T. Cox

Mohamed G. Hassan, Hanan A. Ismail, T. Cox, 2022, American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics.

X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.

T. Cox, J. Wiley, B. May, 1994, The New England journal of medicine.

Massively Increased Caries Susceptibility in an Irf6 Cleft Lip/Palate Model

T. Cox, B. Tamasas, Timothy C. Cox, 2017, Journal of dental research.

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

J. Martín, T. Cox, M. Somerman, 2016, Journal of dental research.

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

Marc S. Williams, E. Zackai, C. Haldeman-Englert, 2021, American journal of human genetics.

Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?

D. David, D. Netherway, T. Roscioli, 2006, The Journal of craniofacial surgery.

No evidence for cumulative effects in a Dnmt3b hypomorph across multiple generations

G. Kay, J. Matthews, T. Cox, 2013, Mammalian Genome.

In-silico QTL mapping of postpubertal mammary ductal development in the mouse uncovers potential human breast cancer risk loci

C. Creighton, M. Rijnkels, T. Cox, 2014, Mammalian Genome.

PiT-2, a type III sodium-dependent phosphate transporter, protects against vascular calcification in mice with chronic kidney disease fed a high-phosphate diet.

Jia Jun Chia, T. Cox, C. Giachelli, 2018, Kidney international.

p27(kip1) Knockout enhances collateralization in response to hindlimb ischemia.

T. Cox, G. Tang, Kevin Weitz, 2016, Journal of vascular surgery.

Interferon receptor gene dosage determines diverse hallmarks of Down syndrome

J. Espinosa, M. Galbraith, Z. Andrysik, 2022, bioRxiv.

Retreatability of two endodontic sealers, EndoSequence BC Sealer and AH Plus: a micro-computed tomographic comparison

T. Cox, A. Paranjpe, James D. Johnson, 2016, Restorative dentistry & endodontics.

Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold.

M. Massiah, T. Cox, J. Matts, 2007, Journal of molecular biology.

Molecular regulation of heme biosynthesis in higher vertebrates.

T. Cox, T. Sadlon, C. Bhasker, 1995, Progress in nucleic acid research and molecular biology.

Solution structure of the RBCC/TRIM B-box1 domain of human MID1: B-box with a RING.

M. Massiah, T. Cox, K. Short, 2006, Journal of molecular biology.

Effects of Multi-Generational Soft Diet Consumption on Mouse Craniofacial Morphology

Nathan M. Young, Mohamed G. Hassan, T. Cox, 2020, Frontiers in Physiology.

Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate

C. Wade, H. Brand, M. Marazita, 2015, PLoS genetics.

Microtia: Epidemiology and genetics

M. Cunningham, T. Cox, C. Heike, 2012, American journal of medical genetics. Part A.

Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment

A. Auton, V. Vacic, B. Alipanahi, 2017, American journal of human genetics.

Microtomographic Analysis of Lower Urinary Tract Obstruction

I. Glass, T. Cox, J. Siebert, 2013, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

NAD precursors cycle between host tissues and the gut microbiome

J. Baur, T. Cox, W. Lu, 2021, bioRxiv.

Inhibition of Notch Signaling During Mouse Incisor Renewal Leads to Enamel Defects

O. Klein, T. Cox, C. Siebel, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Title Inhibition of Notch Signaling During Mouse Incisor Renewal Leads to Enamel Defects Permalink

O. Klein, T. Cox, C. Siebel, 2015 .

Isl1 Controls Patterning and Mineralization of Enamel in the Continuously Renewing Mouse Incisor

Kyle B. Jones, O. Klein, T. Cox, 2017, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.

J. Gécz, J. Mulley, T. Cox, 2000, Genomics.

Facial suture synostosis of newborn Fgfr1(P250R/+) and Fgfr2(S252W/+) mouse models of Pfeiffer and Apert syndromes.

M. Cunningham, T. Cox, A. Maga, 2011, Birth defects research. Part A, Clinical and molecular teratology.

New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.

E. Haan, B. Goodwin, T. Cox, 2000, Human molecular genetics.

A distal 594 bp ECR specifies Hmx1 expression in pinna and lateral facial morphogenesis and is regulated by the Hox-Pbx-Meis complex

E. Turner, A. Visel, J. Akiyama, 2016, Development.

Heterozygous Mutations of FREM 1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2019 .

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

L. Vissers, J. Veltman, K. Sekiguchi, 2011, PLoS genetics.

Title Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2022 .

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)

A. Ballabio, H. Kayserili, T. Cox, 2001, Journal of medical genetics.

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

T. Spector, D. Balding, G. Bedoya, 2021, Science Advances.

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Justin L Cotney, T. Cox, Ellen Roets, 2022, bioRxiv.

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

I. Scheffer, J. Gécz, J. Christodoulou, 2010, Twin Research and Human Genetics.

Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing.

J. Conboy, T. Cox, B. May, 1992, The Journal of biological chemistry.

Rapamycin treatment attenuates age-associated periodontitis in mice

P. Rabinovitch, M. Kaeberlein, T. Cox, 2017, GeroScience.

Primary Publications Number of Publications

Hirst, P. J. Anderson, Rood, 2022 .

Multidisciplinary Management of Opitz G BBB Syndrome

D. David, T. Cox, P. Anderson, 2005, Annals of plastic surgery.

Subclassification of the RBCC/TRIM Superfamily Reveals a Novel Motif Necessary for Microtubule Binding*

T. Cox, K. Short, 2006, Journal of Biological Chemistry.

Discovery and characterization of spontaneous mouse models of craniofacial dysmorphology.

Mohamed G. Hassan, S. Murray, L. Donahue, 2016, Developmental biology.

Mutation discovery in mice by whole exome sequencing

E. Mauceli, F. Di Palma, K. Lindblad-Toh, 2011, Genome Biology.

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

A case of Beare–Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype

T. Roscioli, T. Cox, M. Buckley, 2006, Clinical dysmorphology.

Identification and Characterization of a Conserved Erythroid-specific Enhancer Located in Intron 8 of the Human 5-Aminolevulinate Synthase 2 Gene*

Timothy C. Cox, T. Cox, B. May, 1998, The Journal of Biological Chemistry.

Transcriptional Regulation of the Human Erythroid 5-Aminolevulinate Synthase Gene

T. Cox, B. May, K. H. Surinya, 1997, The Journal of Biological Chemistry.

Rapamycin rejuvenates oral health in aging mice

M. Kaeberlein, T. Cox, C. Kaczorowski, 2019, bioRxiv.

FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules.

A. Ashworth, T. Cox, S. Swift, 1999, Genomics.

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.

J. Mulley, T. Cox, W. Raskind, 1992, Human molecular genetics.

Erythroid 5-aminolevulinate synthase is located on the X chromosome.

G. Sutherland, T. Cox, N. Abraham, 1990, American journal of human genetics.

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

Hanlin Gao, R. Maas, A. Suzuki, 2020, Genes.

Utility and limitations of animal models for the functional validation of human sequence variants

Timothy C Cox, T. Cox, 2015, Molecular genetics & genomic medicine.

Perspectives and challenges in advancing research into craniofacial anomalies

M. Cunningham, T. Cox, D. Luquetti, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis

T. Cox, F. Hildebrandt, Lauren W. Wang, 2019, Nature Communications.

Complementation of a yeast CYC3 deficiency identifies an X-linked mammalian activator of apocytochrome c.

T. Cox, Q. Schwarz, Quenten Schwarz, 2002, Genomics.

Expression of three spalt (sal) gene homologues in zebrafish embryos

T. Cox, M. Lardelli, R. Kortschak, 2003, Development Genes and Evolution.

MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders

T. Cox, K. Short, B. Hopwood, 2002, BMC Cell Biology.

Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.

R. Harvey, T. Cox, D. Thorburn, 2008, Developmental cell.

Genetic evidence for conserved non-coding element function across species–the ears have it

E. Turner, T. Cox, 2014, Front. Physiol..

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

E. Turner, T. Serikawa, T. Cox, 2012, Disease Models & Mechanisms.

Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia and branchial arches of avian and mammalian embryos

E. Turner, T. Serikawa, T. Cox, 2012 .

The microtubule-associated C-I subfamily of TRIM proteins and the regulation of polarized cell responses.

T. Cox, 2012, Advances in experimental medicine and biology.

Deletion of a conserved regulatory element required for Hmx 1 expression in craniofacial mesenchyme in the dumbo rat : a novel cause of congenital ear malformation

E. Turner, T. Serikawa, T. Cox, 2012 .

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

E. Zackai, H. Hakonarson, Yiran Guo, 2021, Human Genetics.

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

S. Scherer, R. Pfundt, H. Hakonarson, 2023, American journal of medical genetics. Part A.

Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis.

T. Cox, C. Bhasker, B. May, 1990, Molecular biology & medicine.

Hmx1 is required for the normal development of somatosensory neurons in the geniculate ganglion.

Yun-Wei A Hsu, E. Turner, T. Cox, 2012, Developmental biology.

A micro-computed tomography-based comparison of the canal transportation and centering ability of ProTaper Universal rotary and WaveOne reciprocating files.

Timothy C Cox, Blake McRay, Nestor Cohenca, 2014, Quintessence international.

Osseous characteristics of mice lacking cannabinoid receptor 2 after pulp exposure.

T. Cox, N. M. Flake, E. P. Nikolaeva, 2015, Journal of endodontics.

Sonic Hedgehog upregulation does not enhance the survival and engraftment of stem cell-derived cardiomyocytes in infarcted hearts

S. Schwartz, T. Cox, C. Murry, 2020, PloS one.

Lack of association between the A118G polymorphism of the mu opioid receptor gene (OPRM1) and opioid dependence: A meta-analysis

A. Somogyi, T. Cox, J. Coller, 2009, Pharmacogenomics and personalized medicine.

A very high density microsatellite map (1 STR / 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region

A. Ballabio, T. Cox, L. Cox, 1998, European Journal of Human Genetics.

Evaluation and integration of disparate classification systems for clefts of the lip

J. Mejino, J. Brinkley, T. Cox, 2014, Front. Physiol..

Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate

J. Murray, T. Cox, E. Chu, 2017, Journal of dental research.

X-linked microtubule-associated protein, Mid1, regulates axon development

A. Ashworth, L. Richards, N. Kurniawan, 2013, Proceedings of the National Academy of Sciences.

The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity

N. Krogan, S. Finkbeiner, Jeffrey R. Johnson, 2020, bioRxiv.

Microcomputed tomography of craniofacial mineralized tissue: A practical user's guide to study planning and generating quality data.

Timothy C Cox, T. Cox, 2020, Bone.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

GATA3 is essential for separating patterning domains during facial morphogenesis.

J. D. Engel, T. Cox, K. Lim, 2021, Development.

Automated Detection of 3D Landmarks for the Elimination of Non-Biological Variation in Geometric Morphometric Analyses

Linda G. Shapiro, Timothy C. Cox, Deepali Aneja, 2015, 2015 IEEE 28th International Symposium on Computer-Based Medical Systems.

A landmark-free framework for the detection and description of shape differences in embryos

Linda G. Shapiro, Timothy C. Cox, S. M. Rolfe, 2011, 2011 Annual International Conference of the IEEE Engineering in Medicine and Biology Society.

Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

J. Espinosa, M. Galbraith, Z. Andrysik, 2023, Nature Genetics.

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

T. Roscioli, T. Cox, A. Bankier, 2005, Journal of Medical Genetics.

SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway‐Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification

Jia Jun Chia, T. Cox, M. Wallingford, 2017, Brain pathology.

Preferential Associated Anomalies in 818 Cases of Microtia in South America

M. Cunningham, T. Cox, D. Luquetti, 2013, American journal of medical genetics. Part A.

Analysis of Intracranial Volume in Apert Syndrome Genotypes

D. David, A. Abbott, T. Roscioli, 2004, Pediatric Neurosurgery.

Towards understanding craniofacial abnormalities: the ontology of craniofacial development and malformation.

Landon T. Detwiler, J. Mejino, L. Shapiro, 2013, AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science.

Associations between laterality of orofacial clefts and medical and academic outcomes

B. Collett, M. Cunningham, T. Cox, 2018, American journal of medical genetics. Part A.

Cyclin-Dependent Kinase-Like 5 ( CDKL 5 ) Mutation Screening in Rett Syndrome and Related Disorders

I. Scheffer, J. Gécz, J. Christodoulou, 2010 .

The spontaneous mouse mutant low set ears (Lse) is caused by tandem duplication of Fgf3 and Fgf4

S. Murray, L. Donahue, L. Reinholdt, 2023, Mammalian Genome.

Purifying natively folded proteins from inclusion bodies using sarkosyl, Triton X-100, and CHAPS.

M. Massiah, T. Cox, Brandi N Simmons, 2010, BioTechniques.

Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth

S. Tongsima, T. Cox, P. Kantaputra, 2023, International journal of molecular sciences.

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants

S. Murray, A. Bauer, M. Cunningham, 2022, Disease models & mechanisms.