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333 results

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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. Among authors: haghighi a. 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.
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S, Gorham J, Yang L, Schafer S, Sheng CC, Haghighi A, Homsy J, Hubner N, Church G, Cook SA, Linke WA, Chen CS, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: haghighi a. Science. 2015 Aug 28;349(6251):982-6. doi: 10.1126/science.aaa5458. Science. 2015. PMID: 26315439 Free PMC article.
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. Among authors: haghighi a. 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.
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). Haghighi A, et al. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 30131872 Free PMC article. Review.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Herkert JC, Verhagen JMA, Yotti R, Haghighi A, Phelan DG, James PA, Brown NJ, Stutterd C, Macciocca I, Leong K, Bulthuis MLC, van Bever Y, van Slegtenhorst MA, Boven LG, Roberts AE, Agarwal R, Seidman J, Lakdawala NK, Fernández-Avilés F, Burke MA, Pierpont ME, Braunlin E, Ḉağlayan AO, Barge-Schaapveld DQCM, Birnie E, van Osch-Gevers L, van Langen IM, Jongbloed JDH, Lockhart PJ, Amor DJ, Seidman CE, van de Laar IMBH. Herkert JC, et al. Among authors: haghighi a. Am Heart J. 2020 Jul;225:108-119. doi: 10.1016/j.ahj.2020.03.023. Epub 2020 Apr 21. Am Heart J. 2020. PMID: 32480058 Free article.
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. Among authors: haghighi a. 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.
Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy.
Goli R, Li J, Brandimarto J, Levine LD, Riis V, McAfee Q, DePalma S, Haghighi A, Seidman JG, Seidman CE, Jacoby D, Macones G, Judge DP, Rana S, Margulies KB, Cappola TP, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Alexis JD, Boehmer J, Kamiya C, Gustafsson F, Damm P, Ersbøll AS, Goland S, Hilfiker-Kleiner D, McNamara DM; IMAC-2 and IPAC Investigators; Arany Z. Goli R, et al. Among authors: haghighi a. Circulation. 2021 May 11;143(19):1852-1862. doi: 10.1161/CIRCULATIONAHA.120.052395. Epub 2021 Apr 20. Circulation. 2021. PMID: 33874732 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. Among authors: haghighi a. 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.
Genetic study of pediatric hypertrophic cardiomyopathy in Egypt.
Darwish RK, Haghighi A, Seliem ZS, El-Saiedi SA, Radwan NH, El-Gayar DF, Elfeel NS, Abouelhoda M, Mehaney DA. Darwish RK, et al. Among authors: haghighi a. Cardiol Young. 2020 Dec;30(12):1910-1916. doi: 10.1017/S1047951120003157. Epub 2020 Oct 5. Cardiol Young. 2020. PMID: 33012304
333 results