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Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290-300.
Clarke CM, Fok VT, Gustafson JA, Smyth MD, Timms AE, Frazar CD, Smith JD, Birgfeld CB, Lee A, Ellenbogen RG, Gruss JS, Hopper RA, Cunningham ML. Clarke CM, et al. Among authors: timms ae. Am J Med Genet A. 2018 Nov;176(11):2522. doi: 10.1002/ajmg.a.38846. Epub 2018 Sep 20. Am J Med Genet A. 2018. PMID: 30537273 No abstract available.
Spiny mice activate unique transcriptional programs after severe kidney injury regenerating organ function without fibrosis.
Okamura DM, Brewer CM, Wakenight P, Bahrami N, Bernardi K, Tran A, Olson J, Shi X, Yeh SY, Piliponsky A, Collins SJ, Nguyen ED, Timms AE, MacDonald JW, Bammler TK, Nelson BR, Millen KJ, Beier DR, Majesky MW. Okamura DM, et al. Among authors: timms ae. iScience. 2021 Nov 3;24(11):103269. doi: 10.1016/j.isci.2021.103269. eCollection 2021 Nov 19. iScience. 2021. PMID: 34849462 Free PMC article.
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Among authors: timms ae. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
67 results