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Professor Paul Thomas

Paul Thomas
Adelaide Medical School
Faculty of Health and Medical Sciences

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Professor Paul Thomas

Eligible to supervise Masters and PhD — email supervisor to discuss availability.

My research over the past 20 years has focussed on the identification and functional analysis of causative genes for intellectual disability, epilepsy and disorders of sexual development.  My contribution to this field includes the identification and/or functional analysis of six causative genes for neurodevelopmental disorders and many publications in the highest quality biomedical journals (7 in Nature Genetics) with over 5,000 citations, including 4 papers with 300+ cites. My strong track record in genetic disease research has been rewarded by highly competitive fellowship/grant support including a prestigious Pfizer Australia Research Fellowship and NHMRC Program Grant.


Date Position Institution name
2014 Director, SA Genome Editing University of Adelaide, Adelaide
2014 - 2017 Head of Discipline of Biochemistry University of Adelaide, Adelaide
2013 Professor (Level E) University of Adelaide, Adelaide
2013 Senior Principal Research Fellow and Professor South Australian Health and Medical Research Institute, Adelaide


Date Institution name Country Title
1995 University of Adelaide, Adelaide Australia Ph. D.
1991 University of Adelaide, Adelaide Australia (Hons)
1990 University of Adelaide, Adelaide Australia B.Sc


Year Citation
2018 Pederick, D., Richards, K., Piltz, S., Kumar, R., Mincheva-Tasheva, S., Mandelstam, S., . . . Thomas, P. (2018). Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy. Neuron, 97(1), 59-e5.
DOI Scopus2 WoS2 Europe PMC2
2018 Homan, C., Pederson, S., To, T. -H., Tan, C., Piltz, S., Corbett, M., . . . Gecz, J. (2018). PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy. Neurobiology of Disease, 116, 106-119.
2018 Page, E., Heatley, S., Yeung, D., Thomas, P., & White, D. (2018). Precision medicine approaches may be the future for CRLF2 rearranged Down Syndrome Acute Lymphoblastic Leukaemia patients. Cancer letters, 432, 69-74.
2018 Adikusuma, F., Piltz, S., Corbett, M., Turvey, M., McColl, S., Helbig, K., . . . Thomas, P. (2018). Large deletions induced by Cas9 cleavage. Nature, 560(7717), E8-E9.
DOI Scopus1 Europe PMC1
2018 Wilkins, K., Prowse, T., Cassey, P., Thomas, P., & Ross, J. (2018). Pest demography critically determines the viability of synthetic gene drives for population control. Mathematical Biosciences, 305, 160-169.
2017 Prowse, T., Cassey, P., Ross, J., Pfitzner, C., Wittmann, T., & Thomas, P. (2017). Dodging silver bullets: good CRISPR gene-drive design is critical for eradicating exotic vertebrates.. Proceedings of the Royal Society B: Biological Sciences, 284(1860), 20170799-1-20170799-10.
DOI Scopus11 WoS10 Europe PMC5
2017 Pham, D., Tan, C., Homan, C., Kolc, K., Corbett, M., McAninch, D., . . . Gecz, J. (2017). Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα). Human Molecular Genetics, 26(11), 2042-2052.
DOI Scopus2 WoS2 Europe PMC2
2017 Adikusuma, F., Pederick, D., McAninch, D., Hughes, J., & Thomas, P. (2017). Functional equivalence of the SOX2 and SOX3 transcription factors in the developing mouse brain and testes. Genetics, 206(3), 1495-1503.
DOI Scopus5 WoS7 Europe PMC4
2017 Adikusuma, F., Williams, N., Grutzner, F., Hughes, J., & Thomas, P. (2017). Targeted Deletion of an Entire Chromosome Using CRISPR/Cas9. Molecular Therapy, 25(8), 1736-1738.
DOI Scopus4 WoS4 Europe PMC4
2017 Van Der Hoek, K., Eyre, N., Shue, B., Khantisitthiporn, O., Glab-Ampi, K., Carr, J., . . . Beard, M. (2017). Viperin is an important host restriction factor in control of Zika virus infection. Scientific Reports, 7(1), 4475 -1-4475-14.
DOI Scopus16 WoS17 Europe PMC12
2017 Shi, H., Enriquez, A., Rapadas, M., Martin, E., Wang, R., Moreau, J., . . . Dunwoodie, S. (2017). NAD deficiency, congenital malformations, and niacin supplementation. New England Journal of Medicine, 377(6), 544-552.
DOI Scopus13 WoS13 Europe PMC8
2017 Hughes, J., Dawson, R., Tea, M., McAninch, D., Piltz, S., Jackson, D., . . . Thomas, P. (2017). Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling. Scientific Reports, 7(1), 12618-1-12618-15.
DOI Scopus7 WoS5 Europe PMC4
2017 Adikusuma, F., Pfitzner, C., & Thomas, P. (2017). Versatile single-step-assembly CRISPR/Cas9 vectors for dual gRNA expression. PloS one, 12(12), 1-11.
DOI Scopus1 WoS1 Europe PMC1
2016 Ling, K., Brautigan, P., Moore, S., Fraser, R., Cheah, P., Raison, J., . . . Scott, H. (2016). Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain. Genomics, 107(2-3), 88-99.
DOI Scopus8 WoS7 Europe PMC8
2016 Ling, K., Brautigan, P., Moore, S., Fraser, R., Leong, M., Leong, J., . . . Scott, H. (2016). In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts. Data in Brief, 7, 282-290.
DOI Scopus2 Europe PMC2
2016 Hughes, J., Aubert, M., Heatlie, J., Gardner, A., Gecz, J., Morgan, T., . . . Thomas, P. (2016). Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism. Clinical Endocrinology, 85(4), 609-615.
DOI Scopus10 WoS10 Europe PMC6
2016 Pederick, D., Homan, C., Jaehne, E., Piltz, S., Haines, B., Baune, B., . . . Thomas, P. (2016). Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in mice. Scientific Reports, 6(1), 26765-1-26765-10.
DOI Scopus11 WoS11 Europe PMC9
2016 Ricos, M., Hodgson, B., Pippucci, T., Saidin, A., Ong, Y., Heron, S., . . . Dibbens, L. (2016). Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Annals of Neurology, 79(1), 120-131.
DOI Scopus43 WoS37 Europe PMC28
2015 Polling, S., Ormsby, A., Wood, R., Lee, K., Shoubridge, C., Hughes, J., . . . Hatters, D. (2015). Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation. Nature Structural and Molecular Biology, 22(12), 1008-1015.
DOI Scopus18 WoS18 Europe PMC16
2015 Tan, C., Shard, C., Ranieri, E., Hynes, K., Pham, D., Leach, D., . . . Gecz, J. (2015). Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human Molecular Genetics, 24(18), 5250-5259.
DOI Scopus21 WoS19 Europe PMC15
2015 Cheah, P., & Thomas, P. (2015). SOX3 expression in the glial system of the developing and adult mouse cerebellum. SpringerPlus, 4(1), 400-1-400-7.
DOI Scopus5 WoS5 Europe PMC3
2015 Haines, B., Hughes, J., Corbett, M., Shaw, M., Innes, J., Patel, L., . . . Thomas, P. (2015). Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal. The Journal of Clinical Endocrinology & Metabolism, 100(5), E815-E820.
DOI Scopus12 WoS11 Europe PMC6
2014 Rogers, N., McAninch, D., & Thomas, P. (2014). Dbx1 is a direct target of SOX3 in the spinal cord. PLoS One, 9(4), e95356-1-e95356-9.
DOI Scopus4 WoS4 Europe PMC2
2014 Klaric, T., Thomas, P., Dottori, M., Leong, W., Koblar, S., & Lewis, M. (2014). A reduction in Npas4 expression results in delayed neural differentiation of mouse embryonic stem cells. Stem Cell Research & Therapy, 5(3), 64-1-64-14.
DOI Scopus7 WoS7 Europe PMC7
2014 Alatzoglou, K. S., Azriyanti, A., Rogers, N., Ryan, F., Curry, N., Noakes, C., . . . Dattani, M. T. (2014). SOX3 deletion in mouse and human Is associated with persistence of the craniopharyngeal canal. Journal of Clinical Endocrinology and Metabolism, 99(12), E2702-E2708.
2014 McAninch, D., & Thomas, P. (2014). Identification of highly conserved putative developmental enhancers bound by SOX3 in neural progenitors using ChIP-Seq. PLoS One, 9(11), e113361-1-e113361-9.
DOI Scopus11 WoS10 Europe PMC8
2013 Wilhelm, D., Yang, J., & Thomas, P. (2013). Mammalian sex determination and gonad development. Current Topics in Developmental Biology, 106, 89-121.
DOI Scopus13 Europe PMC6
2013 Rogers, N., Cheah, P., Szarek, E., Banerjee, K., Schwartz, J., & Thomas, P. (2013). Expression of the murine transcription factor SOX3 during embryonic and adult neurogenesis. Gene Expression Patterns, 13(7), 240-248.
2013 Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature Genetics, 45(5), 546-551.
DOI Scopus143 WoS130 Europe PMC104
2013 Hughes, J., Piltz, S., Rogers, N., McAninch, D., Rowley, L., & Thomas, P. (2013). Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for x linked hypopituitarism. PLoS Genetics, 9(3), 1-9.
DOI Scopus10 WoS8 Europe PMC8
2012 Cirillo, J., Hughes, J., Ridding, M., Thomas, P., & Semmler, J. (2012). Differential modulation of motor cortex excitability in BDNF Met allele carriers following experimentally induced and use-dependent plasticity. European Journal of Neuroscience, 36(5), 2640-2649.
DOI Scopus38 WoS38 Europe PMC28
2012 Moalem, S., Babul-Hirji, R., Stavropolous, D., Wherrett, D., Bagli, D., Thomas, P., & Chitayat, D. (2012). XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication. American Journal of Medical Genetics. Part A, 158A(7), 1759-1764.
2012 Cheah, P., Ramshaw, H., Thomas, P., Toyo-oka, K., Xu, X., Martin, S., . . . Schwarz, Q. (2012). Neurodevelopmental and neuropsychiatric behaviour defects arise from 14-3-3ζ deficiency. Molecular Psychiatry, 17(4), 451-466.
DOI Scopus48 WoS43 Europe PMC38
2012 Lee, K., Tan, J., Morris, M., Rizzoti, K., Hughes, J., Cheah, P., . . . Thomas, P. (2012). Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice. PLoS One, 7(1), 1-12.
DOI Scopus14 WoS11 Europe PMC10
2012 Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Hughes, J., . . . Dibbens, L. (2012). PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), 152-160.
DOI Scopus146 WoS129 Europe PMC101
2011 Ling, K., Brautigan, P., Hahn, C., Daish, T., Rayner, J., Cheah, P., . . . Scott, H. (2011). Deep sequencing analysis of the developing mouse brain reveals a novel microRNA. BMC Genomics, 12(1), 1-15.
DOI Scopus39 WoS33 Europe PMC29
2011 Sutton, E., Hughes, J., White, S., Sekido, R., Tan, J., Arboleda, V., . . . Thomas, P. (2011). Identification of SOX3 as an XX male sex reversal gene in mice and humans. Journal of Clinical Investigation, 121(1), 328-341.
DOI Scopus123 WoS108 Europe PMC73
2011 Ling, K., Hewitt, C., Beissbarth, T., Hyde, L., Cheah, P., Smyth, G., . . . Scott, H. (2011). Spatiotemporal regulation of multiple overlapping sense and novel natural antisense transcripts at the Nrgn and Camk2n1 gene loci during mouse cerebral corticogenesis. Cerebral Cortex, 21(3), 683-697.
DOI Scopus21 WoS18 Europe PMC19
2010 Szarek, E., Cheah, P., Schwartz, J., & Thomas, P. (2010). Molecular genetics of the developing neuroendocrine hypothalamus. Molecular and Cellular Endocrinology, 323(1), 115-123.
2010 Thomas, P. Q., Hughes, J., Tan, J., Rogers, N., Sekido, R., Lovell-Badge, R., & Sutton, E. (2010). Expression of SOX3 in the urogenital ridge is associated with XX male sex reversal in mice. FASEB JOURNAL, 24, 1 page.
2009 Benko, S., Fantes, J. A., Amiel, J., Kleinjan, D. -J., Thomas, S., Ramsay, J., . . . Lyonnet, S. (2009). Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nature Genetics, 41(3), 359-364.
2009 Ling, K., Hewitt, C., Beissbarth, T., Hyde, L., Ghosal, K., Cheah, P., . . . Scott, H. (2009). Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling. Genome Biology (Online Edition), 10(10), 1-31.
DOI Scopus26 WoS22 Europe PMC23
2008 Dibbens, L., Tarpey, P., Hynes, K., Bayly, M., Scheffer, I., Smith, R., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nature Genetics, 40(6), 776-781.
DOI Scopus218 WoS200 Europe PMC152
2007 Solomon, N., Ross, S., Forrest, S., Thomas, P., Morgan, T., Belsky, J., . . . Warne, G. (2007). Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. Journal of Medical Genetics, 44(e75), e75-1.
2007 Lepore, D., Thomas, G., Knight, K., Hussey, A., Callahan, T., Wagner, J., . . . Thomas, P. (2007). Survival and differentiation of pituitary colony-forming cells in vivo. Stem Cells, 25(7), 1730-1736.
DOI Scopus29 WoS31 Europe PMC23
2007 Wagner, J., Lepore, D., & Thomas, P. (2007). Differentiation of mouse embryonic stem cells into growth hormone and prolactin expressing cells in vitro. Molecular and Cellular Endocrinology, 273(1-2), 68-74.
2007 Tarpey, P., Raymond, F., Nguyen, L., Rodriguez, J., Hackett, A., Vandeleur, L., . . . Gecz, J. (2007). Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. Nature Genetics, 39(9), 1127-1133.
DOI Scopus136 WoS132 Europe PMC119
2007 Wong, J., Farlie, P., Holbert, S., Lockhart, P., & Thomas, P. (2007). Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation. Frontiers in Bioscience, 12(6), 2085-2095.
DOI Scopus16 WoS14 Europe PMC10
2007 Wagner, J., & Thomas, P. (2007). Genetic determinants of mammalian pituitary morphogenesis. Frontiers in Bioscience, 12, 125-134.
2006 Lepore, D., Jokubaitis, V., Simmons, P., Roeszler, K., Rossi, R., Bauer, K., & Thomas, P. (2006). A role for angiotensin-converting enzyme in the characterization, enrichment, and proliferation potential of adult murine pituitary colony-forming cells. Stem Cells, 24(11), 2382-2390.
DOI Scopus23 WoS24 Europe PMC19
2006 Raetzman, L., Wheeler, B., Ross, S., Thomas, P., & Camper, S. (2006). Persistent Expression of Notch2 Delays Gonadotrope Differentiation. Molecular Endocrinology, 20(11), 2898-2908.
DOI Scopus47 Europe PMC31
2005 Turton, J., Mehta, A., Raza, J., Woods, K., Tiulpakov, A., Cassar, J., . . . Dattani, M. (2005). Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clinical Endocrinology, 63(1), 10-18.
2005 Wilson, L., Ross, S., Lepore, D., Wada, T., Penninger, P., & Thomas, P. (2005). Developmentally regulated expression of the regulator of G-protein signaling gene 2 (Rgs2) in the embryonic mouse pituitary. Gene Expression Patterns, 5(3), 305-311.
2005 Woods, K., Cundall, M., Turton, J., Rizotti, K., Mehta, A., Palmer, R., . . . Dattani, M. (2005). Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. American Journal of Human Genetics, 76(5), 833-849.
2005 Lepore, D., Roeszler, K., Wagner, J., Ross, S., Bauer, K., & Thomas, P. (2005). Identification and enrichment of colony-forming cells from the adult murine pituitary. Experimental Cell Research, 308(1), 166-176.
2004 Thomas, P. (2004). The molecular genetics of pituitary development. Highlights, 12(4), 10-13.
2004 Jamshidi, N., Macciocca, I., Dargaville, P., Thomas, P., Kilpatrick, N., McKinlay Gardner, R., & Farlie, P. (2004). Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation. Journal of Medical Genetics, 41(1), e1-e5.
2004 Solomon, N., Ross, S., Morgan, T., Belsky, J., Hol, F., Karnes, P., . . . Forrest, S. (2004). Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. Journal of Medical Genetics, 41(9), 669-678.
2004 Raetzman, L., Ross, S., Cook, S., Dunwoodie, S., Camper, S., & Thomas, P. (2004). Developmental regulation of Notch signaling genes in the embryonic pituitary: Prop1 deficiency affects Notch2 expression.. Developmental Biology, 265(2), 329-340.
2004 Carmignac, D., Thomas, P., Robinson, I., Lovell-Badge, R., Brunelli, S., & Rizzoti, K. (2004). SOX3 is required during the formation of the hypothalamo-pituitary axis. Nature Genetics, 36(3), 247-255.
2003 Burdon, K., McKay, J., Sale, M., Russell-Eggitt, I., Mackey, D., Wirth, G., . . . Craig, J. (2003). Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. American Journal of Human Genetics, 73(5), 1120-1130.
DOI Scopus74 WoS68 Europe PMC57
2002 Lower, K., Turner, G., Kerr, B., Mathews, K., Shaw, M., Gedeon, A., . . . Gecz, J. (2002). Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome. Nature Genetics, 32(4), 661-665.
DOI Scopus124 WoS111 Europe PMC91
2002 Laumonnier, F., Ronce, N., Hamel, B., Thomas, P., Lespinasse, J., Raynaud, M., . . . Briault, S. (2002). Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. American Journal of Human Genetics, 71(6), 1450-1455.
2002 Solomon, N., Nouri, S., Warne, G., Lagerstrom-Fermer, M., Forrest, S., & Thomas, P. (2002). Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism. Genomics, 79(4), 553-559.
2002 Lynch, M., Cameron, T., Knight, M., Kwok, T., Thomas, P., Forrest, S., . . . Pyman, B. (2002). Structural and mutational analysis of antiquin as a candidate for gene for Meniere disease. American Journal of Medical Genetics. Part A, 110(4), 397-399.
2002 Mitchell, L., Thomas, P., Zacharin, M., & Scheffer, I. (2002). Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?. American Journal of Neuroradiology, 23(9), 1475-1481.
2001 Young, H., Hearn, C., Farlie, P., Canty, A., Thomas, P., & Newgreen, D. (2001). GDNF is a chemoattractant for enteric neural cells. Developmental Biology, 229(2), 503-516.
2001 Thomas, P., Dattani, M., Brickman, J., McNay, D., Warne, G., Zacharin, M., . . . Beddington, R. (2001). Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Human Molecular Genetics, 10(1), 39-45.
2000 Agarwal, G. (2000). Adrenocorticotropin Deficiency in Combined Pituitary Hormone Deficiency Patients Homozygous for a Novel PROP1 Deletion. Journal of Clinical Endocrinology & Metabolism, 85(12), 4556-4561.
2000 Barbera, J. P. M., Clements, M., Thomas, P., Rodriguez, T., Meloy, D., Kioussis, D., & Beddington, R. S. P. (2000). The homeobox gene Hex is required in definitive endodermal tissues for normal forebrain, liver and thyroid formation. Development, 127, 2433-2445.
2000 Dattani, M. T., Martinez-Barbera, J. -P., Thomas, P. Q., Brickman, J. M., Gupta, R., Wales, J. K., . . . Robinson, I. C. (2000). Molecular Genetics of Septo-Optic Dysplasia. Hormone Research in Paediatrics, 53(1), 26-33.
2000 Vesque, C., Ellis, S., Lee, A., Szabo, M., Thomas, P., Beddington, R., & Placzek, M. (2000). Development of chick axial mesoderm: specification of prechordal mesoderm by anterior endoderm-derived TGF beta family signalling. Development, 127, 2795-2809.
1999 Jones, C., Broadbent, J., Thomas, P. Q., Smith, J. C., & Beddington, R. S. (1999). An anterior signalling centre in Xenopus revealed by the homeobox gene XHex. Current Biology, 9(17), 946-S1.
1999 Farlie, P. G., Kerr, R., Thomas, P., Symes, T., Minichiello, J., Hearn, C. J., & Newgreen, D. (1999). A Paraxial Exclusion Zone Creates Patterned Cranial Neural Crest Cell Outgrowth Adjacent to Rhombomeres 3 and 5. Developmental Biology, 213(1), 70-84.
1999 Dattani, M. T., Martinez-Barbera, J. P., Thomas, P. Q., Brickman, J. M., Gupta, R., Wales, J. K. H., . . . Robinson, I. C. A. F. (1999). HESX1: a novel gene implicated in a familial form of septo-optic dysplasia. Acta Paediatrica, 88(s433), 49-54.
1998 Dattani, M. T., Martinez-Barbera, J. -P., Thomas, P. Q., Brickman, J. M., Gupta, R., Mårtensson, I. -L., . . . Robinson, I. C. (1998). Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics, 19(2), 125-133.
1998 Gupta, R. (1998). Isolation of developmentally regulated genes by differential display screening of cDNA libraries. Nucleic Acids Research, 26(19), 4538-4539.
1998 Thomas, P. Q., Brown, A., & Beddington, R. S. P. (1998). Hex: a homeobox gene revealing peri-implantation asymmetry in the mouse embryo and an early transient marker of endothelial cell precursors. Development, 125, 85-94.
1996 Thomas, P., & Beddington, R. (1996). Anterior primitive endoderm may be responsible for patterning the anterior neural plate in the mouse embryo. Current Biology, 6(11), 1487-1496.
1995 Thomas, P., Johnson, B., Rathjen, J., & Rathjen, P. (1995). Sequence, genomic organization and expression of the novel homeobox gene Hesx1. Journal of Biological Chemistry, 270(8), 3869-3875.
DOI Scopus103 WoS94 Europe PMC46
1994 Moretti, P., Simmons, P., Thomas, P., Haylock, D., Rathjen, P., Vadas, M., & D'Andrea, R. (1994). Identification of homeobox genes expressed in human haemopoietic progenitor cells. Gene, 144(2), 213-219.
1993 Webb, G. C., Thomas, P. Q., Ford, J. H., & Rathjen, P. D. (1993). Hesx1, a Homeobox Gene Expressed by Murine Embryonic Stem Cells, Maps to Mouse Chromosome 14, Bands A3-B. Genomics, 18(2), 464-466.
1992 Thomas, P. Q., & Rathjen, P. D. (1992). HES-1, a novel homeobox gene expressed by murine embryonic stem cells, identifies a new class of homeobox genes. Nucleic Acids Research, 20(21), 5840.

Book Chapters

Conference Papers

Conference Items

Year Citation
2013 Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). MUTATIONS IN DEPDC5: A MAJOR CAUSE OF FAMILIAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Montreal, CANADA: WILEY-BLACKWELL.

Current Higher Degree by Research Supervision (University of Adelaide)

Date Role Research Topic Program Degree Type Student Load Student Name
2018 Co-Supervisor Cytokine receptor like factor 2 rearrangements (CRLF2r) are high risk in Down Syndrome Acute Lymphoblastic Leukaemia (DS ALL). This project focuses on finding a combination therapy using small molecule inhibitors to decrease the serious toxicities DS patients experience from chemotherapy. Doctor of Philosophy Doctorate Full Time Miss Elyse Chenae Page
2017 Co-Supervisor bHLH PAS and HD protein interactions in neuronal development and pathology Doctor of Philosophy Doctorate Full Time Mr Joseph James Rossi
2017 Principal Supervisor Population-Level Genetic Engineering of Mus musculus Using a CRISPR-Cas9 Based Gene Drive Doctor of Philosophy Doctorate Full Time Mr Chandran Pfitzner
2016 Co-Supervisor Induced Neural Stem Cells from a Human Neural Crest-derived Stem/Progenitor Cell Population Doctor of Philosophy Doctorate Full Time Miss Maria Roumenova Gancheva
2015 Principal Supervisor Functional Analysis of Novel Epilepsy Genes Doctor of Philosophy Doctorate Full Time Ms Ruby Emily Dawson
2015 Principal Supervisor Genetically modified mouse models and applications for the investigation of episodic disease Doctor of Philosophy Doctorate Full Time Miss Louise Jane Robertson
2014 Co-Supervisor Function and Mechanism of The Single Minded 2 Gene Doctor of Philosophy Doctorate Full Time Emily Lyn Button
2014 Principal Supervisor The role of DEPDCS in Familial Focal Epilepsy with varying Foci (FFEVF) Doctor of Philosophy Doctorate Full Time Ella Paulina Thomson

Past Higher Degree by Research Supervision (University of Adelaide)

Date Role Research Topic Program Degree Type Student Load Student Name
2013 - 2018 Co-Supervisor Investigating the Function of Single-pass Leucine-Rich Repeat Transmembrane Proteins in Cell Signalling and Early Neural Development Master of Philosophy Master Full Time Shaun Murray Gaskin
2013 - 2017 Principal Supervisor Disruption of Cell-Cell Adhesion Codes Underlies The unique X-Linked Inheritance Pattern of Protocadherin 19 Girls Clustering Epilepsy Doctor of Philosophy Doctorate Full Time Daniel Tyler Pederick
2012 - 2017 Co-Supervisor Neurobiology of PCDHI9-Female Epilepsy Doctor of Philosophy Doctorate Full Time Dr Claire Homan
2012 - 2014 Principal Supervisor Functional analysis of SOX3 binding at the Dbx1 locus Master of Philosophy under a Jointly-awarded Degree Agreement with Master Full Time Mr Pengcheng Li
2011 - 2017 Principal Supervisor Development and Applications of CRISPR/Cas9 Genome Editing Technology Doctor of Philosophy Doctorate Full Time Dr Fatwa Adikusuma
2010 - 2015 Co-Supervisor Evolution of Mammalian Sex Chromosomes and Sex Determination Genes: Insights from Monotremes Doctor of Philosophy Doctorate Full Time Ms Deborah Fernanda Toledo-Flores
2008 - 2011 Co-Supervisor Identification and Characterisation of Novel Transcripts Involved in the Proliferation, Differentiation and Development Networks of the Mouse Cerebral Cortex Doctor of Philosophy Doctorate Full Time Mr King Hwa Ling
2008 - 2014 Principal Supervisor Expression and functional analysis of SOX3 in murine neurogenesis Doctor of Philosophy Doctorate Full Time Mr Nicholas Alan Rogers
2007 - 2011 Principal Supervisor Sox3 Dosage Regulation is Important for Roof Plate Specification during Central Nervous System Development Doctor of Philosophy Doctorate Full Time Mrs Kristie Rogers
2006 - 2011 Principal Supervisor Genetic Control of Hypothalamo-Pituitary Axis Development and Function in Mice Doctor of Philosophy Doctorate Full Time Ms Eva Szarek

Committee Memberships

Date Role Committee Institution Country
2010 - ongoing Member Laboratory Animal Services Advisory Committee University of Adelaide Australia
2008 - 2017 Member School of Molecular & Biomedical Science Research Committee (2008-) University of Adelaide Australia
2008 - 2013 Board Member University of Adelaide Stem Cell Centre Univeristy of Adelaide Australia


Date Role Membership Country
2012 - 2016 Member Hunter Cell Biology meeting Australia
2007 - ongoing Member Lorne Genome Conference Scientific Advisory Group Australia
1999 - ongoing Member Australian Society of Medical Research Australia
1998 - ongoing Member Australian and New Zealand Society for Cell and Developmental Biology Inc Australia


Date Institution Department Organisation Type Country
2011 - ongoing EMBL Australia Council University of Adelaide representative School or college Australia
North Terrace
South Australian Health & Medical Research In, floor 1
Org Unit