Paul Thomas

Prof Paul Thomas

Professor

School of Pharmacy and Biomedical Sciences

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
2026 Bersten, D. C., McDougal, D. P., Sullivan, A. E., Gerassimou, A., Breen, J., Fitzsimmons, R. L., . . . Whitelaw, M. L. (2026). Multimodal bHLH-PAS DNA binding controls specificity and drives obesity. Nucleic Acids Research (NAR), 54(1), gkaf1352-1-gkaf1352-21.
DOI
2026 Wiszniak, S., Alankarage, D., Lohraseb, I., Marchant, C., Secker, G., Domingo, D., . . . Schwarz, Q. (2026). Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the second heart field to orchestrate outflow tract development.. Nat Commun, 17(1), 17 pages.
DOI
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 Scopus1
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 Scopus5 WoS5 Europe PMC4
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, article no. 132), 132-1-132-13.
DOI
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 Scopus5 WoS3 Europe PMC3
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 WoS1 Europe PMC3
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 Scopus11 WoS9 Europe PMC9
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 Scopus15 WoS13 Europe PMC15
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 WoS3 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 WoS4 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 Scopus6 WoS4 Europe PMC4
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 Scopus13 WoS12 Europe PMC10
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 Scopus5 WoS5 Europe PMC5
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 Scopus1 WoS2 Europe PMC4
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 Scopus18 WoS13 Europe PMC20
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 Scopus32 WoS33 Europe PMC37
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 WoS4 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), 1177871.
DOI Scopus9 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
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 Scopus44 WoS45 Europe PMC50
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 Scopus31 WoS28 Europe PMC24
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 Scopus7 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 WoS9
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 Scopus41 WoS34 Europe PMC33
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 Scopus19 WoS18 Europe PMC17
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 Scopus28 WoS26 Europe PMC28
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
2022 Woodford, J., Gillman, A., Jenvey, P., Roberts, J., Woolley, S., Barber, B. E., . . . McCarthy, J. S. (2022). Positron emission tomography and magnetic resonance imaging of the brain in experimental human malaria, a prospective cohort study. Scientific Reports, 12(1), 5696-1-5696-8.
DOI WoS3
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 Scopus68 WoS67 Europe PMC65
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 Scopus3 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 Scopus11 WoS9 Europe PMC11
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 PMC17
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 Scopus10 WoS10 Europe PMC10
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 PMC20
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 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 Scopus27 WoS24 Europe PMC30
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 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 Scopus40 WoS35 Europe PMC31
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 WoS14 Europe PMC13
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 Scopus12 WoS10 Europe PMC10
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 Scopus30 WoS27 Europe PMC22
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, 18 pages.
DOI Scopus110 WoS101 Europe PMC56
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 Scopus28 WoS26 Europe PMC26
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 Scopus50 WoS49 Europe PMC46
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 Scopus48 WoS41 Europe PMC28
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 PMC69
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 Scopus36 WoS32 Europe PMC30
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
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 WoS6 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 Scopus99 WoS94 Europe PMC98
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 PMC17
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 Scopus45 WoS39 Europe PMC39
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 Scopus292 WoS286 Europe PMC303
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 PMC17
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 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 Scopus56 WoS53 Europe PMC52
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 WoS20 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 Scopus74 WoS75 Europe PMC79
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 Scopus98 WoS96 Europe PMC86
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 Scopus98 WoS90 Europe PMC79
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 Scopus211 WoS195 Europe PMC188
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 PMC46
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 Scopus43 WoS42 Europe PMC68
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.
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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 Scopus206 WoS186 Europe PMC162
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 Scopus16 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(26765), 26765-1-26765-10.
DOI Scopus53 WoS50 Europe PMC51
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 Scopus20 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 Scopus73 WoS66 Europe PMC60
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 PMC8
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 Scopus50 WoS40 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 Scopus36 WoS27 Europe PMC23
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 Scopus14 WoS14 Europe PMC11
2014 Piltz, S., Adikusuma, F., Hughes, J., & Thomas, P. (2014). Rapid generation of mutant mice using CRISPR-mediated genome editing (tips and tricks). TRANSGENIC RESEARCH, 23(5), 867.
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 PMC23
2013 Wilhelm, D., Yang, J., & Thomas, P. (2013). Mammalian sex determination and gonad development. Current Topics in Developmental Biology, 106, 89-121.
DOI Scopus42 WoS33 Europe PMC27
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 Scopus339 WoS294 Europe PMC257
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 PMC67
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 Scopus73 WoS60 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 Scopus97 WoS94 Europe PMC94
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 PMC19
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 Scopus247 WoS213 Europe PMC197
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 Scopus55 WoS48 Europe PMC49
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 Scopus257 WoS201 Europe PMC178
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 PMC37
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 Scopus57 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 Scopus359 WoS319 Europe PMC316
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 Scopus393 WoS354 Europe PMC324
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 WoS17 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 Scopus227 WoS218 Europe PMC213
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 Scopus90 WoS71 Europe PMC58
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 Scopus230 WoS184 Europe PMC162
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 PMC54
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 Scopus98 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 Scopus111 WoS100 Europe PMC88
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 Scopus263 WoS231 Europe PMC215
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 WoS114 Europe PMC109
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 Scopus198 WoS177 Europe PMC163
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 Scopus263 WoS231 Europe PMC206
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 PMC51
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 WoS23 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 Scopus274 WoS241 Europe PMC241
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.
Scopus292 WoS209 Europe PMC168
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 Scopus419 WoS376 Europe PMC338
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 WoS38 Europe PMC35
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 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 WoS80 Europe PMC67
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
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 Scopus686 WoS532 Europe PMC433
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 Scopus461 WoS437 Europe PMC382
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 WoS474 Europe PMC406
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 Scopus114 WoS97 Europe PMC72
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 UNIV 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
2013 Thomas, P. (2013). CURRENT TOPICS IN DEVELOPMENTAL BIOLOGY Endocrine Gland Development and Disease VOLUME ONE HUNDRED AND SIX PREFACE. In P. Thomas (Ed.), ENDOCRINE GLAND DEVELOPMENT AND DISEASE (Vol. 106, pp. XIII-XV). ELSEVIER ACADEMIC PRESS INC.
2002 Thomas, P. (2002). Septooptic Dysplasia. In NORD guide to rare disorders (pp. 188-189). Baltimore, MD, USA: Lippincott Williams & Wilkins.

Year Citation
2025 Stanziano, E., Wilczek, V., Harnas, D., Tangseefa, P., Piltz, S., White, M., . . . Fitter, S. (2025). Investigation of <i>SIK3</i> and <i>CEP164</i> variant pathogenicity in human fetuses with severe skeletal defects. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 33 (pp. 600). ITALY, Milan: SPRINGERNATURE.
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
2018 Bagheri-Fam, S., Wong, M., Wilson, S., Ayers, K., Rastetter, R., Thomas, P., . . . Wilhelm, D. (2018). Mutations in the <i>HMGCS2</i> gene are associated with disorders of sex development. In CLINICAL ENDOCRINOLOGY Vol. 89 (pp. 10). AUSTRALIA, Perth: WILEY.
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.
2009 Sutton, E., Hughes, J., Tan, J., Rogers, N., Sekido, R., Lovell-Badge, R., & Thomas, P. (2009). Expression of SOX3 in the urogenital ridge is associated with XX male sex reversal in mice. In MECHANISMS OF DEVELOPMENT Vol. 126 (pp. S160). Edinburgh, SCOTLAND: ELSEVIER SCIENCE BV.
DOI
2009 Lee, K., Piltz, S., Sutton, E., Rogers, N., & Thomas, P. (2009). Increased dosage of Sox3 leads to Subcommissural organ hypoplasia and is associated with Congenital Hydrocephalus. In MECHANISMS OF DEVELOPMENT Vol. 126 (pp. S124-S125). Edinburgh, SCOTLAND: ELSEVIER SCIENCE BV.
DOI
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.
2005 Thomas, P. Q., Wong, J. T., Solomon, N., Rizzoti, K., Lovell-Badge, R., Farlie, P. G., . . . Lockhart, P. J. (2005). Altered dosage of SOX3 is associated with defects in neural development and hypothalamic-pituitary axis function in mice and man. In MECHANISMS OF DEVELOPMENT Vol. 122 (pp. S77-S78). ELSEVIER SCIENCE BV.
2005 Wong, J. T., Solomon, N., Rizzoti, K., Lovell-Badge, R., Farlie, P. G., Holbert, S., . . . Thomas, P. Q. (2005). Mechanistic insight into X-linked Hypopituitarism: the role of SOX3. In MECHANISMS OF DEVELOPMENT Vol. 122 (pp. S55). ELSEVIER SCIENCE BV.
2002 Knight, M. A., Storey, E., Dixon, J., Rundle, H., Thomas, P. Q., Gardner, R. J. M., & Forrest, S. M. (2002). Dark dentate disease (DDD - A novel dominantly-inherited spinocerebellar ataxia phenotype.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 71 (pp. 440). MARYLAND, BALTIMORE: UNIV CHICAGO PRESS.
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.
2001 Knight, M. A., Kennerson, M., Nicholson, G. A., Gardner, R. J. M., Storey, E., Thomas, P. Q., & Forrest, S. M. (2001). A new Spinocerebellar Ataxia, SCA 15.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 509). UNIV CHICAGO PRESS.
WoS5
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 PMC12
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). NEW YORK, PLAINVIEW: COLD SPRING HARBOR LAB PRESS.
DOI Scopus34 WoS24 Europe PMC7
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 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.
2020 Pfitzner, C., Prowse, T., Adikusuma, F., Piltz, S., Cassey, P., Ross, J., & Thomas, P. (2020). Safe development of CRISPR gene drives for invasive rodent population suppression. Poster session presented at the meeting of TRANSGENIC RESEARCH. SPRINGER.
2020 Page, E. C., Heatley, S. L., Thomas, P. Q., & White, D. L. (2020). Inducible Knockout of <i>HMGN1</i> in an <i>In Vivo</i> xenograft Model Reduces Down Syndrome Leukemic Burden and Increases Survival Outcomes. Poster session presented at the meeting of BLOOD. ELECTR NETWORK: ELSEVIER.
DOI
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.
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.
2011 Piltz, S. G., & Hughes, J. (2011). Detection of Neo in copulation plugs from Sox3 polyanine targeted chimeras. Poster session presented at the meeting of Transgenic Research. St Pete Beach Florida: Springer.
DOI
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
2025 Wiszniak, S., Alankarage, D., Lohraseb, I., Marchant, C., Secker, G., Parker, W., . . . Schwarz, Q. (2025). Neural crest cell derived DKK1 modulates Wnt signalling in the second heart field to orchestrate cardiac outflow tract development.
DOI
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 Arthurs, A., Dietrich, B., Knöfler, M., Lushington, C., Thomas, P., Adikusuma, F., . . . Roberts, C. (2024). Genetically edited human placental organoids cast new light on the role of ACE2 in placental development.
DOI Europe PMC1
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
2024 Mincheva-Tasheva, S., Scherer, M., Robertson, L., Piltz, S., Bensalem, J., Pederick, D., & Thomas, P. (2024). Functional analysis of the epilepsy gene Pcdh19 using a novel GFP-reporter 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
2026 Co-Supervisor Advancing In Vivo Delivery Strategies for Gene Therapy in Duchenne Muscular Dystrophy Doctor of Philosophy Doctorate Full Time Mr Sieang Dechanun
2025 Co-Supervisor Cutting-Edge CRISPR Therapies Targeting a Wide Range of DMD Mutations Doctor of Philosophy Doctorate Full Time Mr Sahal Sabilil Muttaqin
2025 Co-Supervisor Cutting-Edge CRISPR Therapies Targeting a Wide Range of DMD Mutations - Doctorate Full Time Mr Sahal Sabilil Muttaqin
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
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
2023 Co-Supervisor Developing highly efficient CRISPR-therapeutic strategies for Duchenne Muscular Dystrophy in Primary Myoblast and Humanised mice models Master of Philosophy (Medical Science) Master Full Time Mr Ryan Hao Bing Lee
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
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
2021 Co-Supervisor Improving Disease Therapy with the Application of Prime Editing Doctor of Philosophy Doctorate Full Time Mr Caleb James Lushington
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
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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