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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human genetics

Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE.
PMID: 34859289
Hum Genet. 2022 Jan;141(1):127-146. doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 02.

Mitochondrial DNA copy number (mtDNA-CN) measured from blood specimens is a minimally invasive marker of mitochondrial function that exhibits both inter-individual and intercellular variation. To identify genes involved in regulating mitochondrial function, we performed a genome-wide association study (GWAS)...

Cite
Longchamps RJ, Yang SY, Castellani CA, et al. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2021;141(1):127-146doi: 10.1007/s00439-021-02394-w.
Longchamps, R. J., Yang, S. Y., Castellani, C. A., Shi, W., Lane, J., Grove, M. L., Bartz, T. M., Sarnowski, C., Liu, C., Burrows, K., Guyatt, A. L., Gaunt, T. R., Kacprowski, T., Yang, J., De Jager, P. L., Yu, L., Bergman, A., Xia, R., Fornage, M., Feitosa, M. F., Wojczynski, M. K., Kraja, A. T., Province, M. A., Amin, N., Rivadeneira, F., Tiemeier, H., Uitterlinden, A. G., Broer, L., Van Meurs, J. B. J., Van Duijn, C. M., Raffield, L. M., Lange, L., Rich, S. S., Lemaitre, R. N., Goodarzi, M. O., Sitlani, C. M., Mak, A. C. Y., Bennett, D. A., Rodriguez, S., Murabito, J. M., Lunetta, K. L., Sotoodehnia, N., Atzmon, G., Ye, K., Barzilai, N., Brody, J. A., Psaty, B. M., Taylor, K. D., Rotter, J. I., Boerwinkle, E., Pankratz, N., & Arking, D. E. (2022). Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Human genetics, 141(1), 127-146. https://doi.org/10.1007/s00439-021-02394-w
Longchamps, R J, et al. "Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation." Human genetics vol. 141,1 (2022): 127-146. doi: https://doi.org/10.1007/s00439-021-02394-w
Longchamps RJ, Yang SY, Castellani CA, Shi W, Lane J, Grove ML, Bartz TM, Sarnowski C, Liu C, Burrows K, Guyatt AL, Gaunt TR, Kacprowski T, Yang J, De Jager PL, Yu L, Bergman A, Xia R, Fornage M, Feitosa MF, Wojczynski MK, Kraja AT, Province MA, Amin N, Rivadeneira F, Tiemeier H, Uitterlinden AG, Broer L, Van Meurs JBJ, Van Duijn CM, Raffield LM, Lange L, Rich SS, Lemaitre RN, Goodarzi MO, Sitlani CM, Mak ACY, Bennett DA, Rodriguez S, Murabito JM, Lunetta KL, Sotoodehnia N, Atzmon G, Ye K, Barzilai N, Brody JA, Psaty BM, Taylor KD, Rotter JI, Boerwinkle E, Pankratz N, Arking DE. Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation. Hum Genet. 2022 Jan;141(1):127-146. doi: 10.1007/s00439-021-02394-w. Epub 2021 Dec 02. PMID: 34859289.
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Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes.

American journal of human genetics

Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias RA, McGarvey ST, McPherson R, Meigs JB, Meitinger T, Melander O, Mendoza-Caamal E, Metcalf GA, Mi X, Mohlke KL, Montasser ME, Moon JY, Moreno-Macías H, Morrison AC, Muzny DM, Nelson SC, Nilsson PM, O'Connell JR, Orho-Melander M, Orozco L, Palmer CNA, Palmer ND, Park CJ, Park KS, Pedersen O, Peralta JM, Peyser PA, Post WS, Preuss M, Psaty BM, Qi Q, Rao DC, Redline S, Reiner AP, Revilla-Monsalve C, Rich SS, Samani N, Schunkert H, Schurmann C, Seo D, Seo JS, Sim X, Sladek R, Small KS, So WY, Stilp AM, Tai ES, Tam CHT, Taylor KD, Teo YY, Thameem F, Tomlinson B, Tsai MY, Tuomi T, Tuomilehto J, Tusié-Luna T, Udler MS, van Dam RM, Vasan RS, Viaud Martinez KA, Wang FF, Wang X, Watkins H, Weeks DE, Wilson JG, Witte DR, Wong TY, Yanek LR, Kathiresan S, Rader DJ, Rotter JI, Boehnke M, McCarthy MI, Willer CJ, Natarajan P, Flannick JA, Khera AV, Peloso GM.
PMID: 34932938
Am J Hum Genet. 2022 Jan 06;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20.

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted damaging coding variation by using...

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Hindy G, Dornbos P, Chaffin MD, et al. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2021;109(1):81-96doi: 10.1016/j.ajhg.2021.11.021.
Hindy, G., Dornbos, P., Chaffin, M. D., Liu, D. J., Wang, M., Selvaraj, M. S., Zhang, D., Park, J., Aguilar-Salinas, C. A., Antonacci-Fulton, L., Ardissino, D., Arnett, D. K., Aslibekyan, S., Atzmon, G., Ballantyne, C. M., Barajas-Olmos, F., Barzilai, N., Becker, L. C., Bielak, L. F., Bis, J. C., Blangero, J., Boerwinkle, E., Bonnycastle, L. L., Bottinger, E., Bowden, D. W., Bown, M. J., Brody, J. A., Broome, J. G., Burtt, N. P., Cade, B. E., Centeno-Cruz, F., Chan, E., Chang, Y. C., Chen, Y. I., Cheng, C. Y., Choi, W. J., Chowdhury, R., Contreras-Cubas, C., Córdova, E. J., Correa, A., Cupples, L. A., Curran, J. E., Danesh, J., de Vries, P. S., DeFronzo, R. A., Doddapaneni, H., Duggirala, R., Dutcher, S. K., Ellinor, P. T., Emery, L. S., Florez, J. C., Fornage, M., Freedman, B. I., Fuster, V., Garay-Sevilla, M. E., García-Ortiz, H., Germer, S., Gibbs, R. A., Gieger, C., Glaser, B., Gonzalez, C., Gonzalez-Villalpando, M. E., Graff, M., Graham, S. E., Grarup, N., Groop, L. C., Guo, X., Gupta, N., Han, S., Hanis, C. L., Hansen, T., He, J., Heard-Costa, N. L., Hung, Y. J., Hwang, M. Y., Irvin, M. R., Islas-Andrade, S., Jarvik, G. P., Kang, H. M., Kardia, S. L. R., Kelly, T., Kenny, E. E., Khan, A. T., Kim, B. J., Kim, R. W., Kim, Y. J., Koistinen, H. A., Kooperberg, C., Kuusisto, J., Kwak, S. H., Laakso, M., Lange, L. A., Lee, J., Lee, J., Lee, S., Lehman, D. M., Lemaitre, R. N., Linneberg, A., Liu, J., Loos, R. J. F., Lubitz, S. A., Lyssenko, V., Ma, R. C. W., Martin, L. W., Martínez-Hernández, A., Mathias, R. A., McGarvey, S. T., McPherson, R., Meigs, J. B., Meitinger, T., Melander, O., Mendoza-Caamal, E., Metcalf, G. A., Mi, X., Mohlke, K. L., Montasser, M. E., Moon, J. Y., Moreno-Macías, H., Morrison, A. C., Muzny, D. M., Nelson, S. C., Nilsson, P. M., O'Connell, J. R., Orho-Melander, M., Orozco, L., Palmer, C. N. A., Palmer, N. D., Park, C. J., Park, K. S., Pedersen, O., Peralta, J. M., Peyser, P. A., Post, W. S., Preuss, M., Psaty, B. M., Qi, Q., Rao, D. C., Redline, S., Reiner, A. P., Revilla-Monsalve, C., Rich, S. S., Samani, N., Schunkert, H., Schurmann, C., Seo, D., Seo, J. S., Sim, X., Sladek, R., Small, K. S., So, W. Y., Stilp, A. M., Tai, E. S., Tam, C. H. T., Taylor, K. D., Teo, Y. Y., Thameem, F., Tomlinson, B., Tsai, M. Y., Tuomi, T., Tuomilehto, J., Tusié-Luna, T., Udler, M. S., van Dam, R. M., Vasan, R. S., Viaud Martinez, K. A., Wang, F. F., Wang, X., Watkins, H., Weeks, D. E., Wilson, J. G., Witte, D. R., Wong, T. Y., Yanek, L. R., Kathiresan, S., Rader, D. J., Rotter, J. I., Boehnke, M., McCarthy, M. I., Willer, C. J., Natarajan, P., Flannick, J. A., Khera, A. V., & Peloso, G. M. (2022). Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. American journal of human genetics, 109(1), 81-96. https://doi.org/10.1016/j.ajhg.2021.11.021
Hindy, George, et al. "Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes." American journal of human genetics vol. 109,1 (2022): 81-96. doi: https://doi.org/10.1016/j.ajhg.2021.11.021
Hindy G, Dornbos P, Chaffin MD, Liu DJ, Wang M, Selvaraj MS, Zhang D, Park J, Aguilar-Salinas CA, Antonacci-Fulton L, Ardissino D, Arnett DK, Aslibekyan S, Atzmon G, Ballantyne CM, Barajas-Olmos F, Barzilai N, Becker LC, Bielak LF, Bis JC, Blangero J, Boerwinkle E, Bonnycastle LL, Bottinger E, Bowden DW, Bown MJ, Brody JA, Broome JG, Burtt NP, Cade BE, Centeno-Cruz F, Chan E, Chang YC, Chen YI, Cheng CY, Choi WJ, Chowdhury R, Contreras-Cubas C, Córdova EJ, Correa A, Cupples LA, Curran JE, Danesh J, de Vries PS, DeFronzo RA, Doddapaneni H, Duggirala R, Dutcher SK, Ellinor PT, Emery LS, Florez JC, Fornage M, Freedman BI, Fuster V, Garay-Sevilla ME, García-Ortiz H, Germer S, Gibbs RA, Gieger C, Glaser B, Gonzalez C, Gonzalez-Villalpando ME, Graff M, Graham SE, Grarup N, Groop LC, Guo X, Gupta N, Han S, Hanis CL, Hansen T, He J, Heard-Costa NL, Hung YJ, Hwang MY, Irvin MR, Islas-Andrade S, Jarvik GP, Kang HM, Kardia SLR, Kelly T, Kenny EE, Khan AT, Kim BJ, Kim RW, Kim YJ, Koistinen HA, Kooperberg C, Kuusisto J, Kwak SH, Laakso M, Lange LA, Lee J, Lee J, Lee S, Lehman DM, Lemaitre RN, Linneberg A, Liu J, Loos RJF, Lubitz SA, Lyssenko V, Ma RCW, Martin LW, Martínez-Hernández A, Mathias RA, McGarvey ST, McPherson R, Meigs JB, Meitinger T, Melander O, Mendoza-Caamal E, Metcalf GA, Mi X, Mohlke KL, Montasser ME, Moon JY, Moreno-Macías H, Morrison AC, Muzny DM, Nelson SC, Nilsson PM, O'Connell JR, Orho-Melander M, Orozco L, Palmer CNA, Palmer ND, Park CJ, Park KS, Pedersen O, Peralta JM, Peyser PA, Post WS, Preuss M, Psaty BM, Qi Q, Rao DC, Redline S, Reiner AP, Revilla-Monsalve C, Rich SS, Samani N, Schunkert H, Schurmann C, Seo D, Seo JS, Sim X, Sladek R, Small KS, So WY, Stilp AM, Tai ES, Tam CHT, Taylor KD, Teo YY, Thameem F, Tomlinson B, Tsai MY, Tuomi T, Tuomilehto J, Tusié-Luna T, Udler MS, van Dam RM, Vasan RS, Viaud Martinez KA, Wang FF, Wang X, Watkins H, Weeks DE, Wilson JG, Witte DR, Wong TY, Yanek LR, Kathiresan S, Rader DJ, Rotter JI, Boehnke M, McCarthy MI, Willer CJ, Natarajan P, Flannick JA, Khera AV, Peloso GM. Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes. Am J Hum Genet. 2022 Jan 06;109(1):81-96. doi: 10.1016/j.ajhg.2021.11.021. Epub 2021 Dec 20. PMID: 34932938.
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Strategies to Estimate Prevalence of SARS-CoV-2 Antibodies in a Texas Vulnerable Population: Results From Phase I of the Texas Coronavirus Antibody Response Survey.

Frontiers in public health

Valerio-Shewmaker MA, DeSantis S, Swartz M, Yaseen A, Gonzalez MO, Kohl HWI, Kelder SH, Messiah SE, Aguillard KA, Breaux C, Wu L, Shuford J, Pont S, Lakey D, Boerwinkle E.
PMID: 34970525
Front Public Health. 2021 Dec 14;9:753487. doi: 10.3389/fpubh.2021.753487. eCollection 2021.

No abstract available.

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Valerio-Shewmaker MA, DeSantis S, Swartz M, et al. Strategies to Estimate Prevalence of SARS-CoV-2 Antibodies in a Texas Vulnerable Population: Results From Phase I of the Texas Coronavirus Antibody Response Survey. Front Public Health. 2021;9:753487doi: 10.3389/fpubh.2021.753487.
Valerio-Shewmaker, M. A., DeSantis, S., Swartz, M., Yaseen, A., Gonzalez, M. O., Kohl, H. W. I., Kelder, S. H., Messiah, S. E., Aguillard, K. A., Breaux, C., Wu, L., Shuford, J., Pont, S., Lakey, D., & Boerwinkle, E. (2021). Strategies to Estimate Prevalence of SARS-CoV-2 Antibodies in a Texas Vulnerable Population: Results From Phase I of the Texas Coronavirus Antibody Response Survey. Frontiers in public health, 9753487. https://doi.org/10.3389/fpubh.2021.753487
Valerio-Shewmaker, Melissa A, et al. "Strategies to Estimate Prevalence of SARS-CoV-2 Antibodies in a Texas Vulnerable Population: Results From Phase I of the Texas Coronavirus Antibody Response Survey." Frontiers in public health vol. 9 (2021): 753487. doi: https://doi.org/10.3389/fpubh.2021.753487
Valerio-Shewmaker MA, DeSantis S, Swartz M, Yaseen A, Gonzalez MO, Kohl HWI, Kelder SH, Messiah SE, Aguillard KA, Breaux C, Wu L, Shuford J, Pont S, Lakey D, Boerwinkle E. Strategies to Estimate Prevalence of SARS-CoV-2 Antibodies in a Texas Vulnerable Population: Results From Phase I of the Texas Coronavirus Antibody Response Survey. Front Public Health. 2021 Dec 14;9:753487. doi: 10.3389/fpubh.2021.753487. eCollection 2021. PMID: 34970525; PMCID: PMC8712464.
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Metabolome-wide association study of estimated glomerular filtration rates in Hispanics.

Kidney international

Lin BM, Zhang Y, Yu B, Boerwinkle E, Thygarajan B, Yunes M, Daviglus ML, Qi Q, Kaplan R, Lash J, Cai J, Sofer T, Franceschini N.
PMID: 34774559
Kidney Int. 2022 Jan;101(1):144-151. doi: 10.1016/j.kint.2021.09.032. Epub 2021 Nov 10.

Circulating metabolites are by-products of endogenous metabolism or exogenous sources and may inform disease states. Our study aimed to identify the source of variability in the association of metabolites with estimated glomerular filtration rate (eGFR) in Hispanics/Latinos with low...

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Lin BM, Zhang Y, Yu B, et al. Metabolome-wide association study of estimated glomerular filtration rates in Hispanics. Kidney Int. 2021;101(1):144-151doi: 10.1016/j.kint.2021.09.032.
Lin, B. M., Zhang, Y., Yu, B., Boerwinkle, E., Thygarajan, B., Yunes, M., Daviglus, M. L., Qi, Q., Kaplan, R., Lash, J., Cai, J., Sofer, T., & Franceschini, N. (2022). Metabolome-wide association study of estimated glomerular filtration rates in Hispanics. Kidney international, 101(1), 144-151. https://doi.org/10.1016/j.kint.2021.09.032
Lin, Bridget M, et al. "Metabolome-wide association study of estimated glomerular filtration rates in Hispanics." Kidney international vol. 101,1 (2022): 144-151. doi: https://doi.org/10.1016/j.kint.2021.09.032
Lin BM, Zhang Y, Yu B, Boerwinkle E, Thygarajan B, Yunes M, Daviglus ML, Qi Q, Kaplan R, Lash J, Cai J, Sofer T, Franceschini N. Metabolome-wide association study of estimated glomerular filtration rates in Hispanics. Kidney Int. 2022 Jan;101(1):144-151. doi: 10.1016/j.kint.2021.09.032. Epub 2021 Nov 10. PMID: 34774559; PMCID: PMC8741745.
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[No title available]

Clinical journal of the American Society of Nephrology : CJASN

Luo S, Surapaneni A, Zheng Z, Rhee EP, Coresh J, Hung AM, Nadkarni GN, Yu B, Boerwinkle E, Tin A, Arking DE, Steinbrenner I, Schlosser P, Köttgen A, Grams ME.
PMID: 33380473
Clin J Am Soc Nephrol. 2020 Dec 31;16(1):37-47. doi: 10.2215/CJN.08600520.

BACKGROUND AND OBJECTIVES: Genetic variants in DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We conducted analyses among participants with genetic and/or serum metabolomic data in the African American Study of Kidney Disease and Hypertension (AASK; RESULTS: Of 31 N-acetylated amino acids...

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Luo S, Surapaneni A, Zheng Z, et al. . Clin J Am Soc Nephrol. 2020;16(1):37-47doi: 10.2215/CJN.08600520.
Luo, S., Surapaneni, A., Zheng, Z., Rhee, E. P., Coresh, J., Hung, A. M., Nadkarni, G. N., Yu, B., Boerwinkle, E., Tin, A., Arking, D. E., Steinbrenner, I., Schlosser, P., Köttgen, A., & Grams, M. E. (2020). . Clinical journal of the American Society of Nephrology : CJASN, 16(1), 37-47. https://doi.org/10.2215/CJN.08600520
Luo, Shengyuan, et al. "." Clinical journal of the American Society of Nephrology : CJASN vol. 16,1 (2020): 37-47. doi: https://doi.org/10.2215/CJN.08600520
Luo S, Surapaneni A, Zheng Z, Rhee EP, Coresh J, Hung AM, Nadkarni GN, Yu B, Boerwinkle E, Tin A, Arking DE, Steinbrenner I, Schlosser P, Köttgen A, Grams ME. . Clin J Am Soc Nephrol. 2020 Dec 31;16(1):37-47. doi: 10.2215/CJN.08600520. PMID: 33380473; PMCID: PMC7792648.
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Associations Between Carotid Artery Plaque Burden, Plaque Characteristics, and Cardiovascular Events: The ARIC Carotid Magnetic Resonance Imaging Study.

JAMA cardiology

Brunner G, Virani SS, Sun W, Liu L, Dodge RC, Nambi V, Coresh J, Mosley TH, Sharrett AR, Boerwinkle E, Ballantyne CM, Wasserman BA.
PMID: 33206125
JAMA Cardiol. 2021 Jan 01;6(1):79-86. doi: 10.1001/jamacardio.2020.5573.

IMPORTANCE: It remains unknown whether in an asymptomatic community-based cohort magnetic resonance imaging (MRI) measures of plaque characteristics are independently associated with incident cardiovascular disease (CVD) events when adjusted for carotid artery (CA) wall thickness, a measure of plaque...

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Brunner G, Virani SS, Sun W, et al. Associations Between Carotid Artery Plaque Burden, Plaque Characteristics, and Cardiovascular Events: The ARIC Carotid Magnetic Resonance Imaging Study. JAMA Cardiol. 2021;6(1):79-86doi: 10.1001/jamacardio.2020.5573.
Brunner, G., Virani, S. S., Sun, W., Liu, L., Dodge, R. C., Nambi, V., Coresh, J., Mosley, T. H., Sharrett, A. R., Boerwinkle, E., Ballantyne, C. M., & Wasserman, B. A. (2021). Associations Between Carotid Artery Plaque Burden, Plaque Characteristics, and Cardiovascular Events: The ARIC Carotid Magnetic Resonance Imaging Study. JAMA cardiology, 6(1), 79-86. https://doi.org/10.1001/jamacardio.2020.5573
Brunner, Gerd, et al. "Associations Between Carotid Artery Plaque Burden, Plaque Characteristics, and Cardiovascular Events: The ARIC Carotid Magnetic Resonance Imaging Study." JAMA cardiology vol. 6,1 (2021): 79-86. doi: https://doi.org/10.1001/jamacardio.2020.5573
Brunner G, Virani SS, Sun W, Liu L, Dodge RC, Nambi V, Coresh J, Mosley TH, Sharrett AR, Boerwinkle E, Ballantyne CM, Wasserman BA. Associations Between Carotid Artery Plaque Burden, Plaque Characteristics, and Cardiovascular Events: The ARIC Carotid Magnetic Resonance Imaging Study. JAMA Cardiol. 2021 Jan 01;6(1):79-86. doi: 10.1001/jamacardio.2020.5573. PMID: 33206125; PMCID: PMC7675218.
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Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study.

Journal of personalized medicine

Pines AR, Sussman B, Wyckoff SN, McCarty PJ, Bunch R, Frye RE, Boerwinkle VL.
PMID: 34575631
J Pers Med. 2021 Aug 28;11(9). doi: 10.3390/jpm11090854.

Resting-state functional magnetic resonance imaging (rs-fMRI) has the potential to investigate abnormalities in brain network structure and connectivity on an individual level in neurodevelopmental disorders, such as autism spectrum disorder (ASD), paving the way toward using this technology for...

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Pines AR, Sussman B, Wyckoff SN, et al. Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study. J Pers Med. 2021;11(9)doi: 10.3390/jpm11090854.
Pines, A. R., Sussman, B., Wyckoff, S. N., McCarty, P. J., Bunch, R., Frye, R. E., & Boerwinkle, V. L. (2021). Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study. Journal of personalized medicine, 11(9), . https://doi.org/10.3390/jpm11090854
Pines, Andrew R, et al. "Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study." Journal of personalized medicine vol. 11,9 (2021). doi: https://doi.org/10.3390/jpm11090854
Pines AR, Sussman B, Wyckoff SN, McCarty PJ, Bunch R, Frye RE, Boerwinkle VL. Locked-in Intact Functional Networks in Children with Autism Spectrum Disorder: A Case-Control Study. J Pers Med. 2021 Aug 28;11(9). doi: 10.3390/jpm11090854. PMID: 34575631; PMCID: PMC8465896.
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Association of low-frequency and rare coding variants with information processing speed.

Translational psychiatry

Bressler J, Davies G, Smith AV, Saba Y, Bis JC, Jian X, Hayward C, Yanek L, Smith JA, Mirza SS, Wang R, Adams HHH, Becker D, Boerwinkle E, Campbell A, Cox SR, Eiriksdottir G, Fawns-Ritchie C, Gottesman RF, Grove ML, Guo X, Hofer E, Kardia SLR, Knol MJ, Koini M, Lopez OL, Marioni RE, Nyquist P, Pattie A, Polasek O, Porteous DJ, Rudan I, Satizabal CL, Schmidt H, Schmidt R, Sidney S, Simino J, Smith BH, Turner ST, van der Lee SJ, Ware EB, Whitmer RA, Yaffe K, Yang Q, Zhao W, Gudnason V, Launer LJ, Fitzpatrick AL, Psaty BM, Fornage M, Arfan Ikram M, van Duijn CM, Seshadri S, Mosley TH, Deary IJ.
PMID: 34864818
Transl Psychiatry. 2021 Dec 04;11(1):613. doi: 10.1038/s41398-021-01736-6.

Measures of information processing speed vary between individuals and decline with age. Studies of aging twins suggest heritability may be as high as 67%. The Illumina HumanExome Bead Chip genotyping array was used to examine the association of rare...

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Bressler J, Davies G, Smith AV, et al. Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2021;11(1):613doi: 10.1038/s41398-021-01736-6.
Bressler, J., Davies, G., Smith, A. V., Saba, Y., Bis, J. C., Jian, X., Hayward, C., Yanek, L., Smith, J. A., Mirza, S. S., Wang, R., Adams, H. H. H., Becker, D., Boerwinkle, E., Campbell, A., Cox, S. R., Eiriksdottir, G., Fawns-Ritchie, C., Gottesman, R. F., Grove, M. L., Guo, X., Hofer, E., Kardia, S. L. R., Knol, M. J., Koini, M., Lopez, O. L., Marioni, R. E., Nyquist, P., Pattie, A., Polasek, O., Porteous, D. J., Rudan, I., Satizabal, C. L., Schmidt, H., Schmidt, R., Sidney, S., Simino, J., Smith, B. H., Turner, S. T., van der Lee, S. J., Ware, E. B., Whitmer, R. A., Yaffe, K., Yang, Q., Zhao, W., Gudnason, V., Launer, L. J., Fitzpatrick, A. L., Psaty, B. M., Fornage, M., Arfan Ikram, M., van Duijn, C. M., Seshadri, S., Mosley, T. H., & Deary, I. J. (2021). Association of low-frequency and rare coding variants with information processing speed. Translational psychiatry, 11(1), 613. https://doi.org/10.1038/s41398-021-01736-6
Bressler, Jan, et al. "Association of low-frequency and rare coding variants with information processing speed." Translational psychiatry vol. 11,1 (2021): 613. doi: https://doi.org/10.1038/s41398-021-01736-6
Bressler J, Davies G, Smith AV, Saba Y, Bis JC, Jian X, Hayward C, Yanek L, Smith JA, Mirza SS, Wang R, Adams HHH, Becker D, Boerwinkle E, Campbell A, Cox SR, Eiriksdottir G, Fawns-Ritchie C, Gottesman RF, Grove ML, Guo X, Hofer E, Kardia SLR, Knol MJ, Koini M, Lopez OL, Marioni RE, Nyquist P, Pattie A, Polasek O, Porteous DJ, Rudan I, Satizabal CL, Schmidt H, Schmidt R, Sidney S, Simino J, Smith BH, Turner ST, van der Lee SJ, Ware EB, Whitmer RA, Yaffe K, Yang Q, Zhao W, Gudnason V, Launer LJ, Fitzpatrick AL, Psaty BM, Fornage M, Arfan Ikram M, van Duijn CM, Seshadri S, Mosley TH, Deary IJ. Association of low-frequency and rare coding variants with information processing speed. Transl Psychiatry. 2021 Dec 04;11(1):613. doi: 10.1038/s41398-021-01736-6. PMID: 34864818; PMCID: PMC8643353.
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Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits.

HGG advances

Sun D, Richard M, Musani SK, Sung YJ, Winkler TW, Schwander K, Chai JF, Guo X, Kilpeläinen TO, Vojinovic D, Aschard H, Bartz TM, Bielak LF, Brown MR, Chitrala K, Hartwig FP, Horimoto ARVR, Liu Y, Manning AK, Noordam R, Smith AV, Harris SE, Kühnel B, Lyytikäinen LP, Nolte IM, Rauramaa R, van der Most PJ, Wang R, Ware EB, Weiss S, Wen W, Yanek LR, Arking DE, Arnett DK, Barac A, Boerwinkle E, Broeckel U, Chakravarti A, Chen YI, Cupples LA, Davigulus ML, de Las Fuentes L, de Mutsert R, de Vries PS, Delaney JAC, Roux AVD, Dörr M, Faul JD, Fretts AM, Gallo LC, Grabe HJ, Gu CC, Harris TB, Hartman CCA, Heikkinen S, Ikram MA, Isasi C, Johnson WC, Jonas JB, Kaplan RC, Komulainen P, Krieger JE, Levy D, Liu J, Lohman K, Luik AI, Martin LW, Meitinger T, Milaneschi Y, O'Connell JR, Palmas WR, Peters A, Peyser PA, Pulkki-Råback L, Raffel LJ, Reiner AP, Rice K, Robinson JG, Rosendaal FR, Schmidt CO, Schreiner PJ, Schwettmann L, Shikany JM, Shu XO, Sidney S, Sims M, Smith JA, Sotoodehnia N, Strauch K, Tai ES, Taylor K, Uitterlinden AG, van Duijn CM, Waldenberger M, Wee HL, Wei WB, Wilson G, Xuan D, Yao J, Zeng D, Zhao W, Zhu X, Zonderman AB, Becker DM, Deary IJ, Gieger C, Lakka TA, Lehtimäki T, North KE, Oldehinkel AJ, Penninx BWJH, Snieder H, Wang YX, Weir DR, Zheng W, Evans MK, Gauderman WJ, Gudnason V, Horta BL, Liu CT, Mook-Kanamori DO, Morrison AC, Pereira AC, Psaty BM, Amin N, Fox ER, Kooperberg C, Sim X, Bierut L, Rotter JI, Kardia SLR, Franceschini N, Rao DC, Fornage M.
PMID: 34734193
HGG Adv. 2021 Jan 14;2(1). doi: 10.1016/j.xhgg.2020.100013. Epub 2020 Oct 31.

Psychological and social factors are known to influence blood pressure (BP) and risk of hypertension and associated cardiovascular diseases. To identify novel BP loci, we carried out genome-wide association meta-analyses of systolic, diastolic, pulse, and mean arterial BP taking...

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Sun D, Richard M, Musani SK, et al. Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. HGG Adv. 2020;2(1)doi: 10.1016/j.xhgg.2020.100013.
Sun, D., Richard, M., Musani, S. K., Sung, Y. J., Winkler, T. W., Schwander, K., Chai, J. F., Guo, X., Kilpeläinen, T. O., Vojinovic, D., Aschard, H., Bartz, T. M., Bielak, L. F., Brown, M. R., Chitrala, K., Hartwig, F. P., Horimoto, A. R. V. R., Liu, Y., Manning, A. K., Noordam, R., Smith, A. V., Harris, S. E., Kühnel, B., Lyytikäinen, L. P., Nolte, I. M., Rauramaa, R., van der Most, P. J., Wang, R., Ware, E. B., Weiss, S., Wen, W., Yanek, L. R., Arking, D. E., Arnett, D. K., Barac, A., Boerwinkle, E., Broeckel, U., Chakravarti, A., Chen, Y. I., Cupples, L. A., Davigulus, M. L., de Las Fuentes, L., de Mutsert, R., de Vries, P. S., Delaney, J. A. C., Roux, A. V. D., Dörr, M., Faul, J. D., Fretts, A. M., Gallo, L. C., Grabe, H. J., Gu, C. C., Harris, T. B., Hartman, C. C. A., Heikkinen, S., Ikram, M. A., Isasi, C., Johnson, W. C., Jonas, J. B., Kaplan, R. C., Komulainen, P., Krieger, J. E., Levy, D., Liu, J., Lohman, K., Luik, A. I., Martin, L. W., Meitinger, T., Milaneschi, Y., O'Connell, J. R., Palmas, W. R., Peters, A., Peyser, P. A., Pulkki-Råback, L., Raffel, L. J., Reiner, A. P., Rice, K., Robinson, J. G., Rosendaal, F. R., Schmidt, C. O., Schreiner, P. J., Schwettmann, L., Shikany, J. M., Shu, X. O., Sidney, S., Sims, M., Smith, J. A., Sotoodehnia, N., Strauch, K., Tai, E. S., Taylor, K., Uitterlinden, A. G., van Duijn, C. M., Waldenberger, M., Wee, H. L., Wei, W. B., Wilson, G., Xuan, D., Yao, J., Zeng, D., Zhao, W., Zhu, X., Zonderman, A. B., Becker, D. M., Deary, I. J., Gieger, C., Lakka, T. A., Lehtimäki, T., North, K. E., Oldehinkel, A. J., Penninx, B. W. J. H., Snieder, H., Wang, Y. X., Weir, D. R., Zheng, W., Evans, M. K., Gauderman, W. J., Gudnason, V., Horta, B. L., Liu, C. T., Mook-Kanamori, D. O., Morrison, A. C., Pereira, A. C., Psaty, B. M., Amin, N., Fox, E. R., Kooperberg, C., Sim, X., Bierut, L., Rotter, J. I., Kardia, S. L. R., Franceschini, N., Rao, D. C., & Fornage, M. (2021). Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. HGG advances, 2(1), . https://doi.org/10.1016/j.xhgg.2020.100013
Sun, Daokun, et al. "Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits." HGG advances vol. 2,1 (2021). doi: https://doi.org/10.1016/j.xhgg.2020.100013
Sun D, Richard M, Musani SK, Sung YJ, Winkler TW, Schwander K, Chai JF, Guo X, Kilpeläinen TO, Vojinovic D, Aschard H, Bartz TM, Bielak LF, Brown MR, Chitrala K, Hartwig FP, Horimoto ARVR, Liu Y, Manning AK, Noordam R, Smith AV, Harris SE, Kühnel B, Lyytikäinen LP, Nolte IM, Rauramaa R, van der Most PJ, Wang R, Ware EB, Weiss S, Wen W, Yanek LR, Arking DE, Arnett DK, Barac A, Boerwinkle E, Broeckel U, Chakravarti A, Chen YI, Cupples LA, Davigulus ML, de Las Fuentes L, de Mutsert R, de Vries PS, Delaney JAC, Roux AVD, Dörr M, Faul JD, Fretts AM, Gallo LC, Grabe HJ, Gu CC, Harris TB, Hartman CCA, Heikkinen S, Ikram MA, Isasi C, Johnson WC, Jonas JB, Kaplan RC, Komulainen P, Krieger JE, Levy D, Liu J, Lohman K, Luik AI, Martin LW, Meitinger T, Milaneschi Y, O'Connell JR, Palmas WR, Peters A, Peyser PA, Pulkki-Råback L, Raffel LJ, Reiner AP, Rice K, Robinson JG, Rosendaal FR, Schmidt CO, Schreiner PJ, Schwettmann L, Shikany JM, Shu XO, Sidney S, Sims M, Smith JA, Sotoodehnia N, Strauch K, Tai ES, Taylor K, Uitterlinden AG, van Duijn CM, Waldenberger M, Wee HL, Wei WB, Wilson G, Xuan D, Yao J, Zeng D, Zhao W, Zhu X, Zonderman AB, Becker DM, Deary IJ, Gieger C, Lakka TA, Lehtimäki T, North KE, Oldehinkel AJ, Penninx BWJH, Snieder H, Wang YX, Weir DR, Zheng W, Evans MK, Gauderman WJ, Gudnason V, Horta BL, Liu CT, Mook-Kanamori DO, Morrison AC, Pereira AC, Psaty BM, Amin N, Fox ER, Kooperberg C, Sim X, Bierut L, Rotter JI, Kardia SLR, Franceschini N, Rao DC, Fornage M. Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. HGG Adv. 2021 Jan 14;2(1). doi: 10.1016/j.xhgg.2020.100013. Epub 2020 Oct 31. PMID: 34734193; PMCID: PMC8562625.
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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, Zilhao NR, Trompet S, Weiss S, Yao J, Brody JA, Defilippi CR, Hoogeveen RC, Lin HJ, Gudnason V, Ballantyne CM, Dorr M, Jukema JW, Petersmann A, Psaty BM, Rotter JI, Boerwinkle E, Fornage M, Jun G, Yu B.
PMID: 34732054
Circ Genom Precis Med. 2021 Nov 04;CIRCGEN121003460. 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;CIRCGEN121003460doi: 10.1161/CIRCGEN.121.003460.
Yang, Y., Bartz, T. M., Brown, M. R., Guo, X., Zilhao, 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., Dorr, 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, CIRCGEN121003460. 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. (2021): CIRCGEN121003460. doi: https://doi.org/10.1161/CIRCGEN.121.003460
Yang Y, Bartz TM, Brown MR, Guo X, Zilhao NR, Trompet S, Weiss S, Yao J, Brody JA, Defilippi CR, Hoogeveen RC, Lin HJ, Gudnason V, Ballantyne CM, Dorr 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 Nov 04;CIRCGEN121003460. doi: 10.1161/CIRCGEN.121.003460. Epub 2021 Nov 04. PMID: 34732054.
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Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.

Journal of the National Cancer Institute

Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ.
PMID: 33372952
J Natl Cancer Inst. 2021 Jul 01;113(7):875-883. doi: 10.1093/jnci/djaa204.

BACKGROUND: Several cancer-susceptibility syndromes are reported to underlie pediatric rhabdomyosarcoma (RMS); however, to our knowledge there have been no systematic efforts to characterize the heterogeneous genetic etiologies of this often-fatal malignancy.METHODS: We performed exome-sequencing on germline DNA from 615...

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Li H, Sisoudiya SD, Martin-Giacalone BA, et al. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021;113(7):875-883doi: 10.1093/jnci/djaa204.
Li, H., Sisoudiya, S. D., Martin-Giacalone, B. A., Khayat, M. M., Dugan-Perez, S., Marquez-Do, D. A., Scheurer, M. E., Muzny, D., Boerwinkle, E., Gibbs, R. A., Chi, Y. Y., Barkauskas, D. A., Lo, T., Hall, D., Stewart, D. R., Schiffman, J. D., Skapek, S. X., Hawkins, D. S., Plon, S. E., Sabo, A., & Lupo, P. J. (2021). Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. Journal of the National Cancer Institute, 113(7), 875-883. https://doi.org/10.1093/jnci/djaa204
Li, He, et al. "Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group." Journal of the National Cancer Institute vol. 113,7 (2021): 875-883. doi: https://doi.org/10.1093/jnci/djaa204
Li H, Sisoudiya SD, Martin-Giacalone BA, Khayat MM, Dugan-Perez S, Marquez-Do DA, Scheurer ME, Muzny D, Boerwinkle E, Gibbs RA, Chi YY, Barkauskas DA, Lo T, Hall D, Stewart DR, Schiffman JD, Skapek SX, Hawkins DS, Plon SE, Sabo A, Lupo PJ. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 Jul 01;113(7):875-883. doi: 10.1093/jnci/djaa204. PMID: 33372952; PMCID: PMC8246828.
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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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