Dr. Cox

Dr. Cox

Timothy Cox, PhD

Office: Seattle Children’s Research Institute
Lab: Building one, Center for Tissue & Cell Sciences
Box: 359300
Email: tccox@uw.edu

Laurel Endowed Chair in Craniofacial Research
Adjunct Professor, Oral Health Sciences
Professor, Pediatrics


My research interests lie in understanding the molecular and developmental basis of human craniofacial malformations, such as cleft lip and palate (CLP) and midface hypoplasia (a major cause of malocclusion). My laboratory is located within the new Seattle Children’s Research Institute as is part of both the Department of Pediatrics (Division of Craniofacial Medicine) and the Children’s Craniofacial Center.

We use both cell culture and animal model systems (mouse and chick) as a means to investigate the function of genes in the orofacial epithelia and the impact of specific environmental or dietary factors on early craniofacial/ cranioskeletal growth and the susceptibility to these common facial defects. Numerous molecular genetic, biochemical, cell biological and embryological techniques are utilized. An emerging important component of the work is our ability to quantitatively assess 3-dimensional and 4-dimensional (ie. time being the fourth dimension) changes in craniofacial shape using the latest tomographic imaging systems.


  1. Rolfe, S.M., Shapiro, L.G., COX, T.C., Maga, A.M., Cox, L.L. (2011) A landmark-free framework for the detection and description of shape differences in embryos. Proceedings of the 31st Annual International Conference of the IEEE EMBS. in press.
  2. Fairfield, H., Gilbert, G., Barter, M., Corrigan, R., Curtain, M., Ding, Y., D’Ascenzo, M., Gerhardt, D., He, C., Huang, W., Richmond, T., Rowe, L., Probst, F.J., Bergstrom, D., Murray, S., Bult, C., Richardson, J., Cunningham, M.L., COX, T.C., Justice, M., Spector, M.S., Lowe, S.W., Albert, T., Kile, B., Gut, I., Hager, J., Donahue, L-R., Jeddeloh, J., Shendure, J., Reinholdt, L.G. (2011) Mutation discovery in mice by whole exome sequencing. Genome Biology [Exome Sequencing Special Issue] 12:R86 doi:10.1186/gb-2011-12-9-r86.
  3. Purushothaman, R., COX, T.C., Maga, A.M. & Cunningham, M.L. (2011) Midfacial abnormalities of newborn Fgfr1P250R/+ and Fgfr2S252W/+ mouse models of Pfeiffer and Apert syndromes. Birth Defects Research Part A: Clinical and Molecular Teratology. 91(7):603-609. PMID: 21538817.
  4. *Vissers, L.E.L.M., *COX, T.C., *Maga, A.M., Short, K.M., Wirdajaja, F., Janssen, I.M., Jehee, F., Bertola, D., Liu, J., Yagnik, G., Sekiguchi, K., Kiyozumi, D., van Bokhoven, H., Marcelis, C., Cunningham, M.L., Anderson, P.J., Boyadjiev, S., Passos-Buenos, M-R., Veltman, J.A., Smyth, I., Buckley, M.F., & Roscioli, T. (2011) Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genetics  7(9): e1002278.doi:10.1371/ journal. pgen.1002278.  *authors contributed equally to this work.
  5. Slavotinek, A.M., Baranzini, S.E., Schanze, D., Labelle-Dumais, C., Short, K.M., Chao, R., Yahyavi, M., Bijlsma, E.K., Chu, C., Musone, S., Wheatley, A., Kwok, P-Y., Marles, S., Li, C., Fryns, J-P., Maga, A.M., Hassan, M.G., Gould, D.B., Madireddy, L., COX, T.C., Smyth, I., Chudley, A.E., Zenker, M. (2011) Manitoba-Oculo-Tricho-Anal (MOTA) syndrome is caused by mutations in FREM1. Journal of Medical Genetics. 48:375-382. PMID: 21507892.
  6. Kaminen-Ahola, N., Ahola, A., Maga, M., Mallitt, K-A., Fahey, P., COX, T.C., Whitelaw, E., & Chong, S. (2010) Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model. PLoS Genetics 6(1) e1000811. doi:10.1371/journal.pgen.1000811. PMID: 20084100. [also included in the PLoS Genetics: Epigenetics 2010 Collection]
  7. Drenckhahn, J.D., Schwarz, Q.P. Gray, S., Laskowski, A., Kiriazis, H., Ming, Z., Harvey, R.P., Du, X.J., Thorburn, D.R. & COX, T.C. (2008) Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development. Developmental Cell. 15:521-533. PMID: 18854137.
  8. Ashe, A., Morgan, D.K., Whitelaw, N., Bruxner, T.J., Vickaryous, N.K., Cox, L.L., Butterfield, N.C.,Wicking, C., Blewitt, M., Wilkins, S., Anderson, G., COX, T.C. & Whitelaw, E. (2008) A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development. Genome Biology. 9(12):R182 doi:10.1186/gb-2008-9-12-r182. PMID: 19099580.
  9. Washbourne, B.J. & COX, T.C. (2006) Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis. BMC Developmental Biology. 6:18. PMID: 16563169.
  10. COX, T.C. (2004) Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology. Clinical Genetics 65:163-176. (Invited Review)

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