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Page 1
Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.
Rao S, Watt KEN, Maili L, Lamb M, Farrow E, Hassan H, Weaver K, Miller B, Dash S, Cox LL, Gallacher L, Kant SG, Gibson M, Pastinen T, Li D, Bhoj EJK, Zhu H, Zhang J, Zhang YB, Tan TY, Trainor PA, Cox TC. Rao S, et al. Among authors: cox ll. J Dent Res. 2025 Apr 24:220345251325818. doi: 10.1177/00220345251325818. Online ahead of print. J Dent Res. 2025. PMID: 40275713
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia.
Zhu H, Zhang J, Rao S, Durbin MD, Li Y, Lang R, Liu J, Xiao B, Shan H, Meng Z, Wang J, Tang X, Shi Z, Cox LL, Zhao S, Ware SM, Tan TY, de Silva M, Gallacher L, Liu T, Mi J, Zeng C, Zheng HF, Zhang Q, Antonarakis SE, Cox TC, Zhang YB. Zhu H, et al. Among authors: cox ll. Genome Res. 2025 May 2;35(5):1065-1079. doi: 10.1101/gr.280047.124. Genome Res. 2025. PMID: 40234029
Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.
Parada-Sanchez MT, Chu EY, Cox LL, Undurty SS, Standley JM, Murray JC, Cox TC. Parada-Sanchez MT, et al. Among authors: cox tc, cox ll. J Dent Res. 2017 Oct;96(11):1330-1338. doi: 10.1177/0022034517723615. Epub 2017 Aug 2. J Dent Res. 2017. PMID: 28767310 Free PMC article.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Li D, March ME, Fortugno P, Cox LL, Matsuoka LS, Monetta R, Seiler C, Pyle LC, Bedoukian EC, Sánchez-Soler MJ, Caluseriu O, Grand K, Tam A, Aycinena ARP, Camerota L, Guo Y, Sleiman P, Callewaert B, Kumps C, Dheedene A, Buckley M, Kirk EP, Turner A, Kamien B, Patel C, Wilson M, Roscioli T, Christodoulou J, Cox TC, Zackai EH, Brancati F, Hakonarson H, Bhoj EJ. Li D, et al. Among authors: cox ll. Hum Genet. 2021 Jul;140(7):1061-1076. doi: 10.1007/s00439-021-02274-3. Epub 2021 Apr 3. Hum Genet. 2021. PMID: 33811546 Free PMC article.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: cox ll. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Microtomographic analysis of lower urinary tract obstruction.
Siebert JR, Smith KJ, Cox LL, Glass IA, Cox TC. Siebert JR, et al. Among authors: cox tc, cox ll. Pediatr Dev Pathol. 2013 Nov-Dec;16(6):405-14. doi: 10.2350/13-08-1359-OA.1. Epub 2013 Aug 26. Pediatr Dev Pathol. 2013. PMID: 23977847 Free PMC article.
24 results