CV, Miloscio L, et al. Genetic and functional evidence links a missense variant in . Science. 2021;374(6572):1221-1227doi: 10.1126/science.abe0348.
Montasser, M. E., Van Hout, C. V., Miloscio, L., Howard, A. D., Rosenberg, A., Callaway, M., Shen, B., Li, N., Locke, A. E., Verweij, N., De, T., Ferreira, M. A., Lotta, L. A., Baras, A., Daly, T. J., Hartford, S. A., Lin, W., Mao, Y., Ye, B., White, D., Gong, G., Perry, J. A., Ryan, K. A., Fang, Q., Tzoneva, G., Pefanis, E., Hunt, C., Tang, Y., Lee, L., Sztalryd-Woodle, C., Mitchell, B. D., Healy, M., Streeten, E. A., Taylor, S. I., O'Connell, J. R., Economides, A. N., Della Gatta, G., & Shuldiner, A. R. (2021). Genetic and functional evidence links a missense variant in . Science (New York, N.Y.), 374(6572), 1221-1227. https://doi.org/10.1126/science.abe0348
Montasser, May E, et al. "Genetic and functional evidence links a missense variant in ." Science (New York, N.Y.) vol. 374,6572 (2021): 1221-1227. doi: https://doi.org/10.1126/science.abe0348
Montasser ME, Van Hout CV, Miloscio L, Howard AD, Rosenberg A, Callaway M, Shen B, Li N, Locke AE, Verweij N, De T, Ferreira MA, Lotta LA, Baras A, Daly TJ, Hartford SA, Lin W, Mao Y, Ye B, White D, Gong G, Perry JA, Ryan KA, Fang Q, Tzoneva G, Pefanis E, Hunt C, Tang Y, Lee L, Sztalryd-Woodle C, Mitchell BD, Healy M, Streeten EA, Taylor SI, O'Connell JR, Economides AN, Della Gatta G, Shuldiner AR. Genetic and functional evidence links a missense variant in . Science. 2021 Dec 03;374(6572):1221-1227. doi: 10.1126/science.abe0348. Epub 2021 Dec 02. PMID: 34855475.
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