Paul Thomas

Professor Paul Thomas

Professor

School of Pharmacy and Biomedical Science

College of Health

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 - ongoing Director, SA Genome Editing University of Adelaide, Adelaide
2014 - 2017 Head of Discipline of Biochemistry University of Adelaide, Adelaide
2013 - ongoing Professor (Level E) University of Adelaide, Adelaide
2013 - ongoing 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 B.sc. (Hons)
1990 University of Adelaide, Adelaide Australia B.Sc

Year Citation
2025 Birand, A., Gierus, L., Prowse, T. A. A., Cassey, P., & Thomas, P. Q. (2025). Maximising Eradication Potential of Rat Gene Drives Using a Two-Target Homing Rescue Strategy: Spatial Modelling of Empirical Data.. Molecular ecology, 34(10), e17777.
DOI
2025 Arkell, R. M., Wolvetang, E. J., Gulati, T., Hennessy, J. E., Hill, A. P., Jardé, T., . . . Dobbie, M. S. (2025). Complementarity and integration of animal and in vitro non-animal pre-clinical model systems– an Australian perspective. Mammalian Genome, 36(2), 482-487.
DOI
2025 Geiger, A. B., Kennedy, J. G., Staker, L. G., Wensel, T. G., Casson, R. J., & Thomas, P. Q. (2025). Shining light on CRISPR/Cas9 therapeutics for inherited retinal diseases. Progress in Retinal and Eye Research, 107, 101376-1-101376-18.
DOI Scopus4 WoS4 Europe PMC2
2025 Birand, A., Prowse, T. A. A., Cassey, P., & Thomas, P. Q. (2025). Evaluating the potential of a new murine gene drive for pre-emptive mouse plague control. Neobiota, 103, 129-147.
DOI
2025 Frank, M. S. B., Bennett, M. K., Ha, T. T., Moore, L., Arts, P., Byrne, A. B., . . . Scott, H. S. (2025). Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. Human Genomics, 19(1), 13 pages.
DOI
2025 Arthurs, A. L., Dietrich, B., Knöfler, M., Lushington, C. J., Thomas, P. Q., Adikusuma, F., . . . Roberts, C. T. (2025). Genetically edited human placental organoids cast new light on the role of ACE2. Cell Death and Disease, 16(1), 78-1-78-12.
DOI Scopus2 Europe PMC2
2025 Chey, Y. C. J., Gierus, L., Lushington, C., Arudkumar, J. C., B. Geiger, A., Staker, L. G., . . . Thomas, P. Q. (2025). Optimal SpCas9- and SaCas9-mediated gene editing by enhancing gRNA transcript levels through scaffold poly-T tract reduction. BMC Genomics, 26(1), 138-1-138-12.
DOI Scopus5 WoS5 Europe PMC5
2025 Winstanley, Y. E., Rose, R. D., Sobinoff, A. P., Wu, L. L., Adhikari, D., Zhang, Q. -H., . . . Robker, R. L. (2025). Telomere length in offspring is determined by mitochondrial-nuclear communication at fertilization. Nature Communications, 16(1), 2527-1-2527-20.
DOI Scopus2 WoS2 Europe PMC1
2024 Gancheva, M. R., Kremer, K., Breen, J., Arthur, A., Hamilton-Bruce, A., Thomas, P., . . . Koblar, S. (2024). Effect of Octamer-Binding Transcription Factor 4 Overexpression on the Neural Induction of Human Dental Pulp Stem Cells. Stem Cell Reviews and Reports, 20(3), 797-815.
DOI Scopus5 WoS3 Europe PMC3
2024 Bhattacharjee, R., Jolly, L. A., Corbett, M. A., Wee, I. C., Rao, S. R., Gardner, A. E., . . . Gecz, J. (2024). Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature Communications, 15(1), 1210-1-1210-5.
DOI Scopus11 WoS10 Europe PMC8
2024 de Nys, R., Gardner, A. E., van Eyk, C., Tasheva, S., Thomas, P. Q., Bhattacharjee, R., . . . Gecz, J. (2024). Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway. Molecular Psychiatry, 29(7), 2199-2210.
DOI Scopus4 WoS4 Europe PMC4
2024 Mincheva-Tasheva, S., Pfitzner, C., Kumar, R., Kurtsdotter, I., Scherer, M., Ritchie, T., . . . Thomas, P. Q. (2024). Mapping combinatorial expression of non-clustered protocadherins in the developing brain identifies novel PCDH19-mediated cell adhesion properties. Open Biology, 14(4), 230383-1-230383-13.
DOI Europe PMC1
2024 Bunting, M. D., Godahewa, G. I., McPherson, N. O., Robertson, L. J., Gierus, L., Piltz, S. G., . . . Thomas, P. Q. (2024). Investigating the potential of X chromosome shredding for mouse genetic biocontrol.. Sci Rep, 14(1), 13466.
DOI Europe PMC1
2024 Teboul, L., Amos-Landgraf, J., Benavides, F. J., Birling, M. -C., Brown, S. D. M., Bryda, E., . . . Pavlovic, G. (2024). Improving laboratory animal genetic reporting: LAG-R guidelines. NATURE COMMUNICATIONS, 15(1), 8 pages.
DOI Scopus11 WoS11 Europe PMC10
2024 Chey, Y. C. J., Corbett, M. A., Arudkumar, J., Piltz, S. G., Thomas, P. Q., & Adikusuma, F. (2024). CRISPR-mediated megabase-scale transgene de-duplication to generate a functional single-copy full-length humanized DMD mouse model. BMC Biology, 22(1), 214-1-214-15.
DOI Scopus4 WoS2 Europe PMC2
2024 Piaggio, A. J., Gierus, L., Taylor, D. R., Holmes, N. D., Will, D. J., Gemmell, N. J., & Thomas, P. Q. (2024). Building an eDNA surveillance toolkit for invasive rodents on islands: can we detect wild-type and gene drive Mus musculus?. BMC Biol, 22(1), 261.
DOI Scopus2 WoS2
2023 Kazenwadel, J., Venugopal, P., Oszmiana, A., Toubia, J., Arriola-Martinez, L., Panara, V., . . . Harvey, N. L. (2023). A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature. Nature, 614(7947), 343-348.
DOI Scopus30 WoS29 Europe PMC29
2023 Hassall, M. M., Javadiyan, S., Klebe, S., Awadalla, M. S., Sharma, S., Qassim, A., . . . Siggs, O. M. (2023). Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse. Scientific Reports, 13(1), 11017-1-11017-7.
DOI Scopus3 WoS3 Europe PMC2
2023 Page, E. C., Heatley, S. L., Rehn, J., Thomas, P. Q., Yeung, D. T., & White, D. L. (2023). Gain of chromosome 21 increases the propensity for P2RY8: :CRLF2 acute lymphoblastic leukemia via increased HMGN1 expression. Frontiers in Oncology, 13, 1177871.
DOI Scopus8 WoS9 Europe PMC8
2023 Gierus, L., Birand, A., Bunting, M. D., Godahewa, G. I., Piltz, S. G., Oh, K. P., . . . Thomas, P. Q. (2023). Leveraging a natural murine meiotic drive to suppress invasive populations (vol 119, e2213308119, 2022). PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 120(2), 2 pages.
DOI
2023 Chey, Y. C. J., Arudkumar, J., Aartsma‐Rus, A., Adikusuma, F., & Thomas, P. Q. (2023). CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies. WIREs Mechanisms of Disease, 15(1), e1580-1-e1580-26.
DOI Scopus15 WoS11 Europe PMC18
2022 Gierus, L., Birand, A., Bunting, M. D., Godahewa, G. I., Piltz, S. G., Oh, K. P., . . . Thomas, P. Q. (2022). Leveraging a natural murine meiotic drive to suppress invasive populations. Proceedings of the National Academy of Sciences of USA, 119(46), 1-11.
DOI Scopus25 WoS22 Europe PMC17
2022 Burbano, L. E., Li, M., Jancovski, N., Jafar-Nejad, P., Richards, K., Sedo, A., . . . Petrou, S. (2022). Antisense oligonucleotide therapy for KCNT1 encephalopathy. JCI insight, 7(23), 1-20.
DOI Scopus39 WoS38 Europe PMC48
2022 Bunting, M. D., Pfitzner, C., Gierus, L., White, M., Piltz, S., & Thomas, P. Q. (2022). Generation of Gene Drive Mice for Invasive Pest Population Suppression.. Methods in molecular biology (Clifton, N.J.), 2495, 203-230.
DOI Scopus6 Europe PMC5
2022 Birand, A., Cassey, P., Ross, J. V., Thomas, P. Q., & Prowse, T. A. A. (2022). Scalability of genetic biocontrols for eradicating invasive alien mammals. NeoBiota, 74, 93-103.
DOI Scopus9 WoS8
2022 Byrne, A. B., Brouillard, P., Sutton, D. L., Kazenwadel, J., Montazaribarforoushi, S., Secker, G. A., . . . Harvey, N. L. (2022). Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science Translational Medicine, 14(634), eabm4869-1-eabm4869-15.
DOI Scopus38 WoS29 Europe PMC31
2022 Page, E. C., Heatley, S. L., Eadie, L. N., McClure, B. J., de Bock, C. E., Omari, S., . . . White, D. L. (2022). HMGN1 plays a significant role in CRLF2 driven Down Syndrome leukemia and provides a potential therapeutic target in this high-risk cohort. Oncogene, 41(6), 797-808.
DOI Scopus18 WoS17 Europe PMC15
2022 Birand, A., Cassey, P., Ross, J. V., Russell, J. C., Thomas, P., & Prowse, T. A. A. (2022). Gene drives for vertebrate pest control: realistic spatial modelling of eradication probabilities and times for island mouse populations. Molecular ecology, 31(6), 1907-1923.
DOI Scopus22 WoS20 Europe PMC24
2022 Bersten, D. C., Sullivan, A. E., McDougal, D., Breen, J., Fitzsimmons, R. L., Muscat, G. E. O., . . . Whitelaw, M. L. (2022). Core and Flanking bHLH-PAS:DNA interactions mediate specificity and drive obesity.
DOI Europe PMC1
2021 Adikusuma, F., Lushington, C., Arudkumar, J., Godahewa, G. I., Chey, Y. C. J., Gierus, L., . . . Thomas, P. Q. (2021). Optimized nickase- and nuclease-based prime editing in human and mouse cells. Nucleic Acids Research, 49(18), 10785-10795.
DOI Scopus66 WoS62 Europe PMC58
2021 Thomson, E., Dawson, R., H'ng, C. H., Adikusuma, F., Piltz, S., & Thomas, P. Q. (2021). The Nestin neural enhancer is essential for normal levels of endogenous Nestin in neuroprogenitors but is not required for embryo development. PLoS One, 16(11), e0258538-1-e0258538-16.
DOI Scopus2 WoS4 Europe PMC2
2021 Kirby, E. N., Shue, B., Thomas, P. Q., & Beard, M. R. (2021). CRISPR Tackles Emerging Viral Pathogens. Viruses, 13(11), 2157-1-2157-23.
DOI Scopus9 WoS7 Europe PMC10
2021 Oh, K. P., Shiels, A. B., Shiels, L., Blondel, D. V., Campbell, K. J., Saah, J. R., . . . Piaggio, A. J. (2021). Population genomics of invasive rodents on islands: Genetic consequences of colonization and prospects for localized synthetic gene drive. Evolutionary Applications, 14(5), 1421-1435.
DOI Scopus20 WoS19 Europe PMC16
2021 Gurumurthy, C. B., O’Brien, A. R., Quadros, R. M., Adams, J., Alcaide, P., Ayabe, S., . . . Yoshiki, A. (2021). Response to correspondence on “Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: a multi-center evaluation”. Genome Biology, 22(1), 99.
DOI Scopus2 WoS3 Europe PMC5
2021 Suzuki, M., Suzuki, N., Wang, T., Kobayashi, H., Vrbanac, L., Ng, J. Q., . . . Woods, S. L. (2021). The BMP antagonist Gremlin1 contributes to the development of cortical excitatory neurons, motor balance and fear responses. Development, 148(14), dev195883-1-dev195883-15.
DOI Scopus8 WoS8 Europe PMC8
2021 Tasheva, S., Nieto Guil, A. F., Homan, C. C., Gecz, J., & Thomas, P. Q. (2021). Disrupted excitatory synaptic contacts and altered neuronal network activity underpins the neurological phenotype in PCDH19-clustering epilepsy (PCDH19-CE). Molecular Neurobiology, 58(5), 2005-2018.
DOI Scopus21 WoS20 Europe PMC18
2021 Kaur, H., Care, A. S., Wilson, R. L., Piltz, S. G., Thomas, P. Q., Muhlhausler, B. S., . . . Gatford, K. L. (2021). A sexually dimorphic murine model of IUGR induced by embryo transfer. Reproduction, 161(2), 135-144.
DOI Scopus3 WoS3 Europe PMC3
2020 Gao, Y., Wilson, G. R., Stephenson, S. E. M., Oulad-Abdelghani, M., Charlet-Berguerand, N., Bozaoglu, K., . . . Lockhart, P. J. (2020). Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.. Molecular Brain, 13(1), 52.
DOI Scopus11 WoS9 Europe PMC9
2020 McAninch, D., Mäkelä, J. -A., La, H. M., Hughes, J. N., Lovell-Badge, R., Hobbs, R. M., & Thomas, P. Q. (2020). SOX3 promotes generation of committed spermatogonia in postnatal mouse testes. Scientific Reports, 10(1), 6751-1-6751-13.
DOI Scopus28 WoS26 Europe PMC20
2020 Teem, J. L., Alphey, L., Descamps, S., Edgington, M. P., Edwards, O., Gemmell, N., . . . Roberts, A. (2020). Genetic Biocontrol for Invasive Species. Frontiers in Bioengineering and Biotechnology, 8, 452.
DOI Scopus101 Europe PMC51
2020 Gecz, J., & Thomas, P. Q. (2020). Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics. Current Opinion in Genetics and Development, 65, 169-175.
DOI Scopus26 WoS23 Europe PMC23
2020 Pfitzner, C., White, M. A., Piltz, S. G., Scherer, M., Adikusuma, F., Hughes, J. N., & Thomas, P. Q. (2020). Progress Toward Zygotic and Germline Gene Drives in Mice.. CRISPR J, 3(5), 388-397.
DOI Scopus25 WoS21 Europe PMC28
2020 Pfitzner, C., Hughes, J., White, M., Scherer, M., Piltz, S., & Thomas, P. (2020). Development of zygotic and germline gene drives in mice.
DOI
2020 McAninch, D., Thomson, E. P., & Thomas, P. Q. (2020). Genome-wide DNA-binding profile of SRY-box transcription factor 3 (SOX3) in mouse testes. Reproduction, Fertility and Development, 32(16), 1260-1270.
DOI Scopus3 WoS3 Europe PMC2
2020 Oishi, S., Zalucki, O., Vega, M. S., Harkins, D., Harvey, T. J., Kasherman, M., . . . Piper, M. (2020). Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1. Genes, Brain and Behavior, 19(4), 1-15.
DOI Scopus19 WoS17 Europe PMC21
2020 Bagheri-Fam, S., Chen, H., Wilson, S., Ayers, K., Hughes, J., Sloan-Bena, F., . . . Wilhelm, D. (2020). The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice. PloS one, 15(1), 1-23.
DOI Scopus14 Europe PMC13
2020 Dawson, R., Guil, A. N., Robertson, L., Piltz, S., Hughes, J., & Thomas, P. (2020). Functional screening of GATOR1 complex variants reveals a role for mTORC1 deregulation in FCD and focal epilepsy. Neurobiology of Disease, 134, 104640.
DOI Scopus39 WoS35 Europe PMC28
2019 Sudweeks, J., Hollingsworth, B., Blondel, D. V., Campbell, K. J., Dhole, S., Eisemann, J. D., . . . Lloyd, A. L. (2019). Locally Fixed Alleles: A method to localize gene drive to island populations.. Scientific reports, 9(1), 15821.
DOI Scopus48 WoS47 Europe PMC43
2019 Godwin, J., Serr, M., Barnhill-Dilling, S. K., Blondel, D. V., Brown, P. R., Campbell, K., . . . Thomas, P. (2019). Rodent gene drives for conservation: Opportunities and data needs. Proceedings of the Royal Society B: Biological Sciences, 286(1914), 20191606.
DOI Scopus43 WoS34 Europe PMC21
2019 Prowse, T. A., Adikusuma, F., Cassey, P., Thomas, P., & Ross, J. V. (2019). A Y-chromosome shredding gene drive for controlling pest vertebrate populations. eLife, 8, e41873-1-e41873-19.
DOI Scopus35 WoS32 Europe PMC29
2019 Robertson, L., Featherby, T., Howell, S., Hughes, J., & Thomas, P. (2019). Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. Genes, Brain and Behavior, 18(5), e12566-1-e12566-8.
DOI Scopus6 WoS6 Europe PMC5
2019 Gurumurthy, C. B., O'Brien, A. R., Quadros, R. M., Adams, J., Alcaide, P., Ayabe, S., . . . Yoshiki, A. (2019). Reproducibility of CRISPR-Cas9 methods for generation of conditional mouse alleles: A multi-center evaluation. Genome Biology, 20(1), 14 pages.
DOI Scopus64 WoS54 Europe PMC63
2018 Robertson, L., Pederick, D., Piltz, S., White, M., Nieto, A., Ahladas, M., . . . Thomas, P. Q. (2018). Expanding the RNA-Guided Endonuclease Toolkit for Mouse Genome Editing.. The CRISPR journal, 1(6), 431-439.
DOI WoS5 Europe PMC4
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 Scopus98 WoS93 Europe PMC95
2018 Masedunskas, A., Appaduray, M. A., Lucas, C. A., Cagigas, M. L., Heydecker, M., Holliday, M., . . . Hardeman, E. C. (2018). Parallel assembly of actin and tropomyosin, but not myosin II, during de novo actin filament formation in live mice. Journal of Cell Science, 131(6), 212654-1-212654-8.
DOI Scopus15 WoS15 Europe PMC16
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.
DOI Scopus44 WoS38 Europe PMC38
2018 Page, E. C., Heatley, S. L., Yeung, D. T., Thomas, P. Q., & White, D. L. (2018). Precision medicine approaches may be the future for CRLF2 rearranged Down Syndrome Acute Lymphoblastic Leukaemia patients. Cancer Letters, 432, 69-74.
DOI Scopus6 WoS6 Europe PMC5
2018 Adikusuma, F., Piltz, S., Corbett, M. A., Turvey, M., McColl, S. R., Helbig, K. J., . . . Thomas, P. Q. (2018). Large deletions induced by Cas9 cleavage. Nature, 560(7717), E8-E9.
DOI Scopus279 WoS274 Europe PMC277
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.
DOI Scopus18 WoS19 Europe PMC16
2018 Prowse, T. A. A., Cassey, P., Ross, J. V., Pfitzner, C., Wittmann, T., & Thomas, P. (2018). Correction to: Dodging silver bullets: Good CRISPR gene-drive design is critical for eradicating exotic vertebrates (Proceedings of the Royal Society B: Biological Sciences (2017 ) 284 (20170799) DOI: 10.1098/rspb.2017.0799). Proceedings of the Royal Society B Biological Sciences, 285(1888), 2 pages.
DOI Scopus4 WoS4 Europe PMC2
2017 Pederick, D., Richards, K., Piltz, S., Mandelstam, S., Dale, R., Scheffer, I., . . . Thomas, P. (2017). Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy. biorxiv.
DOI
2017 Dawar, S., Lim, Y., Puccini, J., White, M., Thomas, P., Bouchier-Hayes, L., . . . Kumar, S. (2017). Caspase-2-mediated cell death is required for deleting aneuploid cells. Oncogene, 36(19), 2704-2714.
DOI Scopus55 WoS52 Europe PMC50
2017 Pham, D., Tan, C., Homan, C., Kolc, K. L., 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 Scopus27 WoS25 Europe PMC25
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 Scopus20 WoS19 Europe PMC20
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 Scopus72 WoS73 Europe PMC70
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 Scopus97 WoS95 Europe PMC84
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 Scopus93 WoS87 Europe PMC70
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 Scopus198 WoS185 Europe PMC177
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 Scopus51 WoS47 Europe PMC45
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 Scopus41 WoS39 Europe PMC62
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 Scopus15 WoS12 Europe PMC11
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 Scopus4 WoS3 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 Scopus30 WoS24 Europe PMC22
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 Scopus52 WoS49 Europe PMC48
2016 Ricos, M. G., Hodgson, B. L., Pippucci, T., Saidin, A., Ong, Y. S., Heron, S. E., . . . Dibbens, L. M. (2016). Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Annals of Neurology, 79(1), 120-131.
DOI Scopus200 WoS181 Europe PMC159
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 Scopus40 WoS41 Europe PMC38
2015 Vidovic, D., Harris, L., Harvey, T. J., Evelyn Heng, Y. H., Smith, A. G., Osinski, J., . . . Piper, M. (2015). Expansion of the lateral ventricles and ependymal deficits underlie the hydrocephalus evident in mice lacking the transcription factor NFIX. Brain Research, 1616, 71-87.
DOI Scopus19 WoS18 Europe PMC17
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 Scopus72 WoS65 Europe PMC58
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 Scopus12 WoS10 Europe PMC7
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 Scopus48 WoS39 Europe PMC38
2014 Alatzoglou, K., Azriyanti, A., Rogers, N., Ryan, F., Curry, N., Noakes, C., . . . Dattani, M. (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.
DOI Scopus35 WoS27 Europe PMC22
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 Scopus12 WoS12 Europe PMC11
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 Scopus10 WoS9 Europe PMC9
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 Scopus25 WoS20 Europe PMC22
2013 Wilhelm, D., Yang, J., & Thomas, P. (2013). Mammalian sex determination and gonad development. Current Topics in Developmental Biology, 106, 89-121.
DOI Scopus41 Europe PMC26
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.
DOI Scopus36 WoS32 Europe PMC31
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 Scopus327 WoS287 Europe PMC253
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 Scopus20 WoS20 Europe PMC17
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 Scopus73 WoS73 Europe PMC64
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.
DOI Scopus72 WoS59 Europe PMC50
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 Scopus96 WoS93 Europe PMC91
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 Scopus23 WoS29 Europe PMC18
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 Scopus246 WoS211 Europe PMC192
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 Scopus54 WoS47 Europe PMC47
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 Scopus251 WoS197 Europe PMC173
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 Scopus35 WoS34 Europe PMC35
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.
DOI Scopus56 WoS42 Europe PMC40
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.
2010 Schwartz, J., & Thomas, P. (2010). Editorial. Molecular and Cellular Endocrinology, 323(1), 1-3.
DOI
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.
DOI Scopus352 WoS312 Europe PMC310
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 Scopus42 WoS39 Europe PMC42
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 Scopus390 WoS350 Europe PMC317
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.
DOI Scopus19 Europe PMC15
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 Scopus38 WoS36 Europe PMC30
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.
DOI Scopus10 WoS9 Europe PMC9
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 Scopus224 WoS215 Europe PMC208
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 Scopus18 WoS16 Europe PMC17
2007 Wagner, J., & Thomas, P. (2007). Genetic determinants of mammalian pituitary morphogenesis. Frontiers in Bioscience, 12, 125-134.
Scopus10 WoS8 Europe PMC7
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 Scopus27 WoS26 Europe PMC24
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 Scopus62 WoS51 Europe PMC48
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.
DOI Scopus88 WoS70 Europe PMC57
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.
DOI Scopus13 WoS13 Europe PMC13
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.
DOI Scopus228 WoS183 Europe PMC161
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.
DOI Scopus69 WoS65 Europe PMC53
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.
DOI WoS24 Europe PMC24
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.
DOI Scopus97 WoS78 Europe PMC63
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.
DOI Scopus110 WoS99 Europe PMC87
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.
DOI Scopus259 WoS229 Europe PMC210
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 Scopus120 WoS112 Europe PMC105
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 Scopus195 WoS174 Europe PMC156
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.
DOI Scopus261 WoS231 Europe PMC201
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.
DOI Scopus71 WoS56 Europe PMC50
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.
DOI Scopus25 WoS22 Europe PMC20
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.
Scopus53 WoS41 Europe PMC38
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.
DOI Scopus271 WoS237 Europe PMC235
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.
Scopus290 WoS209 Europe PMC167
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(11), 2433-2445.
DOI Scopus414 WoS372 Europe PMC333
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 TGFβ family signalling. Development, 127(13), 2795-2809.
DOI Scopus41 WoS37 Europe PMC34
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.
DOI
2000 Agarwal, G., Bhatia, V., Cook, S., & Thomas, P. Q. (2000). Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion. Journal of Clinical Endocrinology and Metabolism, 85(12), 4556-4561.
DOI Scopus114 WoS82 Europe PMC63
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.
DOI Scopus81 WoS75 Europe PMC65
1999 Jones, C. M., Broadbent, J., Thomas, P. Q., Smith, J. C., & Beddington, R. S. P. (1999). An anterior signalling centre in Xenopus revealed by the homeobox gene XHex. Current Biology, 9(17), 946-954.
DOI Scopus79 WoS79 Europe PMC67
1998 Gupta, R., Thomas, P., Beddington, R. S. P., & Rigby, P. W. J. (1998). Isolation of developmentally regulated genes by differential display screening of cDNA libraries. Nucleic Acids Research, 26(19), 4538-4539.
DOI Scopus11 WoS10 Europe PMC8
1998 Dattani, M. T., Martinez-Barbera, J. P., Thomas, P. Q., Brickman, J. M., Gupta, R., Mårtensson, I. L., . . . Robinson, I. C. A. F. (1998). Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics, 19(2), 125-133.
DOI Scopus681 WoS528 Europe PMC423
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(1), 85-94.
DOI Scopus458 WoS435 Europe PMC380
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.
DOI Scopus494 WoS471 Europe PMC397
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 Scopus113 WoS96 Europe PMC70
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.
DOI Scopus53 WoS51 Europe PMC40
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.
DOI Scopus15 WoS15 Europe PMC13
1993 Twigg, L., Moon, G., Randall, S., Thomas, P., & Hughes, J. (1993). Consumer views of family planning services in Portsmouth and South East Hampshire (Br J Family Planning)(1993)19(151-157)). British Journal of Family Planning, 19(2), 197.
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.
DOI Scopus17 WoS17 Europe PMC14
- Arudkumar, J., Chey, Y. C. J., Piltz, S. G., Thomas, P. Q., & Adikusuma, F. (2024). CRISPR-mediated generation and comprehensive phenotyping of Duchenne Muscular Dystrophy mouse models. BMC Methods, 1(1).
DOI

Year Citation
2018 Thomson, E. P., Dawson, R. E., Hughes, J. N., & Thomas, P. Q. (2018). CRISPR Genome Editing in Mice. In Genome Editing and Engineering: From TALENs, ZFNs and CRISPRs to Molecular Surgery (pp. 165-180). Cambridge University Press.
DOI
2013 Hughes, J., & Thomas, P. (2013). Molecular pathology of polyalanine expansion disorders: New perspectives from mouse models. In Tandem repeats in genes, proteins, and disease : methods and protocols (Vol. 1017, 1 ed., pp. 135-151). United States: Springer.
DOI Scopus12 Europe PMC12
2002 Thomas, P. (2002). Septooptic Dysplasia. In NORD guide to rare disorders (pp. 188-189). Baltimore, MD, USA: Lippincott Williams & Wilkins.

Year Citation
2021 Dharmage, S., Dinh, B., Walters, H., Lowe, A., Thompson, B., Thomas, P., . . . Lodge, C. (2021). Lifetime spirometric patterns of obstruction and restriction: risk factors and outcomes. In EUROPEAN RESPIRATORY JOURNAL Vol. 58 (pp. 2 pages). GREECE, Thessaloniki: EUROPEAN RESPIRATORY SOC JOURNALS LTD.
DOI
2021 Page, E. C., Heatley, S. L., Rehn, J., Yeung, D. T., Thomas, P. Q., & White, D. L. (2021). <i>HMGN1</i> expression Predisposes Down Syndrome Patients to Develop <i>P2RY8-CRLF2</i> acute Lymphoblastic Leukemia. In BLOOD Vol. 138 (pp. 4 pages). GA, Atlanta: ELSEVIER.
DOI
2014 Ling, K., Lee, H., Brautigan, P., Moore, S., Fraser, R., Cheah, P., . . . Scott, H. (2014). Deciphering the secret role of Sox4 gene locus during mouse cerebral corticogenesis. In Journal of Neurochemistry Vol. 130 (pp. 8). Kaohsiung, Taiwan: Wiley.
2006 Wong, J., Ross, S., Raetzman, L., Dunwoodie, S., Camper, S., & Thomas, P. (2006). Induction and patterning of the hypothalamus and pituitary: transcriptional control of signaling pathways. In ComBio 2006: combined conference abstracts, Brisbane Convention Centre, Brisbane, Queensland, 24 September to 28 September 2006. Brisbane, Qld, Australia: Australian Society for Biochemistry and Molecular Biology.
2002 Ross, S., Lepore, D., Cook, S., Aloe, J., & Thomas, P. (2002). Generating pituitary cells from embryonic stem cells: a route to pituitary cell therapy?. In Society for Reproductive Biology. Scientific Meeting 2002. Adelaide, South Australia.
2000 Dattani, M. T., Martinez-Barbera, J. P., Thomas, P. Q., Brickman, J. M., Gupta, R., Wales, J. K. H., . . . Robinson, I. C. A. F. (2000). Molecular genetics of septo-optic dysplasia. In Hormone Research Vol. 53 (pp. 26-33). VERONA, ITALY: KARGER.
DOI Scopus39 WoS17 Europe PMC8
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. In Acta Paediatrica International Journal of Paediatrics Supplement Vol. 88 (pp. 49-54). NICE, FRANCE: SCANDINAVIAN UNIVERSITY PRESS.
DOI Scopus35 WoS20 Europe PMC10
1997 Thomas, P., Brickman, J. M., Pöpperl, H., Krumlauf, R., & Beddington, R. S. P. (1997). Axis duplication and anterior identity in the mouse embryo. In Cold Spring Harbor Symposia on Quantitative Biology Vol. 62 (pp. 115-125). United States: Cold Spring Harbor Laboratory.
DOI Scopus34 Europe PMC11
1994 DANDREA, R., MORETTI, P., SIMMONS, P., THOMAS, P., HAYLOCK, D., RATHGEN, P., & VADAS, M. (1994). IDENTIFICATION OF HOMEOBOX GENES EXPRESSED IN HUMAN HEMATOPOIETIC PROGENITOR CELLS. In JOURNAL OF CELLULAR BIOCHEMISTRY (pp. 10). WILEY-LISS.

Year Citation
2024 Gecz, J., Bhattacharjee, R., Palmer, E., Gardner, A., Carroll, R., Wee, I. C., . . . Kumar, R. (2024). Genetic, Molecular and Mouse Model Investigations of Neurodevelopmental Impact of Deleterious Variants of the TREX Transcription-mRNA Export Complex Subunits. Poster session presented at the meeting of Abstracts of the 57th European Society of Human Genetics Conference (ESHG 2024), as published in European Journal of Human Genetics. Berlin, Germany: Springer Nature.
DOI
2023 Vikkula, M., Babic, M., Brautigan, P., Haan, E., White, M., Piltz, S., . . . Montazaribarforoushi, S. (2023). A new Smad4 mouse model mimicking Myhre Syndrome?. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. AUSTRIA, Vienna: SPRINGERNATURE.
2020 Page, E., Heatley, S., Thomas, P., & White, D. (2020). Inducible Knockout of HMGN1 in an In Vivo xenograft Model Reduces Down Syndrome Leukemic Burden and Increases Survival Outcomes. Poster session presented at the meeting of 62nd ASH ANNUAL MEETING AND EXPOSITION.
2020 Page, E., Heatley, S., Thomas, P., & White, D. (2020). HMGN1 is necessary for Down Syndrome leukaemic cell proliferation and cooperates with CRLF2 for leukaemic transformation. Poster session presented at the meeting of The 59th ASMR National Scientific Conference.
2020 Bhattacharjee, R., White, M., Thomas, P., Gecz, J., & Sharma, R. (2020). Investigating the Role of THOC2/TREX Nuclear mRNA Export in Neurodevelopmental Disorders. Poster session presented at the meeting of 14th Florey Postgraduate Research Conference, 2020. Adelaide.
2019 Page, E. C., Heatley, S. L., Yeung, D. T., Thomas, P. Q., & White, D. L. (2019). A Novel Role for <i>HMGN1</i> in Down Syndrome Acute Lymphoblastic Leukemia. Poster session presented at the meeting of BLOOD. FL, Orlando: ELSEVIER.
DOI
2013 Dibbens, L. M., de Vries, B., Donatello, S., Heron, S. E., Hodgson, B. L., Chintawar, S., . . . Scheffer, I. E. (2013). MUTATIONS IN DEPDC5: A MAJOR CAUSE OF FAMILIAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Montreal, CANADA: WILEY-BLACKWELL.
2008 Tarpey, P., Dibbens, L. M., Hynes, K., Smith, R., Edkins, S., Teague, J., . . . Gecz, J. (2008). X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Poster session presented at the meeting of JOURNAL OF MEDICAL GENETICS. Univ York, York, ENGLAND: BMJ PUBLISHING GROUP.

Year Citation
2025 Geiger, A., Thomas, P., & Adikusuma, F. (2025). 2023326046, AGENT FOR TREATING OR PREVENTING A DOMINANTLY-INHERITED DISEASE. Australia.
2024 Geiger, A., Thomas, P., Adikusuma, F., & Staker, L. (2024). 2024902054, AGENT FOR TREATING OR PREVENTING A GENETIC DISEASE. Australia.

Year Citation
2024 Arudkumar, J., Chey, Y. C. J., Piltz, S. G., Thomas, P. Q., & Adikusuma, F. (2024). Generation and characterisation of mouse models of Duchenne Muscular Dystrophy (DMD).
DOI
2024 Chey, Y., Gierus, L., Lushington, C., Arudkumar, J., Geiger, A., Staker, L., . . . Adikusuma, F. (2024). Enhancing gRNA Transcript levels by Reducing the Scaffold Poly-T Tract for Optimal SpCas9- and SaCas9-mediated Gene Editing.
DOI
2024 Chey, Y., Corbett, M., Arudkumar, J., Piltz, S., Thomas, P., & Adikusuma, F. (2024). Megabase-Scale Transgene De-Duplication to Generate a Functional Single-Copy Full-Length Human DMD Transgenic Mouse Model.
DOI
2022 Gierus, L., Birand, A., Bunting, M., Godahewa, G., Piltz, S., Oh, K., . . . Thomas, P. (2022). Leveraging a natural murine meiotic drive to suppress invasive populations.
DOI
2021 Adikusuma, F., Lushington, C., Arudkumar, J., Godahewa, G., Chey, Y. C. J., Gierus, L., . . . Thomas, P. (2021). Optimized nickase- and nuclease-based prime editing in human and mouse cells.
DOI

Date Role Research Topic Program Degree Type Student Load Student Name
2025 Co-Supervisor Cutting-Edge CRISPR Therapies Targeting a Wide Range of DMD Mutations Doctor of Philosophy Doctorate Full Time Mr Sahal Sabilil Muttaqin
2023 Principal Supervisor Designing novel, mutant-specific Prime Editing therapeutic strategies towards treating autosomal dominant Retinitis Pigmentosa Doctor of Philosophy Doctorate Full Time Mr Lachlan Graham Staker
2023 Principal Supervisor Reincarnating the Retina: A Cutting-Edge Mutant Independent CRISPR Therapy for Genetic Eye Disease Doctor of Philosophy Doctorate Full Time Miss Jesse Georgina Kennedy
2021 Co-Supervisor Improving Disease Therapy with the Application of Prime Editing Doctor of Philosophy Doctorate Full Time Mr Caleb James Lushington
2017 Co-Supervisor bHLH PAS and HD protein interactions in neuronal development and pathology Doctor of Philosophy Doctorate Full Time Mr Joseph James Rossi

Date Role Research Topic Program Degree Type Student Load Student Name
2021 - 2025 Principal Supervisor Development of novel CRISPR/Cas9 therapies for genetic eye disease Doctor of Philosophy Doctorate Full Time Dr Ashleigh Geiger
2020 - 2024 Principal Supervisor Development of Strategies for Invasive Rodent Population Control Through Modification of Naturally-Occurring Meiotic Drive Systems Doctor of Philosophy Doctorate Full Time Mr Luke Gierus
2020 - 2024 Principal Supervisor Development of CRISPR Therapies Targeting DMD Exon 51 for Duchenne Muscular Dystrophy Doctor of Philosophy Doctorate Full Time Dr Yu Chinn Joshua Chey
2020 - 2024 Co-Supervisor A Mouse Model of Transcription and mRNA Export (TREX) Complex Scaffold Protein THOC2- Related Neurodevelopmental Disorder Doctor of Philosophy Doctorate Full Time Mr Rudrarup Bhattacharjee
2020 - 2025 Co-Supervisor Heritable Human Genome Editing: Friend or Foe? Navigating the Legal, Ethical and Regulatory Challenges in Australia Doctor of Philosophy Doctorate Part Time Miss Olga Christine Pandos
2020 - 2025 Co-Supervisor DEVELOPING CRISPR-BASED GENOME EDITING THERAPY FOR DUCHENNE MUSCULAR DYSTROPHY Doctor of Philosophy Doctorate Full Time Mr Jayshen Christa Arudkumar
2018 - 2021 Co-Supervisor Exploring the cooperation and targetability of CRLF2 and HMGN1 in Down Syndrome Acute Lymphoblastic Leukaemia Doctor of Philosophy Doctorate Full Time Miss Elyse Chenae Page
2017 - 2020 Principal Supervisor CRISPR Technology Development: Gene Drives and Genome Editing Doctor of Philosophy Doctorate Full Time Mr Chandran Pfitzner
2016 - 2021 Co-Supervisor Investigating Reprogramming Factors and Neural Conditions to Convert Human Dental Pulp Stem Cells into Neural Stem Cells Doctor of Philosophy Doctorate Full Time Miss Maria Roumenova Gancheva
2015 - 2019 Principal Supervisor Investigation of the GATOR1 Complex Genes in Focal Cortical Dysplasia and Focal Epilepsy Doctor of Philosophy Doctorate Full Time Ms Ruby Emily Dawson
2015 - 2018 Principal Supervisor Mouse Genome Modification and Investigation of Episodic Disease Doctor of Philosophy Doctorate Full Time Miss Louise Jane Robertson
2014 - 2019 Principal Supervisor Identification and Validation of SOXB1 Bound Developmental Enhancers Doctor of Philosophy Doctorate Full Time Ella Paulina Thomson
2014 - 2023 Co-Supervisor Function and Mechanism of The Single-Minded 2 Gene Doctor of Philosophy Doctorate Full Time Emily Lyn Button
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
2009 - 2020 Principal Supervisor Deciphering the Transcriptional Mechanisms and Function of SOX3 in the Developing Embryonic Mouse Brain and Postnatal Testes Doctor of Philosophy Doctorate Full Time Mr Dale Christopher McAninch
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

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

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