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The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D. Van De Weghe JC, et al. Among authors: gomez a. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2. Annu Rev Genomics Hum Genet. 2022. PMID: 35655331 Free PMC article. Review.
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H; University of Washington Center for Mendelian Genomics; Bamshad MJ; Genomics England Research Consortium; Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D. Latour BL, et al. Among authors: gomez a. J Clin Invest. 2020 Aug 3;130(8):4423-4439. doi: 10.1172/JCI131656. J Clin Invest. 2020. PMID: 32453716 Free PMC article.
wnt16 regulates spine and muscle morphogenesis through parallel signals from notochord and dermomyotome.
Watson CJ, Tang WJ, Rojas MF, Fiedler IAK, Morfin Montes de Oca E, Cronrath AR, Callies LK, Swearer AA, Ahmed AR, Sethuraman V, Addish S, Farr GH 3rd, Gómez AE, Rai J, Monstad-Rios AT, Gardiner EM, Karasik D, Maves L, Busse B, Hsu YH, Kwon RY. Watson CJ, et al. Among authors: gomez ae. PLoS Genet. 2022 Nov 8;18(11):e1010496. doi: 10.1371/journal.pgen.1010496. eCollection 2022 Nov. PLoS Genet. 2022. PMID: 36346812 Free PMC article.