Ms Sandra Piltz
Senior Technical Officer
School of Biomedicine
Faculty of Health and Medical Sciences
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.
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Appointments
Date Position Institution name 2008 - ongoing Transgenic Coordinator University of Adelaide -
Certifications
Date Title Institution name Country — Animal Care Certificate tafeSA Australia -
Research Interests
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Journals
Year Citation 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), 132.
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.
Scopus1 WoS1 Europe PMC12024 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.
Scopus11 WoS10 Europe PMC82024 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.
Europe PMC12024 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.
Scopus3 WoS2 Europe PMC22023 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.
Scopus28 WoS28 Europe PMC292023 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.
Scopus36 WoS29 Europe PMC282022 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.
Scopus6 Europe PMC52022 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.
Scopus37 WoS36 Europe PMC482022 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.
Scopus25 WoS21 Europe PMC172021 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 PMC32021 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 PMC52021 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.
Scopus63 WoS60 Europe PMC542021 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.
Scopus2 WoS4 Europe PMC22020 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.
Scopus25 WoS21 Europe PMC262020 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.
Scopus39 WoS34 Europe PMC272020 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 PMC202019 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.
Scopus64 WoS54 Europe PMC612018 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.
WoS5 Europe PMC42018 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.
Scopus277 WoS273 Europe PMC2772018 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.
Scopus98 WoS93 Europe PMC932018 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.
Scopus44 WoS38 Europe PMC382017 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.
Scopus50 WoS46 Europe PMC442017 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(1), 26765-1-26765-10.
Scopus52 WoS49 Europe PMC482014 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 WoS20 Europe PMC172012 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 WoS29 Europe PMC182011 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.
Scopus54 WoS47 Europe PMC472009 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 PMC622007 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 PMC352007 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.
Scopus101 Europe PMC882007 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.
Scopus67 Europe PMC642005 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 PMC152005 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 PMC492005 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 PMC282005 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 PMC672004 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 PMC702002 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 PMC62002 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.
Scopus197 Europe PMC173- 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).
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Conference Papers
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.
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Conference Items
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.
DOI2023 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.
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Preprint
Year Citation 2024 Arudkumar, J., Chey, Y. C. J., Piltz, S. G., Thomas, P. Q., & Adikusuma, F. (2024). Generation and characterisation of mouse models of Duchenne Muscular Dystrophy (DMD).
DOI2024 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.
DOI2021 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.
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