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2008 1
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2019 2
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15 results

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Page 1
Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.
Toepfer CN, Wakimoto H, Garfinkel AC, McDonough B, Liao D, Jiang J, Tai AC, Gorham JM, Lunde IG, Lun M, Lynch TL 4th, McNamara JW, Sadayappan S, Redwood CS, Watkins HC, Seidman JG, Seidman CE. Toepfer CN, et al. Among authors: tai ac. Sci Transl Med. 2019 Jan 23;11(476):eaat1199. doi: 10.1126/scitranslmed.aat1199. Sci Transl Med. 2019. PMID: 30674652 Free PMC article.
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Jang MY, et al. Among authors: tai ac. Circ Genom Precis Med. 2023 Jun;16(3):224-231. doi: 10.1161/CIRCGEN.122.003924. Epub 2023 May 11. Circ Genom Precis Med. 2023. PMID: 37165897 Free PMC article.
Pathogenesis of Cardiomyopathy Caused by Variants in ALPK3, an Essential Pseudokinase in the Cardiomyocyte Nucleus and Sarcomere.
Agarwal R, Wakimoto H, Paulo JA, Zhang Q, Reichart D, Toepfer C, Sharma A, Tai AC, Lun M, Gorham J, DePalma SR, Gygi SP, Seidman JG, Seidman CE. Agarwal R, et al. Among authors: tai ac. Circulation. 2022 Nov 29;146(22):1674-1693. doi: 10.1161/CIRCULATIONAHA.122.059688. Epub 2022 Nov 2. Circulation. 2022. PMID: 36321451 Free PMC article.
Elevated plasma sclerostin is associated with high brain amyloid-β load in cognitively normal older adults.
Yuan J, Pedrini S, Thota R, Doecke J, Chatterjee P, Sohrabi HR, Teunissen CE, Verberk IMW, Stoops E, Vanderstichele H, Meloni BP, Mitchell C, Rainey-Smith S, Goozee K, Tai ACP, Ashton N, Zetterberg H, Blennow K, Gao J, Liu D, Mastaglia F, Inderjeeth C, Zheng M, Martins RN. Yuan J, et al. Among authors: tai acp. NPJ Aging. 2023 Sep 4;9(1):17. doi: 10.1038/s41514-023-00114-4. NPJ Aging. 2023. PMID: 37666862 Free PMC article.
Association between Multiple Myeloma and Ulcerative Colitis: A Cross-Sectional Analysis.
Bangolo A, Sagireddy S, Desrochers P, Laabidi I, Nagesh VK, Jarri A, Sekhon I, Laabidi Y, Muralidhar D, Singh A, Sanjeeva PRP, Sandhu DS, Salma S, Khan SA, Ali MI, Kim SH, Bajwa W, Tai AC, Itani A, Ahmed K, Ozmen M, Hirpara B, Borse SM, Weissman S. Bangolo A, et al. Among authors: tai ac. Diseases. 2023 Apr 6;11(2):59. doi: 10.3390/diseases11020059. Diseases. 2023. PMID: 37092441 Free PMC article.
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk.
Willcox JAL, Geiger JT, Morton SU, McKean D, Quiat D, Gorham JM, Tai AC, DePalma S, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb B, Porter GA Jr, Seidman JG, Seidman CE. Willcox JAL, et al. Among authors: tai ac. Am J Hum Genet. 2022 May 5;109(5):961-966. doi: 10.1016/j.ajhg.2022.03.011. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397206 Free PMC article.
Robust identification of mosaic variants in congenital heart disease.
Manheimer KB, Richter F, Edelmann LJ, D'Souza SL, Shi L, Shen Y, Homsy J, Boskovski MT, Tai AC, Gorham J, Yasso C, Goldmuntz E, Brueckner M, Lifton RP, Chung WK, Seidman CE, Seidman JG, Gelb BD. Manheimer KB, et al. Among authors: tai ac. Hum Genet. 2018 Feb;137(2):183-193. doi: 10.1007/s00439-018-1871-6. Epub 2018 Feb 7. Hum Genet. 2018. PMID: 29417219 Free PMC article.
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
Hsieh A, Morton SU, Willcox JAL, Gorham JM, Tai AC, Qi H, DePalma S, McKean D, Griffin E, Manheimer KB, Bernstein D, Kim RW, Newburger JW, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Brueckner M, Lifton RP, Goldmuntz E, Gelb BD, Chung WK, Seidman CE, Seidman JG, Shen Y. Hsieh A, et al. Among authors: tai ac. Genome Med. 2020 Apr 29;12(1):42. doi: 10.1186/s13073-020-00738-1. Genome Med. 2020. PMID: 32349777 Free PMC article.
15 results