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Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.
Bolkier Y, Barel O, Marek-Yagel D, Atias-Varon D, Kagan M, Vardi A, Mishali D, Katz U, Salem Y, Tirosh-Wagner T, Jacobson JM, Raas-Rothschild A, Chorin O, Eliyahu A, Sarouf Y, Shlomovitz O, Veber A, Shalva N, Javasky E, Ben Moshe Y, Staretz-Chacham O, Rechavi G, Mane S, Anikster Y, Vivante A, Pode-Shakked B. Bolkier Y, et al. Among authors: vardi a. J Med Genet. 2022 Jul;59(7):691-696. doi: 10.1136/jmedgenet-2021-107775. Epub 2021 Jul 2. J Med Genet. 2022. PMID: 34215651
A founder truncating variant in GDF1 causes autosomal-recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
Marek-Yagel D, Bolkier Y, Barel O, Vardi A, Mishali D, Katz U, Salem Y, Abudi S, Nayshool O, Kol N, Raas-Rothschild A, Rechavi G, Anikster Y, Pode-Shakked B. Marek-Yagel D, et al. Among authors: vardi a. Am J Med Genet A. 2020 May;182(5):987-993. doi: 10.1002/ajmg.a.61509. Epub 2020 Mar 7. Am J Med Genet A. 2020. PMID: 32144877
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Iuso A, Wiersma M, Schüller HJ, Pode-Shakked B, Marek-Yagel D, Grigat M, Schwarzmayr T, Berutti R, Alhaddad B, Kanon B, Grzeschik NA, Okun JG, Perles Z, Salem Y, Barel O, Vardi A, Rubinshtein M, Tirosh T, Dubnov-Raz G, Messias AC, Terrile C, Barshack I, Volkov A, Avivi C, Eyal E, Mastantuono E, Kumbar M, Abudi S, Braunisch M, Strom TM, Meitinger T, Hoffmann GF, Prokisch H, Haack TB, Brundel BJJM, Haas D, Sibon OCM, Anikster Y. Iuso A, et al. Among authors: vardi a. Am J Hum Genet. 2018 Jun 7;102(6):1018-1030. doi: 10.1016/j.ajhg.2018.03.022. Epub 2018 May 10. Am J Hum Genet. 2018. PMID: 29754768 Free PMC article.
Blood lactate levels differ significantly between surviving and nonsurviving patients within the same risk-adjusted Classification for Congenital Heart Surgery (RACHS-1) group after pediatric cardiac surgery.
Molina Hazan V, Gonen Y, Vardi A, Keidan I, Mishali D, Rubinshtein M, Yakov Y, Paret G. Molina Hazan V, et al. Among authors: vardi a. Pediatr Cardiol. 2010 Oct;31(7):952-60. doi: 10.1007/s00246-010-9724-7. Epub 2010 May 22. Pediatr Cardiol. 2010. PMID: 20495912
269 results