Profile of Timothy C. Cox, Ph.D.

Timothy C. Cox, Ph.D.

Professor, Department of Oral and Craniofacial Sciences / Curators’ Distinguished Professor / Endowed Professor in Dental and Musculoskeletal Tissue Research
School of Dentistry

Biography

Dr. Cox earned his BSc (majors: Biochemistry & Immunology) (’89), BSc [Honors] in Biochemistry (’90) and PhD in Molecular Genetics (’94) from the University of Adelaide, Australia. Following his PhD, Dr Cox had a brief stint in an Australian biotechnology company using ES cell technologies to address the challenges associated with organ rejection following xenotransplantation. He was then awarded consecutive prestigious Australian National Health & Medical Research Fellowships to undertake postdoctoral training overseas in the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (Texas), the Telethon Institute of Genetics in Medicine (TIGEM) in Milan (Italy), and then at the University of Queensland (Australia). He then returned to his alma mater, the University of Adelaide, to head his own research group, where he formed strong research ties with The Australian Craniofacial Unit (an International Centre of Excellence for the management of craniofacial deformity). After 8 years, he accepted a tenured position at Monash University and became the co-director of MouseWorks, a highly regarded mouse genetic modification facility. In 2006, Dr Cox was recruited to the University of Washington/Seattle Children’s Research Institute in Seattle, where he rose to full professor in pediatrics and the inaugural holder of the Laurel Endowed Chair in Pediatric Craniofacial Research. Dr Cox joined the UMKC School of Dentistry faculty in 2018 as the Endowed Chair in Mineralized Tissue Research in the Department of Oral and Craniofacial Sciences and in 2019 he received a joint appointment in the School of Medicine’s Department of Pediatrics. He has published over 150 papers, and his lab has received continuous federal funding since its inception.  In 2025 Dr. Cox was named a Curators’ Distinguished Professor by the University of Missouri Board of Curators. The honor recognizes an exemplary record of research, teaching, and service, and outstanding contributions to the University of Missouri–Kansas City and the UM System.

Research:
Dr Cox’s research focuses on the genetic and maternal dietary factors that contribute to normal craniofacial development and influence the susceptibility to, and presentation of, common craniofacial conditions, such as cleft lip/palate and craniofacial microsomia. Dr Cox’s research uses an array of molecular, genetic, and cell biology tools in conjunction with mouse and chick model systems. His team has particular expertise in quantitative high-resolution 3D tomographic imaging to qualitatively and quantitatively assess the impact of genetic mutations and maternal diet on early facial morphogenesis and its postnatal consequences. Part of his lab is also focused on providing new insight into the genetic basis of the aforementioned human conditions by employing the latest genomic sequencing tools on relevant patient cohorts in partnership with local, national, and international collaborators.

Dr Cox’s research has been a strong training ground for researchers interested in translational sciences. He has mentored and trained over 40 undergraduate students and 30 postgraduates, with many of the postgraduates receiving NIH fellowship support and various local, national, and international awards, including the IADR International Hatton Award. Multiple trainees have also gone on to hold senior research positions and/or their own labs around the world.

Recent awards:
2025 - David W. Bixler Distinguished Scientist Award, Society for Craniofacial Genetics & Developmental Biology
2024 - N.T Veatch Award for Distinguished Research & Creativity, University of Missouri-Kansas City
2023 - Star Researcher Award (Health Sciences), University of Missouri-Kansas City

Current lab members:
Liza Cox, Senior Research Associate
Ryan Anderson, Research Associate
Amen Teshome, PhD student
Jessica Brewer, PhD student
Talia Thambyrajah, 3rd yr DDS student
Elise Baumann, 3rd yr DDS student
Artemis Nowrouzi, Senior Honors student

Selected recent publications:

Cleft lip/palate-related:

Cox, L.L., Cox, T.C.*, Moreno-Uribe, L.M., Zhu, Y., Richter, C.T., Nidey, N., Standley, J.M., Deng, M., Blue, E., Chong, J., Yang, Y., Carstens, R.P., Anand, D., Lachke, S.A., Smith, J.D., Dorschner, M.O., Bedell, B., Kirk, E., Hing, A.V., Venselaar, H., Ramirez, L.C.V., Bamshad, M.J., Glass, I.A., Cooper, J.A., Haan, E., Nickerson, D.A., van Bokhoven, H., Zhou, H., Krahn, K., Buckley, M.F., Murray, J.C., Lidral, A.C. & Roscioli, T*. (2018) Mutations in the epithelial cadherin-p120-catenin complex cause Mendelian non-syndromic cleft lip with or without cleft palate. American Journal of Human Genetics 102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. *authors contributed equally. PMID: 29805042.

Cox, T.C.,* Lidral, A.,* McCoy, J.C., Liu, H., Cox, L.L., Zhu, Y., Anderson, R.D., Moreno-Uribe, L.M., Anand, D., Deng, M., Richter, C.T., Nidey, N.L., Standley, J.M., Blue, E.E., Chong, J.X., Smith, J.D., Kirk, E.P., Venselaar, H., Krahn, K.N., van Bokhoven, H., Zhou, H., Cornell, R.A., Glass, I.A., Bamshad, M.J., Nickerson, D.A., Murray, J.C., Lachke, S.A., Thompson, T.B., Buckley, M.F. & Roscioli, T. (2019) Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Human Mutation. 40(10):1813-1825. *authors contributed equally. doi: 10.1002/humu.23793. PMID: 31215115.

Strong, A., Rao, S., von Hardenberg, S., Li, D., Cox, L.L., Lee, P., Zhang, L.Q., Awotoye, W., Diamond, T., Gold, J., Gooch, C., Gowans, L.J.J., Hakonarson, H., Hing, A., Loomes, K., Martin, N., Selvanayagam, T., Marazita, M.L., Mononen, T., Piccoli, D., Pfundt, R., Raskin, D., Ritter, A., Scherer, S.W., Sobriera, N., Vaccaro, C., Wang, X., Watson, D., Weksberg, R., Bhoj, E., Murray, J.C., Lidral, A.C., Butali, A., Buckley, M.F., Roscioli, T., Koolen, D.A., Seaver, L.H., Prows, C.A., Stottmann, R., & Cox, T.C. (2023) A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies and tall stature. American Journal of Medical Genetics – part A  191(5):1227-1239. doi: 10.1002/ajmg.a.63130. PMID: 36751037.

Craniofacial microsomia-related:

Mao, K., Borel, C., Ansar, M., Jolly, A., Makrythanasis, P., Fröhlich, C., Iwaszkiewicz, J., Wang, B., Xu , X., Li, Q., Blanc, X., Zhu, H., Chen, Q., Jin, F., Ankamreddy, H., Singh, S., Zhang, H., Wang, X., Chen, P., Ranza, E., Paracha, S.A., Shah, S.F., Guida, V., Piceci-Sparascio, F., Melis, D., Dallapiccola, B., Digilio, M.C., Novelli, A., Magliozzi, M., Fadda, M.T., Streff, H., Machol, K., Lewis, R.A., Zoete, V., Squeo, G.M., Prontera, P., Mancano, G., Gori, G., Mariani, M., Selicorni, A., Psoni, S., Fryssira, H., Douzgou, S., Marlin, S., Biskup, S., DeLuca, A., Merla, G., Zhao, S., Cox, T.C., Groves, A.K., Lupski, J.R., Zhang, Q., Zhang, Y-B., & Antonarakis, S.E. (2023) FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nature Communications 14:2026. doi: 10.1038/s41467-023-37703-6. PMID: 37041148.

Rao, S.*, Watt, K.*, Maili, L.*, Lamb, M., Farrow, E., Hassan, H., Weaver, K., Miller, B., Dash, S., Cox, L.L., Gallacher, L., Kant, S.G., Gibson, M., Pastinen, T., Li, D., Bhoj, E.J.K., Zhu, H., Zhang, J., Zhang, Y-B., Tan, T.Y., Trainor, P.A. & Cox, T.C. (2025) Splicing defects and cell death cause SF3B2-linked craniofacial microsomia. Journal of Dental Research 104:1116-1126. doi: 10.1177/00220345251325818 *authors contributed equally. PMID: 40275713.

Zhu, H., Zhang, J., Rao, S., Durbin, M.D., Li, Y., Lang, R., Liu, J., Xiao, B., Shan, H., Meng, Z., Wang, J., Tang, X., Shi, Z., Cox, L.L., Zhao, S., Ware, S.M., Tan, T.Y., de Silva, M., Gallacher, L., Liu, T., Mi, J., Zeng, C., Zheng, H-F., Zhang, Q., Antonarakis, S.E.*, Cox, T.C.*, Zhang, Y-B.* (2025) Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia. Genome Research 35:1065-1079. doi: 10.1101/gr.280047.124 *authors contributed equally. PMID: 40234029.

Xu, X.*, Chen, Q.*, Huang, Q.*, Cox, T.C.*, Zhu, H., Hu, J., Han, X., Meng, Z., Wang, B., Liao, Z., Xu, W., Xiao, B., Lang, R., Liu, J., Li, Q., Zhang, Q., Antonarakis, S.E., Zhang, J., Fan, X., Liu, H., Liu, T., Huang, J., Tang, X., Wang, J. & Zhang, Y-B. (2025) Auricular malformations driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis. Nature Communications 16:4598. doi: 10.1038/s41467-025-59735-w *authors contributed equally. PMID: 40382324.

Other craniofacial/dental topics:

Waugh, K.A., Minter, R., Baxter, J., Chi, C., Galbraith, M.D., Tuttle, K.D., Eduthan, N.P., Kinning, K.T., Andrysik, Z., Araya, P., Dougherty, H., Dunn, L.N., Ludwig, M., Schade, K.A., Tracy, D., Smith, K.P., Granrath, R.E., Busquet, N., Khanal, S., Anderson, R.D., Cox, L.L., Enriquez Estrada, B., Rachubinski, A.L., Lyford, H.R., Britton, E.C., Fantauzzo, K.A., Orlicky, D.J., Matsuda, J.L., Song, K., Cox, T.C., Sullivan, K.D. & Espinosa, J.M. (2023) Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model. Nature Genetics 55(6):1034-1047. doi: 10.1038/s41588-023-01399-7. PMID: 37277650.

Wilderman, A., D’haene, E., Baetens, M., Yankee, T.N., Wentworth-Winchester, E., Glidden, N., Roets, E., Van Dorpe, J., Janssens, S., Miller, D.E., Galey, M., Brown, K.M., Stottmann, R.W., Vergult, S., Weaver, K.N., Brugmann, S.A., Cox, T.C. & Cotney, J. (2024) A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development. Nature Communications 15:136. doi: 10.1038/s41467-023-44506-2.

Li, Q., Faux, P., Wentworth, E., Yang, G., Chen, Y., Ramírez, L.M., Fuentes-Guajardo, M., Poloni, L., Steimetz, E., Gonzalez-José, R., Acuña, V., Bortolini, M-C., Poletti, G., Gallo, C., Rothhammer, F., Rojas, W., Zheng, Y., Cox, J.C., Patel, V., Hoffman, M., Cotney, J., Navarro, N., Cox, T.C., Delgado, M., Adhikari, K. & Ruiz-Linares, A. PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans. Current Biology 35:131-144.e6. doi: 10.1016/j.cub.2024.11.027. PMID: 39672157.  

Chainaphaphorn, P., Ngamphiw, C., Tongsima, S., Chintakanon, K., Kawasaki, K., Cox, T.C., Ketudat Cairns, J.R., Ohazama, A., & Kantaputra, P. (2025) Genetic variants in KIF7 may contribute to supernumerary tooth formation. International Dental Journal 75(5):100928. doi.org/10.1016/j.identj.2025.100928 0020-6539/. PMID: 40774045.

Osorio-Osorno, Y.A., Parada-Sanchez, M.T., Cox, L.L. & Cox, T.C. (2025) IRF6 C-terminal phosphorylation links inflammation and cell-cell adhesion in oral keratinocytes: implications for oral lichen planus. BMC Immunology Accepted.

Links

Current memberships

  • Society for Craniofacial Genetics and Developmental Biology (SCGDB)
  • American Society of Human Genetics (ASHG)
  • European Society of Human Genetics (ESHG)
  • Society for Birth Defects Research and Prevention (BDRP)
  • Society for Developmental Biology (SDB)
  • American Society for Cell Biology (ASCB)
  • American Association for Anatomy (AAA)
  • American Society for Nutrition (ASN)
  • American Association for the Advancement of Science (AAAS)
  • The African Society for Dental and Craniofacial Genetics (ASDCG)
  • International Society for Craniofacial Surgery (ISCFS)
  • Kansas City Bone and Tooth Society

Research Awards

  • NICHD (NIH) R01 Grant #HD113989 – Role: PI Impact of maternal dietary vitamin A on risk and severity of cleft lip/palate in genetically sensitized embryos. 08/2024-07/2029
  • NIDCR (NIH) R03 Grant #DE034548 - Role: PI Discovery of regulatory and cryptic splice-impacting variants in facial ectoderm-expressed genes: secondary analysis of GMKF orofacial cleft data. 07/2025-06/2027  
  • NIDCR (NIH) R01 Grant #DE033098 – Role: co-I Principal Investigator: D Clouthier (University of Colorado-Denver) The role of GATA3 in hemifacial microsomia. 03/2024-02/2029
  • NHMRC (Australia) Ideas Grant #2039398 - Role: Chief Investigator B Chief Investigator A: E McGlinn (Australian Regenerative Medicine Institute)In utero correction of craniofacial malformations. 01/2025-12/2028
  • NIH R01 Grant (1 percent ile; pending council decision, September) - Role: co-I   Principal Investigator: R. Cornell (University of Washington)                                    Functional tests of non-coding DNA variants associated with risk of orofacial clefting.        

Endowments and Bequests

  • Stowers Family Trust/BioMed Valley (Endowment) - Role: PI 08/2018-ongoing
  • Langford Family Trust - Role: PI 07/2024-06/2027

Current Graduate Faculty Appointments

  • Oral and Craniofacial Sciences, School of Dentistry
  • Cell Biology and Biophysics, School of Science and Engineering (Biological Sciences)
  • Molecular Biology and Biochemistry, School of Science and Engineering (Biological Sciences)