Cox TC - Search Results

1

A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.

Sylvester B, Brindopke F, Suzuki A, Giron M, Auslander A, Maas RL, Tsai B, Gao H, Magee W 3rd, Cox TC, Sanchez-Lara PA. Sylvester B, et al. Among authors: cox tc. Genes (Basel). 2020 Aug 7;11(8):903. doi: 10.3390/genes11080903. Genes (Basel). 2020. PMID: 32784565 Free PMC article.

2

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.

3

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T. Cox LL, et al. Among authors: cox tc. Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24. Am J Hum Genet. 2018. PMID: 29805042 Free PMC article.

4

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Selvanathan A, Nixon CY, Zhu Y, Scietti L, Forneris F, Uribe LMM, Lidral AC, Jezewski PA, Mulliken JB, Murray JC, Buckley MF, Cox TC, Roscioli T. Selvanathan A, et al. Among authors: cox tc. Genes (Basel). 2020 Apr 3;11(4):391. doi: 10.3390/genes11040391. Genes (Basel). 2020. PMID: 32260281 Free PMC article.

5

A dyadic approach to the delineation of diagnostic entities in clinical genomics.

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: cox tc. Am J Hum Genet. 2021 Jan 7;108(1):8-15. doi: 10.1016/j.ajhg.2020.11.013. Am J Hum Genet. 2021. PMID: 33417889 Free PMC article. Review.

6

Response to Hamosh et al.

Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM Jr, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. Biesecker LG, et al. Among authors: cox tc. Am J Hum Genet. 2021 Sep 2;108(9):1809-1810. doi: 10.1016/j.ajhg.2021.07.006. Am J Hum Genet. 2021. PMID: 34478656 Free PMC article. No abstract available.

7

Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.

Kantaputra P, Daroontum T, Chuamanochan M, Chaowattanapanit S, Intachai W, Olsen B, Sastraruji T, Tongsima S, Ngamphiw C, Kampuansai J, Cox TC, Kiratikanon S. Kantaputra P, et al. Among authors: cox tc. Genes (Basel). 2022 Dec 29;14(1):103. doi: 10.3390/genes14010103. Genes (Basel). 2022. PMID: 36672844 Free PMC article.

8

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII.

Kantaputra PN, Angkurawaranon S, Intachai W, Ngamphiw C, Olsen B, Tongsima S, Cox TC, Ketudat Cairns JR. Kantaputra PN, et al. Among authors: cox tc. Genes (Basel). 2023 Jan 26;14(2):322. doi: 10.3390/genes14020322. Genes (Basel). 2023. PMID: 36833249 Free PMC article.

9

Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.

Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL. Wolf ZT, et al. Among authors: cox tc. PLoS Genet. 2015 Mar 23;11(3):e1005059. doi: 10.1371/journal.pgen.1005059. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25798845 Free PMC article.

10

Full Spectrum of Postnatal Tooth Phenotypes in a Novel Irf6 Cleft Lip Model.

Chu EY, Tamasas B, Fong H, Foster BL, LaCourse MR, Tran AB, Martin JF, Schutte BC, Somerman MJ, Cox TC. Chu EY, et al. Among authors: cox tc. J Dent Res. 2016 Oct;95(11):1265-73. doi: 10.1177/0022034516656787. Epub 2016 Jul 1. J Dent Res. 2016. PMID: 27369589 Free PMC article.

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