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Page 1
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: gustafson ja. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
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: gustafson ja. 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.
MYT1 role in the microtia-craniofacial microsomia spectrum.
Luquetti DV, Heike CL, Zarante I, Timms AE, Gustafson J, Pachajoa H, Porras-Hurtado GL, Ayala-Ramirez P, Duenas-Roque MM, Jimenez N, Ibanez LM, Hurtado-Villa P. Luquetti DV, et al. Mol Genet Genomic Med. 2020 Oct;8(10):e1401. doi: 10.1002/mgg3.1401. Epub 2020 Sep 1. Mol Genet Genomic Med. 2020. PMID: 32871052 Free PMC article.
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Calpena E, et al. Among authors: gustafson ja. J Med Genet. 2022 Feb;59(2):165-169. doi: 10.1136/jmedgenet-2020-107459. Epub 2021 Jan 12. J Med Genet. 2022. PMID: 33436522 Free PMC article.
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE. Quiat D, et al. Among authors: gustafson ja. Genet Med. 2023 Jan;25(1):143-150. doi: 10.1016/j.gim.2022.09.005. Epub 2022 Oct 19. Genet Med. 2023. PMID: 36260083 Free PMC article.
Expansion of the sagittal suture induces proliferation of skeletal stem cells and sustains endogenous calvarial bone regeneration.
Aldawood ZA, Mancinelli L, Geng X, Yeh SA, Di Carlo R, C Leite T, Gustafson J, Wilk K, Yozgatian J, Garakani S, Bassir SH, Cunningham ML, Lin CP, Intini G. Aldawood ZA, et al. Proc Natl Acad Sci U S A. 2023 Apr 18;120(16):e2120826120. doi: 10.1073/pnas.2120826120. Epub 2023 Apr 11. Proc Natl Acad Sci U S A. 2023. PMID: 37040407 Free PMC article.
From little things big things grow: enhancement of an acoustic telemetry network to monitor broad-scale movements of marine species along Australia's east coast.
Barnett A, Jaine FRA, Bierwagen SL, Lubitz N, Abrantes K, Heupel MR, Harcourt R, Huveneers C, Dwyer RG, Udyawer V, Simpfendorfer CA, Miller IB, Scott-Holland T, Kilpatrick CS, Williams SM, Smith D, Dudgeon CL, Hoey AS, Fitzpatrick R, Osborne FE, Smoothey AF, Butcher PA, Sheaves M, Fisher EE, Svaikauskas M, Ellis M, Kanno S, Cresswell BJ, Flint N, Armstrong AO, Townsend KA, Mitchell JD, Campbell M, Peddemors VM, Gustafson JA, Currey-Randall LM. Barnett A, et al. Among authors: gustafson ja. Mov Ecol. 2024 Apr 23;12(1):31. doi: 10.1186/s40462-024-00468-8. Mov Ecol. 2024. PMID: 38654348 Free PMC article.
62 results