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188 results

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Human hepatic organoids for the analysis of human genetic diseases.
Guan Y, Xu D, Garfin PM, Ehmer U, Hurwitz M, Enns G, Michie S, Wu M, Zheng M, Nishimura T, Sage J, Peltz G. Guan Y, et al. Among authors: enns g. JCI Insight. 2017 Sep 7;2(17):e94954. doi: 10.1172/jci.insight.94954. eCollection 2017 Sep 7. JCI Insight. 2017. PMID: 28878125 Free PMC article.
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia.
Manoli I, Sysol JR, Epping MW, Li L, Wang C, Sloan JL, Pass A, Gagné J, Ktena YP, Li L, Trivedi NS, Ouattara B, Zerfas PM, Hoffmann V, Abu-Asab M, Tsokos MG, Kleiner DE, Garone C, Cusmano-Ozog K, Enns GM, Vernon HJ, Andersson HC, Grunewald S, Elkahloun AG, Girard CL, Schnermann J, DiMauro S, Andres-Mateos E, Vandenberghe LH, Chandler RJ, Venditti CP. Manoli I, et al. Among authors: enns gm. JCI Insight. 2018 Dec 6;3(23):e124351. doi: 10.1172/jci.insight.124351. JCI Insight. 2018. PMID: 30518688 Free PMC article.
Prenatal treatment of ornithine transcarbamylase deficiency.
Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W, Cowan TM, Cox KL, Lyell DJ, Esquivel CO, Homeyer M, Hudgins L, Hurwitz M, Palma JP, Schelley S, Akula VP, Summar ML, Enns GM. Wilnai Y, et al. Mol Genet Metab. 2018 Mar;123(3):297-300. doi: 10.1016/j.ymgme.2018.01.004. Epub 2018 Jan 16. Mol Genet Metab. 2018. PMID: 29396029
Reply: To PMID 25771389.
Niemi AK, Enns GM. Niemi AK, et al. J Pediatr. 2015 Nov;167(5):1173-4. doi: 10.1016/j.jpeds.2015.08.031. Epub 2015 Sep 9. J Pediatr. 2015. PMID: 26362093 No abstract available.
Clinical whole-exome sequencing: are we there yet?
Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L. Atwal PS, et al. Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525916 Free article.
Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.
Zaghlula M, Glaze DG, Enns GM, Potocki L, Schwabe AL, Suter B. Zaghlula M, et al. Among authors: enns gm. Am J Med Genet A. 2018 Jul;176(7):1683-1687. doi: 10.1002/ajmg.a.38689. Epub 2018 May 19. Am J Med Genet A. 2018. PMID: 29777588 Review. No abstract available.
188 results