Ms Sandra Piltz
Senior Technical Officer
School of Pharmacy and Biomedical Sciences
College of Health
Senior Technical Officer with SA Genome Editing.Primary Microinjectionist for Professor Paul Thomas.25 years of experience working with experimental mouse models, both in Australia and the UK.Experienced in many transgenic and surgical techniques.Occasional demonstrator /instructor at tafeSA, Gilles Plains
I work primarily on the generation of custom mouse models of human disease. I have been working in mouse embryology since 1998.
| Date | Position | Institution name |
|---|---|---|
| 2008 - ongoing | Transgenic Coordinator | University of Adelaide |
| Date | Title | Institution name | Country |
|---|---|---|---|
| — | Animal Care Certificate | tafeSA | Australia |
| Year | Citation |
|---|---|
| 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.. Nature Communications, 17(1), 17511-1751-17. Scopus1 WoS1 |
| 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. |
| 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. Scopus7 WoS3 Europe PMC5 |
| 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. Scopus13 WoS12 Europe PMC11 |
| 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. Scopus2 WoS3 Europe PMC5 |
| 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. Scopus5 WoS4 Europe PMC3 |
| 2024 | 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), 19-1-19-13. |
| 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. Scopus34 WoS35 Europe PMC38 |
| 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. |
| 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. Scopus44 WoS36 Europe PMC37 |
| 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. Scopus7 Europe PMC5 |
| 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. Scopus53 WoS52 Europe PMC53 |
| 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. Scopus33 WoS30 Europe PMC25 |
| 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. Scopus3 WoS3 Europe PMC3 |
| 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. Scopus2 WoS3 Europe PMC5 |
| 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. Scopus74 WoS73 Europe PMC72 |
| 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. Scopus3 WoS5 Europe PMC2 |
| 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. Scopus29 WoS27 Europe PMC32 |
| 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. 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. Scopus19 WoS17 Europe PMC22 |
| 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. Scopus66 WoS56 Europe PMC70 |
| 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. 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. Scopus300 WoS296 Europe PMC303 |
| 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. Scopus102 WoS97 Europe PMC98 |
| 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. Scopus46 WoS40 Europe PMC39 |
| 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. Scopus51 WoS47 Europe PMC46 |
| 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. |
| 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. Scopus55 WoS52 Europe PMC51 |
| 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. |
| 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. Scopus20 WoS21 Europe PMC17 |
| 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. Scopus23 WoS30 Europe PMC19 |
| 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. Scopus55 WoS48 Europe PMC49 |
| 2009 | Landry, J. R., Bonadies, N., Kinston, S., Knezevic, K., Wilson, N. K., Oram, S. H., . . . Göttgens, B. (2009). Expression of the leukemia oncogene Lmo2 is controlled by an array of tissue-specific elements dispersed over 100 kb and bound by Tal1/Lmo2, Ets, and Gata factors. Blood, 113(23), 5783-5792. Scopus67 Europe PMC62 |
| 2007 | Ogilvy, S., Ferreira, R., Piltz, S. G., Bowen, J. M., Göttgens, B., & Green, A. R. (2007). The SCL +40 enhancer targets the midbrain together with primitive and definitive hematopoiesis and is regulated by SCL and GATA proteins. Molecular and Cellular Biology, 27(20), 7206-7219. Scopus38 WoS37 Europe PMC36 |
| 2007 | Pimanda, J. E., Donaldson, I. J., De Bruijn, M. F. T. R., Kinston, S., Knezevic, K., Huckle, L., . . . Göttgens, B. (2007). The SCL transcriptional network and BMP signaling pathway interact to regulate RUNX1 activity. Proceedings of the National Academy of Sciences of the United States of America, 104(3), 840-845. Scopus102 Europe PMC92 |
| 2007 | Chan, W. Y. I., Follows, G. A., Lacaud, G., Pimanda, J. E., Landry, J. R., Kinston, S., . . . Göttgens, B. (2007). The paralogous hematopoietic regulators Lyl1 and Scl are coregulated by Ets and GATA factors, but Lyl1 cannot rescue the early Scl-/- phenotype. Blood, 109(5), 1908-1916. Scopus68 Europe PMC69 |
| 2005 | Li, J., Bench, A. J., Piltz, S., Vassiliou, G., Baxter, E. J., Ferguson-Smith, A. C., & Green, A. R. (2005). L3mbtl, the mouse orthologue of the imprinted L3MBTL, displays a complex pattern of alternative splicing and escapes genomic imprinting. Genomics, 86(4), 489-494. Scopus17 Europe PMC14 |
| 2005 | Delabesse, E., Ogilvy, S., Chapman, M. A., Piltz, S. G., Gottgens, B., & Green, A. R. (2005). Transcriptional regulation of the SCL locus: Identification of an enhancer that targets the primitive erythroid lineage in vivo. Molecular and Cellular Biology, 25(12), 5215-5225. Scopus56 WoS55 Europe PMC52 |
| 2005 | Silberstein, L., Sánchez, M. J., Socolovsky, M., Liu, Y., Hoffman, G., Kinston, S., . . . Göttgens, B. (2005). Transgenic analysis of the stem cell leukemia +19 stem cell enhancer in adult and embryonic hematopoietic and endothelial cells. Stem Cells, 23(9), 1378-1388. Scopus34 Europe PMC28 |
| 2005 | Donaldson, I. J., Chapman, M., Kinston, S., Landry, J. R., Knezevic, K., Piltz, S., . . . Göttgens, B. (2005). Genome-wide identification of cis-regulatory sequences controlling blood and endothelial development. Human Molecular Genetics, 14(5), 595-601. Scopus75 Europe PMC68 |
| 2004 | Göttgens, B., Broccardo, C., Sanchez, M. J., Deveaux, S., Murphy, G., Göthert, J. R., . . . Green, A. R. (2004). The scl +18/19 Stem Cell Enhancer Is Not Required for Hematopoiesis: Identification of a 5′ Bifunctional Hematopoietic-Endothelial Enhancer Bound by Fli-1 and Elf-1. Molecular and Cellular Biology, 24(5), 1870-1883. Scopus77 Europe PMC71 |
| 2002 | Sinclair, A. M., Bench, A. J., Bloor, A. J. C., Li, J., Göttgens, B., Stanley, M. L., . . . Green, A. R. (2002). Rescue of the lethal scl-/- phenotype by the human SCL locus. Blood, 99(11), 3931-3938. Scopus8 Europe PMC6 |
| 2002 | Göttgens, B., Nastos, A., Kinston, S., Piltz, S., Delabesse, E. C. M., Stanley, M., . . . Green, A. R. (2002). Establishing the transcriptional programme for blood: The SCL stem cell enhancer is regulated by a multiprotein complex containing Ets and GATA factors. EMBO Journal, 21(12), 3039-3050. Scopus199 Europe PMC175 |
| Year | Citation |
|---|---|
| 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 |
| 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 | 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. |
| 2014 | Piltz, S. G. (2014). Rapid generation of mutant mice using CRISPR mediated genome editing (tips and tricks). Poster session presented at the meeting of Transgenic Research. Ediburgh, UK: Springer. |
| 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 |
| Year | Citation |
|---|---|
| 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 | 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 |
| 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 |
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