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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
Landstrom AP, Kim JJ, Gelb BD, Helm BM, Kannankeril PJ, Semsarian C, Sturm AC, Tristani-Firouzi M, Ware SM; American Heart Association Council on Genomic and Precision Medicine; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Arteriosclerosis, Thrombosis and Vascular Biology; and Council on Lifestyle and Cardiometabolic Health. Landstrom AP, et al. Circ Genom Precis Med. 2021 Oct;14(5):e000086. doi: 10.1161/HCG.0000000000000086. Epub 2021 Aug 20. Circ Genom Precis Med. 2021. PMID: 34412507 Free PMC article.
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease.
Miller TA, Hernandez EJ, Gaynor JW, Russell MW, Newburger JW, Chung W, Goldmuntz E, Cnota JF, Zyblewski SC, Mahle WT, Zak V, Ravishankar C, Kaltman JR, McCrindle BW, Clarke S, Votava-Smith JK, Graham EM, Seed M, Rudd N, Bernstein D, Lee TM, Yandell M, Tristani-Firouzi M. Miller TA, et al. Among authors: tristani firouzi m. Commun Med (Lond). 2023 Sep 27;3(1):127. doi: 10.1038/s43856-023-00361-2. Commun Med (Lond). 2023. PMID: 37758840 Free PMC article.
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. Watkins WS, et al. Nat Commun. 2019 Oct 17;10(1):4722. doi: 10.1038/s41467-019-12582-y. Nat Commun. 2019. PMID: 31624253 Free PMC article.
De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease.
Boskovski MT, Homsy J, Nathan M, Sleeper LA, Morton S, Manheimer KB, Tai A, Gorham J, Lewis M, Swartz M, Alfieris GM, Bacha EA, Karimi M, Meyer D, Nguyen K, Bernstein D, Romano-Adesman A, Porter GA Jr, Goldmuntz E, Chung WK, Srivastava D, Kaltman JR, Tristani-Firouzi M, Lifton R, Roberts AE, Gaynor JW, Gelb BD, Kim R, Seidman JG, Brueckner M, Mayer JE Jr, Newburger JW, Seidman CE. Boskovski MT, et al. Circ Genom Precis Med. 2020 Aug;13(4):e002836. doi: 10.1161/CIRCGEN.119.002836. Epub 2020 Jun 30. Circ Genom Precis Med. 2020. PMID: 32812804 Free PMC article.
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.
Morton SU, Shimamura A, Newburger PE, Opotowsky AR, Quiat D, Pereira AC, Jin SC, Gurvitz M, Brueckner M, Chung WK, Shen Y, Bernstein D, Gelb BD, Giardini A, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Srivastava D, Tristani-Firouzi M, Newburger JW, Seidman JG, Seidman CE. Morton SU, et al. JAMA Cardiol. 2021 Apr 1;6(4):457-462. doi: 10.1001/jamacardio.2020.4947. JAMA Cardiol. 2021. PMID: 33084842 Free PMC article.
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.
Morton SU, Pereira AC, Quiat D, Richter F, Kitaygorodsky A, Hagen J, Bernstein D, Brueckner M, Goldmuntz E, Kim RW, Lifton RP, Porter GA Jr, Tristani-Firouzi M, Chung WK, Roberts A, Gelb BD, Shen Y, Newburger JW, Seidman JG, Seidman CE. Morton SU, et al. Circ Genom Precis Med. 2022 Apr;15(2):e003500. doi: 10.1161/CIRCGEN.121.003500. Epub 2022 Feb 7. Circ Genom Precis Med. 2022. PMID: 35130025 Free PMC article.
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
Yu M, Aguirre M, Jia M, Gjoni K, Cordova-Palomera A, Munger C, Amgalan D, Rosa Ma X, Pereira A, Tcheandjieu C, Seidman C, Seidman J, Tristani-Firouzi M, Chung W, Goldmuntz E, Srivastava D, Loos RJF, Chami N, Cordell H, Dreßen M, Mueller-Myhsok B, Lahm H, Krane M, Pollard KS, Engreitz JM, Gagliano Taliun SA, Gelb BD, Priest JR. Yu M, et al. Circ Genom Precis Med. 2023 Jun;16(3):258-266. doi: 10.1161/CIRCGEN.122.003968. Epub 2023 Apr 7. Circ Genom Precis Med. 2023. PMID: 37026454 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. 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.
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M. Jin SC, et al. Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9. Nat Genet. 2017. PMID: 28991257 Free PMC article.
123 results