Skip to main content


Timothy Cox, PhD

Timothy Cox, PhD

Children's Title: Laurel Foundation Endowed Chair in Pediatric Craniofacial Medicine

Academic Title: Research Professor of Pediatrics at the University of Washington

Research Center: Center for Developmental Biology and Regenerative Medicine

"I have always been drawn to understanding how biological structures take form. The face is one of the most complex structures in terms of how it develops into a functional organ. It is also one of the most amazing, given how much we depend on it for recognition of self, family, friends and strangers. Facial abnormalities affect not only feeding, breathing and self-esteem, but also sadly how individuals are viewed by and integrated into society. Researching how genes and environmental factors contribute to facial birth defects such as cleft lip will, I hope, one day help lead to preventive strategies to minimize the burden on children and their families."


Research Description

My primary research interests focus on the genetic and epigenetic factors that regulate development of the craniofacial region and how perturbations in these factors contribute in particular to the presentation of cleft lip and palate. I have also had a long interest and involvement in both X-linked and mitochondrial diseases. My research team employs existing and newly developed in-house genetic technologies to create and investigate mouse and chick embryo models of cleft lip and palate. My interests also extend to other craniofacial malformations (most notably the craniosynostoses) and the development of strategies to better diagnose, manage and counsel patients.


Research Focus Area

Translational Research, Craniofacial

Awards and Honors

Award NameAward DescriptionAwarded ByAward Date
Recipient, Laurel Foundation Endowed Chair in Pediatric Craniofacial ResearchUniversity of Washington 2011
Recipient, Keith Sheridan Research Associateship 2004
Elected President, Australia & New Zealand Society for Cell & Developmental Biology (2 year term) 2000
Recipient, NH & MRC R. Douglas Wright Award (4 years) 1999
Recipient, AMRAD Post-Doctoral Award for Excellence in Biomedical Research 1996
Certificate of Merit, Pharmacia Biotech & Science Prize for Young Scientists 1995
Recipient, NH & MRC C.J. Martin Post-Doctoral Training Fellowship (4 years) 1994
Commendation, South Australian Young Achiever's Award 1992 - 1993
Recipient, Promega (Australia) National Student Award 1992
Recipient, NH & MRC Biomedical Postgraduate Scholarship 1990


A micro-computed tomography-based comparison of the canal transportation and centering ability of ProTaper Universal rotary and WaveOne reciprocating files.
Quintessence international (Berlin, Germany : 1985) , 2014 Feb: 45(2)101-8
Genetic evidence for conserved non-coding element function across species-the ears have it.
Frontiers in physiology , 2014: 57
X-linked microtubule-associated protein, Mid1, regulates axon development.
Proceedings of the National Academy of Sciences of the United States of America , 2013 Nov 19: 110(47)19131-6
Microtomographic analysis of lower urinary tract obstruction.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society , 2013 Nov-Dec: 16(6)405-14
Towards understanding craniofacial abnormalities: the ontology of craniofacial development and malformation.
AMIA Summits on Translational Science proceedings AMIA Summit on Translational Science , 2013: 201320
Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation.
Disease models & mechanisms , 2012 Nov: 5(6)812-22
Comparing canal transportation and centering ability of endosequence and vortex rotary files by using micro-computed tomography.
Journal of endodontics , 2012 Aug: 38(8)1121-5
Comparative computational modeling of airflows and vapor dosimetry in the respiratory tracts of rat, monkey, and human.
Toxicological sciences : an official journal of the Society of Toxicology , 2012 Aug: 128(2)500-16
Branch-based model for the diameters of the pulmonary airways: accounting for departures from self-consistency and registration errors.
Anatomical record (Hoboken, N.J. : 2007) , 2012 Jun: 295(6)1027-44
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
American journal of human genetics , 2012 May 4: 90(5)907-14
Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion.
Developmental biology , 2012 May 1: 365(1)152-63
Microtia: Epidemiology and genetics.
American journal of medical genetics. Part A , 2012 Jan: 158A(1)124-39
Mutation discovery in mice by whole exome sequencing.
Genome biology , 2011 Sep 14: 12(9)R86
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
PLoS genetics , 2011 Sep: 7(9)e1002278
Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.
Birth defects research. Part A, Clinical and molecular teratology , 2011 Jul: 91(7)603-9
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Journal of medical genetics , 2011 Jun: 48(6)375-82
Efficacy of sonic and ultrasonic activation for removal of calcium hydroxide from mesial canals of mandibular molars: a microtomographic study.
Journal of endodontics , 2011 Feb: 37(2)235-8
Vascular remodeling of the vitelline artery initiates extra-vascular emergence of hematopoietic clusters.
Blood , 2010 Aug 10
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
Twin research and human genetics : the official journal of the International Society for Twin Studies , 2010 Apr: 168-78
Maternal ethanol consumption alters the epigenotype and the phenotype of offspring in a mouse model.
PLoS genetics , 2010 Jan 15: e1000811
Purifying natively folded proteins from inclusion bodies using sarkosyl, Triton X-100, and CHAPS.
BioTechniques , 2010 Jan: 61-4
Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.
Developmental cell , 2008 Oct: 521-33
Structure of the MID1 tandem B-boxes reveals an interaction reminiscent of intermolecular ring heterodimers.
Biochemistry , 2008 Feb 26: 2450-7
A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development.
Genome biology , 2008: R182
Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.
Journal of molecular biology , 2007 May 25: 1-10
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
The Journal of craniofacial surgery , 2007 Mar: 312-4
Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING.
Journal of molecular biology , 2006 Apr 28: 532-45
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
Clinical dysmorphology , 2006 Apr: 89-93
Subclassification of the RBCC/TRIM superfamily reveals a novel motif necessary for microtubule binding.
The Journal of biological chemistry , 2006 Mar 31: 8970-80
Expression profiles of cIRF6, cLHX6 and cLHX7 in the facial primordia suggest specific roles during primary palatogenesis.
BMC developmental biology , 2006 Mar 24: 18
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.
American journal of medical genetics. Part A , 2005 Jan 1: 1-7
The major splice variant of human 5-aminolevulinate synthase-2 contributes significantly to erythroid heme biosynthesis.
The international journal of biochemistry & cell biology , 2004 Feb: 281-95
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.
American journal of medical genetics. Part A , 2003 Nov 15: 37-44
Expression of three spalt (sal) gene homologues in zebrafish embryos.
Development genes and evolution , 2003 Feb: 35-43
Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c.
Genomics , 2002 Jan: 51-7

Research Funding

Grant TitleGrantorAmountAward Date
Hmx1 Enhancer Function in Craniofacial DevelopmentSeattle Children's Research Institute $30,000 2013 - 2013
Genetic and Developmental Pathways Causing Midfacial HypoplasiaNIH NIDCR $2,278,095 2012 - 2017
Comprehensive Training in Inter-Disciplinary Oral Health ResearchNIH NIDCR 2012 - 2017
Laboratory of Developmental BiologyNIH NICHD $1,802,560 2011 - 2016
Shape-Based Retrieval of 3D Craniofacial DataNIH NIDCR $1,560,286 2011 - 2014
Identifying New Genes for Craniosynostosis-Related Midfacial HypoplasiaJorge Posada Foundation, USA $195,000 2010 - 2013
The Role of Nectins in Fusion of the Midface and Genesis of Cleft Lip and PalateNIH NIDCR $990,000 2008 - 2013

Primary Office

Seattle Children's Research Institute
JMB - 5 - Center for Developmental Biology and Regenerative Medicine
1900 - 9th Ave
Seattle, WA 98101

Find a Doctor or Researcher

Find a Doctor or Researcher

Type the first or last name you are searching for or select a specialty.

Doctor or Researcher Name:

More search options