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A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data.
Battle SL, Puiu D; TOPMed mtDNA Working Group; Verlouw J, Broer L, Boerwinkle E, Taylor KD, Rotter JI, Rich SS, Grove ML, Pankratz N, Fetterman JL, Liu C, Arking DE. Battle SL, et al. Among authors: liu c. NAR Genom Bioinform. 2022 May 17;4(2):lqac034. doi: 10.1093/nargab/lqac034. eCollection 2022 Jun. NAR Genom Bioinform. 2022. PMID: 35591888 Free PMC article.
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Norton N, et al. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15. Circ Cardiovasc Genet. 2013. PMID: 23418287 Free PMC article.
Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.
Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project. Auer PL, et al. JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582. JAMA Neurol. 2015. PMID: 25961151 Free PMC article.
Metabolomic Profiles, Ideal Cardiovascular Health, and Risk of Heart Failure and Atrial Fibrillation: Insights From the Framingham Heart Study.
Li Y, Gray A, Xue L, Farb MG, Ayalon N, Andersson C, Ko D, Benjamin EJ, Levy D, Vasan RS, Larson MG, Rong J, Xanthakis V, Liu C, Fetterman JL, Gopal DM. Li Y, et al. Among authors: liu c. J Am Heart Assoc. 2023 Jun 20;12(12):e028022. doi: 10.1161/JAHA.122.028022. Epub 2023 Jun 10. J Am Heart Assoc. 2023. PMID: 37301766 Free PMC article.
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Hong YS, Battle SL, Shi W, Puiu D, Pillalamarri V, Xie J, Pankratz N, Lake NJ, Lek M, Rotter JI, Rich SS, Kooperberg C, Reiner AP, Auer PL, Heard-Costa N, Liu C, Lai M, Murabito JM, Levy D, Grove ML, Alonso A, Gibbs R, Dugan-Perez S, Gondek LP, Guallar E, Arking DE. Hong YS, et al. Among authors: liu c. Nat Commun. 2023 Sep 30;14(1):6113. doi: 10.1038/s41467-023-41785-7. Nat Commun. 2023. PMID: 37777527 Free PMC article.
Association Between Whole Blood-Derived Mitochondrial DNA Copy Number, Low-Density Lipoprotein Cholesterol, and Cardiovascular Disease Risk.
Liu X, Sun X, Zhang Y, Jiang W, Lai M, Wiggins KL, Raffield LM, Bielak LF, Zhao W, Pitsillides A, Haessler J, Zheng Y, Blackwell TW, Yao J, Guo X, Qian Y, Thyagarajan B, Pankratz N, Rich SS, Taylor KD, Peyser PA, Heckbert SR, Seshadri S, Boerwinkle E, Grove ML, Larson NB, Smith JA, Vasan RS, Fitzpatrick AL, Fornage M, Ding J, Carson AP, Abecasis G, Dupuis J, Reiner A, Kooperberg C, Hou L, Psaty BM, Wilson JG, Levy D, Rotter JI, Bis JC; TOPMed mtDNA Working Group in NHLBI Trans‐Omics for Precision Medicine (TOPMed) Consortium; Satizabal CL, Arking DE, Liu C. Liu X, et al. Among authors: liu c. J Am Heart Assoc. 2023 Oct 17;12(20):e029090. doi: 10.1161/JAHA.122.029090. Epub 2023 Oct 7. J Am Heart Assoc. 2023. PMID: 37804200 Free PMC article.
Methylation patterns associated with C-reactive protein in racially and ethnically diverse populations.
Lundin JI, Peters U, Hu Y, Ammous F, Avery CL, Benjamin EJ, Bis JC, Brody JA, Carlson C, Cushman M, Gignoux C, Guo X, Haessler J, Haiman C, Joehanes R, Kasela S, Kenny E, Lapalainien T, Levy D, Liu C, Liu Y, Loos RJF, Lu A, Matise T, North KE, Park SL, Ratliff SM, Reiner A, Rich SS, Rotter JI, Smith JA, Sotoodehnia N, Tracy R, Van den Berg D, Xu H, Ye T, Zhao W, Raffield LM, Kooperberg C; PAGE Study. Lundin JI, et al. Among authors: liu y, liu c. Epigenetics. 2024 Dec;19(1):2333668. doi: 10.1080/15592294.2024.2333668. Epub 2024 Apr 3. Epigenetics. 2024. PMID: 38571307 Free PMC article.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO; Gibson RL, Bamshad MJ. Emond MJ, et al. Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344. Nat Genet. 2012. PMID: 22772370 Free PMC article.
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
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