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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Justice CM, Cuellar A, Bala K, Sabourin JA, Cunningham ML, Crawford K, Phipps JM, Zhou Y, Cilliers D, Byren JC, Johnson D, Wall SA, Morton JEV, Noons P, Sweeney E, Weber A, Rees KEM, Wilson LC, Simeonov E, Kaneva R, Yaneva N, Georgiev K, Bussarsky A, Senders C, Zwienenberg M, Boggan J, Roscioli T, Tamburrini G, Barba M, Conway K, Sheffield VC, Brody L, Mills JL, Kay D, Sicko RJ, Langlois PH, Tittle RK, Botto LD, Jenkins MM, LaSalle JM, Lattanzi W, Wilkie AOM, Wilson AF, Romitti PA, Boyadjiev SA; National Birth Defects Prevention Study. Justice CM, et al. Among authors: zhou y. Hum Genet. 2020 Aug;139(8):1077-1090. doi: 10.1007/s00439-020-02157-z. Epub 2020 Apr 7. Hum Genet. 2020. PMID: 32266521 Free PMC article.
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. Twigg SRF, et al. Among authors: zhou y. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236920 Free PMC article.
The developing mouse coronal suture at single-cell resolution.
Farmer DT, Mlcochova H, Zhou Y, Koelling N, Wang G, Ashley N, Bugacov H, Chen HJ, Parvez R, Tseng KC, Merrill AE, Maxson RE Jr, Wilkie AOM, Crump JG, Twigg SRF. Farmer DT, et al. Among authors: zhou y. Nat Commun. 2021 Aug 10;12(1):4797. doi: 10.1038/s41467-021-24917-9. Nat Commun. 2021. PMID: 34376651 Free PMC article.
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
Romanelli Tavares VL, Guimarães-Ramos SL, Zhou Y, Masotti C, Ezquina S, Moreira DP, Buermans H, Freitas RS, Den Dunnen JT, Twigg SRF, Passos-Bueno MR. Romanelli Tavares VL, et al. Among authors: zhou y. J Med Genet. 2022 Sep;59(9):895-905. doi: 10.1136/jmedgenet-2021-107825. Epub 2021 Nov 8. J Med Genet. 2022. PMID: 34750192 Free PMC article.
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