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Page 1
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. 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.
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
Brownstein CA, Douard E, Haynes RL, Koh HY, Haghighi A, Keywan C, Martin B, Alexandrescu S, Haas EA, Vargas SO, Wojcik MH, Jacquemont S, Poduri AH, Goldstein RD, Holm IA. Brownstein CA, et al. Adv Genet (Hoboken). 2022 Nov 7;4(1):2200012. doi: 10.1002/ggn2.202200012. eCollection 2023 Mar. Adv Genet (Hoboken). 2022. PMID: 36910592 Free PMC article.
Demographic and Viral-Genetic Analyses of COVID-19 Severity in Bahrain Identify Local Risk Factors and a Protective Effect of Polymerase Mutations.
Koch EM, Du J, Dressner M, Alwasti HE, Al Taif Z, Shehab F, Mohamed AM, Ghanem A, Alhajeri A, Alawadhi A, Almoamen N, Ashoor K, Hasan S, Haghighi A, Sunyaev S, Farhat M. Koch EM, et al. medRxiv [Preprint]. 2023 Oct 12:2022.08.13.22278740. doi: 10.1101/2022.08.13.22278740. medRxiv. 2023. PMID: 36032980 Free PMC article. Preprint.
Genetic Determinants of Sudden Unexpected Death in Pediatrics.
Koh HY, Haghighi A, Keywan C, Alexandrescu S, Plews-Ogan E, Haas EA, Brownstein CA, Vargas SO, Haynes RL, Berry GT, Holm IA, Poduri AH, Goldstein RD. Koh HY, et al. Genet Med. 2022 Apr;24(4):839-850. doi: 10.1016/j.gim.2021.12.004. Epub 2022 Jan 10. Genet Med. 2022. PMID: 35027292 Free PMC article.
Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy.
Patel PN, Ito K, Willcox JAL, Haghighi A, Jang MY, Gorham JM, DePalma SR, Lam L, McDonough B, Johnson R, Lakdawala NK, Roberts A, Barton PJR, Cook SA, Fatkin D, Seidman CE, Seidman JG. Patel PN, et al. Circ Genom Precis Med. 2021 Oct;14(5):e003389. doi: 10.1161/CIRCGEN.121.003389. Epub 2021 Aug 31. Circ Genom Precis Med. 2021. PMID: 34461741 Free PMC article. Clinical Trial.
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA Jr, Lifton RP, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Ward T, et al. Circ Res. 2021 Apr 16;128(8):1156-1169. doi: 10.1161/CIRCRESAHA.120.316966. Epub 2021 Feb 9. Circ Res. 2021. PMID: 33557580 Free PMC article. Clinical Trial.
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Horvat C, Johnson R, Lam L, Munro J, Mazzarotto F, Roberts AM, Herman DS, Parfenov M, Haghighi A, McDonough B, DePalma SR, Keogh AM, Macdonald PS, Hayward CS, Roberts A, Barton PJR, Felkin LE, Giannoulatou E, Cook SA, Seidman JG, Seidman CE, Fatkin D. Horvat C, et al. Genet Med. 2019 Jan;21(1):133-143. doi: 10.1038/s41436-018-0036-2. Epub 2018 Jun 11. Genet Med. 2019. PMID: 29892087 Free PMC article.