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Page 1
Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.
Bersell K, Montgomery JA, Kanagasundram AN, Campbell CM, Chung WK, Macaya D, Konecki D, Venter E, Shoemaker MB, Roden DM. Bersell K, et al. Among authors: chung wk. Circ Arrhythm Electrophysiol. 2016 Jun;9(6):e004081. doi: 10.1161/CIRCEP.116.004081. Circ Arrhythm Electrophysiol. 2016. PMID: 27286732 Free PMC article. No abstract available.
A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.
Safarova MS, Satterfield BA, Fan X, Austin EE, Ye Z, Bastarache L, Zheng N, Ritchie MD, Borthwick KM, Williams MS, Larson EB, Scrol A, Jarvik GP, Crosslin DR, Leppig K, Rasmussen-Torvik LJ, Pendergrass SA, Sturm AC, Namjou B, Shah AS, Carroll RJ, Chung WK, Wei WQ, Feng Q, Stein CM, Roden DM, Manolio TA, Schaid DJ, Denny JC, Hebbring SJ, de Andrade M, Kullo IJ. Safarova MS, et al. Among authors: chung wk. NPJ Genom Med. 2019 Feb 11;4:3. doi: 10.1038/s41525-019-0078-7. eCollection 2019. NPJ Genom Med. 2019. PMID: 30774981 Free PMC article.
The polygenic architecture of left ventricular mass mirrors the clinical epidemiology.
Mosley JD, Levinson RT, Farber-Eger E, Edwards TL, Hellwege JN, Hung AM, Giri A, Shuey MM, Shaffer CM, Shi M, Brittain EL, Chung WK, Kullo IJ, Arruda-Olson AM, Jarvik GP, Larson EB, Crosslin DR, Williams MS, Borthwick KM, Hakonarson H, Denny JC, Wang TJ, Stein CM, Roden DM, Wells QS. Mosley JD, et al. Among authors: chung wk. Sci Rep. 2020 May 5;10(1):7561. doi: 10.1038/s41598-020-64525-z. Sci Rep. 2020. PMID: 32372017 Free PMC article.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. Hawley MH, et al. Among authors: chung wk. Hum Mutat. 2020 Sep;41(9):1577-1587. doi: 10.1002/humu.24061. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32516855 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Among authors: chung wk. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM, Davogustto G, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger EH, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland HT, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J; eMERGE Network; Denny J, Wei WQ, George AL Jr, Shoemaker MB, Roden DM. Glazer AM, et al. Among authors: chung wk. Circulation. 2022 Mar 22;145(12):877-891. doi: 10.1161/CIRCULATIONAHA.121.055562. Epub 2021 Dec 21. Circulation. 2022. PMID: 34930020 Free PMC article.
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Leppig KA, Kulchak Rahm A, Appelbaum P, Aufox S, Bland HT, Buchanan A, Christensen KD, Chung WK, Clayton EW, Crosslin D, Denny J, DeVange S, Gordon A, Green RC, Hakonarson H, Harr MH, Henrikson N, Hoell C, Holm IA, Kullo IJ, Jarvik GP, Lammers PE, Larson EB, Lindor NM, Marasa M, Myers MF, Perez E, Peterson JF, Pratap S, Prows CA, Ralston JD, Rasouly HM, Roden DM, Sharp RR, Singh R, Shaibi G, Smith ME, Sturm A, Thiese HA, Van Driest SL, Williams J, Williams MS, Wynn J, Blout Zawatsky CL, Wiesner GL. Leppig KA, et al. Among authors: chung wk. Genet Med. 2022 May;24(5):1130-1138. doi: 10.1016/j.gim.2022.01.015. Epub 2022 Feb 23. Genet Med. 2022. PMID: 35216901 Free PMC article.
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
Zeng C, Bastarache LA, Tao R, Venner E, Hebbring S, Andujar JD, Bland ST, Crosslin DR, Pratap S, Cooley A, Pacheco JA, Christensen KD, Perez E, Zawatsky CLB, Witkowski L, Zouk H, Weng C, Leppig KA, Sleiman PMA, Hakonarson H, Williams MS, Luo Y, Jarvik GP, Green RC, Chung WK, Gharavi AG, Lennon NJ, Rehm HL, Gibbs RA, Peterson JF, Roden DM, Wiesner GL, Denny JC. Zeng C, et al. Among authors: chung wk. JAMA Oncol. 2022 Jun 1;8(6):835-844. doi: 10.1001/jamaoncol.2022.0373. JAMA Oncol. 2022. PMID: 35446370 Free PMC article.
Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results.
Dikilitas O, Sherafati A, Saadatagah S, Satterfield BA, Kochan DC, Anderson KC, Chung WK, Hebbring SJ, Salvati ZM, Sharp RR, Sturm AC, Gibbs RA, Rowley R, Venner E, Linder JE, Jones LK, Perez EF, Peterson JF, Jarvik GP, Rehm HL, Zouk H, Roden DM, Williams MS, Manolio TA, Kullo IJ. Dikilitas O, et al. Among authors: chung wk. Circ Genom Precis Med. 2023 Apr;16(2):e003816. doi: 10.1161/CIRCGEN.122.003816. Epub 2023 Feb 22. Circ Genom Precis Med. 2023. PMID: 37071725 Free PMC article.
1,028 results