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Page 1
Congenital heart defects caused by FOXJ1.
Padua MB, Helm BM, Wells JR, Smith AM, Bellchambers HM, Sridhar A, Ware SM. Padua MB, et al. Among authors: ware sm. Hum Mol Genet. 2023 Jul 4;32(14):2335-2346. doi: 10.1093/hmg/ddad065. Hum Mol Genet. 2023. PMID: 37158461 Free PMC article.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. Lalani SR, et al. Among authors: ware sm. Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773997 Free PMC article.
ZIC3 in Heterotaxy.
Bellchambers HM, Ware SM. Bellchambers HM, et al. Among authors: ware sm. Adv Exp Med Biol. 2018;1046:301-327. doi: 10.1007/978-981-10-7311-3_15. Adv Exp Med Biol. 2018. PMID: 29442328 Free PMC article. Review.
Genetic architecture of laterality defects revealed by whole exome sequencing.
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW. Li AH, et al. Among authors: ware sm. Eur J Hum Genet. 2019 Apr;27(4):563-573. doi: 10.1038/s41431-018-0307-z. Epub 2019 Jan 8. Eur J Hum Genet. 2019. PMID: 30622330 Free PMC article.
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
Burkhalter MD, Sridhar A, Sampaio P, Jacinto R, Burczyk MS, Donow C, Angenendt M; Competence Network for Congenital Heart Defects Investigators; Hempel M, Walther P, Pennekamp P, Omran H, Lopes SS, Ware SM, Philipp M. Burkhalter MD, et al. Among authors: ware sm. J Clin Invest. 2019 May 16;129(7):2841-2855. doi: 10.1172/JCI98890. J Clin Invest. 2019. PMID: 31094706 Free PMC article.
141 results