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Page 1
Extending the spectrum in aortopathy: stenosis to aneurysm.
Luperchio TR, Kozel BA. Luperchio TR, et al. Among authors: kozel ba. Curr Opin Genet Dev. 2022 Oct;76:101962. doi: 10.1016/j.gde.2022.101962. Epub 2022 Jul 30. Curr Opin Genet Dev. 2022. PMID: 35917598 Review.
Response to Hamosh et al.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: kozel ba. Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006. Am J Hum Genet. 2021. PMID: 34478656 Free PMC article. No abstract available.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: kozel ba. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.
Elastin-driven genetic diseases.
Duque Lasio ML, Kozel BA. Duque Lasio ML, et al. Among authors: kozel ba. Matrix Biol. 2018 Oct;71-72:144-160. doi: 10.1016/j.matbio.2018.02.021. Epub 2018 Feb 28. Matrix Biol. 2018. PMID: 29501665 Free PMC article. Review.
Emerging mechanisms of elastin transcriptional regulation.
Procknow SS, Kozel BA. Procknow SS, et al. Among authors: kozel ba. Am J Physiol Cell Physiol. 2022 Sep 1;323(3):C666-C677. doi: 10.1152/ajpcell.00228.2022. Epub 2022 Jul 11. Am J Physiol Cell Physiol. 2022. PMID: 35816641 Free PMC article. Review.
Elastin Insufficiency Predisposes Mice to Impaired Glucose Metabolism.
DeMarsilis AJ, Walji TA, Maedeker JA, Stoka KV, Kozel BA, Mecham RP, Wagenseil JE, Craft CS. DeMarsilis AJ, et al. Among authors: kozel ba. J Mol Genet Med. 2014 Oct;8(3):129. doi: 10.4172/1747-0862.1000129. J Mol Genet Med. 2014. PMID: 26167199 Free PMC article.
Phenotypic findings associated with variation in elastin.
Justice A, Kelly MA, Bellus G, Green JD, Zaidi R, Kerrins T, Josyula N, Luperchio TR, Kozel BA, Williams MS. Justice A, et al. Among authors: kozel ba. HGG Adv. 2024 Nov 27;6(1):100388. doi: 10.1016/j.xhgg.2024.100388. Online ahead of print. HGG Adv. 2024. PMID: 39604264 Free article.
Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.
Liu D, Mervis CB, Levin MD, Biamino E, Bedeschi MF, Digilio MC, Squeo GM, Villa R, Osgood S, Freeman JA, Raja N, Merla G, Roberts AE, Morris CA, Osborne LR, Kozel BA. Liu D, et al. Among authors: kozel ba. medRxiv [Preprint]. 2024 Sep 18:2024.09.17.24313555. doi: 10.1101/2024.09.17.24313555. medRxiv. 2024. PMID: 39371121 Free PMC article. Preprint.
72 results