| 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 Scopus1 Europe PMC1 |
| 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 Scopus2 Europe PMC1 |
| 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 Scopus1 |
| 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 Scopus4 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. Scientific Reports, 14(1), 14 pages.
DOI |
| 2024 |
Duan, Y., Wang, J., Lanham, H. J., Berta, W., Chamberlain, S. A., Hoben, M., . . . Estabrooks, C. A. (2024). How context links to best practice use in long-term care homes: a mixed methods study. Implementation Science Communications, 5(1), 18 pages.
DOI |
| 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), 15 pages.
DOI |
| 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 Biology, 22(1).
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 Scopus9 WoS4 Europe PMC9 |
| 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 Scopus15 WoS6 Europe PMC10 |
| 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 Scopus2 |
| 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 Scopus4 Europe PMC1 |
| 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 |
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 Scopus19 WoS5 Europe PMC11 |
| 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 Scopus17 WoS5 Europe PMC18 |
| 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 Scopus13 WoS5 Europe PMC10 |
| 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 Scopus16 WoS8 Europe PMC9 |
| 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 Scopus23 WoS7 Europe PMC15 |
| 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 |
| 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 Scopus5 WoS2 |
| 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 Scopus19 WoS14 Europe PMC16 |
| 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 Scopus2 WoS2 Europe PMC2 |
| 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 Scopus44 WoS26 Europe PMC26 |
| 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 WoS1 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 Scopus6 WoS4 Europe PMC6 |
| 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 Scopus18 WoS13 Europe PMC9 |
| 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 WoS2 Europe PMC3 |
| 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 Scopus7 WoS4 Europe PMC5 |
| 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 Scopus8 WoS6 Europe PMC4 |
| 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 Scopus23 WoS17 Europe PMC14 |
| 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.
DOI Scopus83 |
| 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 Scopus24 WoS16 Europe PMC12 |
| 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 Scopus20 WoS14 Europe PMC19 |
| 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 WoS1 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 Scopus17 WoS9 Europe PMC14 |
| 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 Scopus11 Europe PMC6 |
| 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 Scopus33 WoS22 Europe PMC19 |
| 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 Scopus44 WoS31 Europe PMC29 |
| 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 Scopus37 WoS28 Europe PMC17 |
| 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 Scopus34 WoS24 Europe PMC19 |
| 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 WoS4 Europe PMC3 |
| 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 Scopus60 WoS40 Europe PMC46 |
| 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 WoS4 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 Scopus94 WoS71 Europe PMC72 |
| 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 Scopus14 WoS12 Europe PMC12 |
| 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 Scopus43 WoS28 Europe PMC27 |
| 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 Scopus5 WoS4 Europe PMC3 |
| 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 Scopus240 WoS188 Europe PMC198 |
| 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 Scopus16 WoS15 Europe PMC10 |
| 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 Scopus53 WoS43 Europe PMC38 |
| 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 Scopus26 WoS21 Europe PMC18 |
| 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 Scopus18 WoS16 Europe PMC14 |
| 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 Scopus64 WoS58 Europe PMC52 |
| 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 Scopus91 WoS87 Europe PMC67 |
| 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 Scopus88 WoS79 Europe PMC47 |
| 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 Scopus174 WoS142 Europe PMC118 |
| 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 Scopus41 WoS36 Europe PMC32 |
| 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 Scopus31 WoS21 Europe PMC31 |
| 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 Scopus14 WoS12 Europe PMC10 |
| 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 Scopus28 WoS22 Europe PMC16 |
| 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 Scopus50 WoS38 Europe PMC36 |
| 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 Scopus178 WoS136 Europe PMC104 |
| 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 Scopus38 WoS34 Europe PMC29 |
| 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 WoS17 Europe PMC13 |
| 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 Scopus67 WoS54 Europe PMC40 |
| 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 Scopus45 WoS34 Europe PMC26 |
| 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 Scopus31 WoS23 Europe PMC14 |
| 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 Scopus10 WoS10 Europe PMC9 |
| 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 Scopus9 WoS7 Europe PMC6 |
| 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 Scopus24 WoS19 Europe PMC17 |
| 2013 |
Wilhelm, D., Yang, J., & Thomas, P. (2013). Mammalian sex determination and gonad development. Current Topics in Developmental Biology, 106, 89-121.
DOI Scopus36 Europe PMC16 |
| 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 Scopus34 WoS28 Europe PMC26 |
| 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 Scopus302 WoS249 Europe PMC191 |
| 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 WoS18 Europe PMC14 |
| 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 Scopus70 WoS70 Europe PMC50 |
| 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 Scopus66 WoS54 Europe PMC34 |
| 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 Scopus92 WoS81 Europe PMC73 |
| 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 Scopus22 WoS27 Europe PMC15 |
| 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 Scopus234 WoS195 Europe PMC147 |
| 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 Scopus53 WoS44 Europe PMC37 |
| 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 Scopus236 WoS178 Europe PMC132 |
| 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 Scopus34 WoS27 Europe PMC28 |
| 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 Scopus54 WoS39 Europe PMC32 |
| 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 Scopus336 WoS287 Europe PMC258 |
| 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 Scopus37 WoS31 Europe PMC30 |
| 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 Scopus376 WoS311 Europe PMC250 |
| 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 PMC12 |
| 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 Scopus35 WoS33 Europe PMC28 |
| 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 PMC7 |
| 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 Scopus214 WoS190 Europe PMC175 |
| 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 Scopus17 WoS15 Europe PMC12 |
| 2007 |
Wagner, J., & Thomas, P. (2007). Genetic determinants of mammalian pituitary morphogenesis. Frontiers in Bioscience, 12, 125-134.
Scopus9 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 Scopus25 WoS25 Europe PMC21 |
| 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 Scopus61 WoS50 Europe PMC43 |
| 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 Scopus86 WoS68 Europe PMC50 |
| 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 WoS12 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 Scopus219 WoS176 Europe PMC125 |
| 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 Scopus65 WoS60 Europe PMC46 |
| 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 WoS22 Europe PMC19 |
| 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 Scopus94 WoS76 Europe PMC57 |
| 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 Scopus109 WoS94 Europe PMC76 |
| 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 Scopus251 WoS211 Europe PMC182 |
| 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 Scopus106 WoS96 Europe PMC82 |
| 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 Scopus186 WoS161 Europe PMC134 |
| 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 Scopus256 WoS221 Europe PMC166 |
| 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 Scopus70 WoS56 Europe PMC44 |
| 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 PMC17 |
| 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.
Scopus52 WoS38 Europe PMC33 |
| 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 Scopus261 WoS226 Europe PMC194 |
| 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.
Scopus281 WoS206 Europe PMC147 |
| 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 Scopus404 WoS360 Europe PMC265 |
| 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 Scopus40 WoS34 Europe PMC23 |
| 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 Scopus112 WoS80 Europe PMC52 |
| 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 WoS74 Europe PMC55 |
| 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 Scopus78 WoS79 Europe PMC53 |
| 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 PMC7 |
| 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 Scopus662 WoS516 Europe PMC359 |
| 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 Scopus452 WoS422 Europe PMC301 |
| 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 Scopus482 WoS457 Europe PMC310 |
| 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 Scopus111 WoS95 Europe PMC55 |
| 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 Scopus51 WoS49 Europe PMC34 |
| 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 PMC12 |
| 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 PMC9 |
