Sandra Piltz

Research Interests

Animal Cell and Molecular Biology Gene and Molecular Therapy Genetically Modified Animals Fertility and Conception Innovative Therapeutics Neuroscience, Behaviour and Brain Health

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
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 Scopus3 WoS3 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 Scopus13 WoS12 Europe PMC10
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 WoS1 Europe PMC3
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
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 Scopus31 WoS32 Europe PMC31
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 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 PMC32
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 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 Scopus42 WoS41 Europe PMC49
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 Scopus26 WoS25 Europe PMC19
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
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 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 WoS64 Europe PMC64
2021 Thomson, E., Dawson, R., H'ng, C. H., Adikusuma, F., Piltz, S., & Thomas, P. Q. (2021). The Nestin neural enhancer is essential for normal levels of endogenous Nestin in neuroprogenitors but is not required for embryo development. PLoS One, 16(11), e0258538-1-e0258538-16.
DOI Scopus2 WoS4 Europe PMC2
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 PMC28
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
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 PMC64
2018 Robertson, L., Pederick, D., Piltz, S., White, M., Nieto, A., Ahladas, M., . . . Thomas, P. Q. (2018). Expanding the RNA-Guided Endonuclease Toolkit for Mouse Genome Editing.. The CRISPR journal, 1(6), 431-439.
DOI WoS5 Europe PMC4
2018 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 Scopus286 WoS281 Europe PMC298
2018 Pederick, D., Richards, K., Piltz, S., Kumar, R., Mincheva-Tasheva, S., Mandelstam, S., . . . Thomas, P. (2018). Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy. Neuron, 97(1), 59-e5.
DOI Scopus98 WoS93 Europe PMC95
2018 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 PMC38
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 Pederick, D., Richards, K., Piltz, S., Mandelstam, S., Dale, R., Scheffer, I., . . . Thomas, P. (2017). Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy. biorxiv.
DOI
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
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.
DOI Scopus20 WoS20 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.
DOI Scopus23 WoS29 Europe PMC18
2011 Ling, K., Brautigan, P., Hahn, C., Daish, T., Rayner, J., Cheah, P., . . . Scott, H. (2011). Deep sequencing analysis of the developing mouse brain reveals a novel microRNA. BMC Genomics, 12(1), 1-15.
DOI Scopus54 WoS47 Europe PMC48
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.
DOI 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.
DOI 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.
DOI Scopus102 Europe PMC90
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.
DOI Scopus68 Europe PMC67
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.
DOI 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.
DOI Scopus56 WoS55 Europe PMC50
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.
DOI 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.
DOI 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.
DOI 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.
DOI 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.
DOI Scopus198 Europe PMC174
- 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
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 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., 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
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

Connect With Me

External Profiles

Other Links