Prof Karin Kassahn

School of Medicine

College of Health


Qualifications: PhD, FFSc Research (RCPA)Selected appointments: Head of Technology Advancement Unit (1/2013), SA PathologyAffiliate Professor, Adelaide Medical School, The University of AdelaideSpecialties: Clinical genomics, clinical bioinformatics, diagnostics, policy development and standards.Professor Karin Kassahn is a Clinical Scientist and Head of Technology Advancement at SA Pathology and Affiliate Professor in the Adelaide Medical School at the University of Adelaide. Karin has been integral to introducing genomics and clinical bioinformatics into routine clinical care across the germline, cancer, paediatric and adult settings. She oversees the development and validation of genomic tests for diagnostic use and provides leadership in day-to-day service delivery. Karin is a national leader in the integration of genomics in pathology and provides expert advice on strategic directions, policies and standards for clinical genomics and bioinformatics both locally and nationally. She holds committee positions within the NATA Accreditation Advisory Committee for Life Sciences and the RCPA Faculty of Science Committee. She contributes to teaching within the The University of Adelaide and through the Royal College of Pathologists of Australasia. Karin is passionate about translational research. She has a research background in bioinformatics, cancer genomics and population biology. Her current research interests focus on genomic newborn screening and prenatal and perinatal genomics. Previously, she was an active member of the International Cancer Genome Consortium where her research focused on mutation profiling of pancreatic cancers and more recently an active member of several Australian Genomics working groups and projects. She was awarded a PhD in 2007 in comparative genomics and bioinformatics. Karin is currently CIA of MRFF Genomics Health Futures Mission (GHFM) grant to investigate a new model of genomic newborn screening.

My research interests are in the application of genomics and clinical bioinformatics in clinical translational research and diagnostics. A current focus of research is the application of genomic and multi-omics methods to newborn screening, as is the use of genomics for prenatal management and the identification of the causes of perinatal death. The development of improved e-ordering solutions to guide and improve the requesting of genomic testing is another active area of research. In my clinical role at SA Pathology, my team provides genomics and bioinformatics analyses as part of our clinical diagnostics and pathology service. I am an active member of the Australian Genomics national collaborative network to mainstream genomics in health care and the Genomic Screening Consortium for Australian Newborns (GenScan) and the International Consortium for Newborn Sequencing (ICoNS).

Date Position Institution name
2024 - ongoing Affiliate Professor University of Adelaide
2021 - 2024 Affiliate Associate Professor University of Adelaide
2013 - ongoing Head, Technology Advancement SA Pathology

Date Type Title Institution Name Country Amount
2023 Award Clinical Liaison Award SA Pathology Australia -
2016 Award Nomination Women in Technology Award Science Category - - -
2015 Award Excellence in Non-clinical Services SA Health - -

Language Competency
German Can read, write and understand spoken

Date Institution name Country Title
2003 - 2007 James Cook University Australia PhD
2002 - 2002 The University of Adelaide Australia B.Sc.(Hons)

Date Title Institution name Country
2014 Fellow of the Faulty of Science, RCPA Royal Australasian College of Physicians Australia

Year Citation
2025 Taylor, N., Pirreca, M., Bennetts, B., Ho, G., Boggs, K., Kassahn, K. S., . . . Stark, Z. (2025). Genomic Screening Consortium for Australian Newborns (GenSCAN). Journal of Paediatrics and Child Health, 61(9), 1438-1443.
DOI Scopus1 WoS2 Europe PMC2
2025 Schubert, C. M., Jackson, M. R., Barnett, C. P., Scott, H. S., Sullivan, T., Goodall, S., . . . Genomic Autopsy Study Research Network. (2025). Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death. Clinical Genetics, online(1), 13 pages.
DOI
2024 Wechalekar, M. D., Zhao, L. -P., Kutyna, M. M., Hong, L. E., Li, J., Hung, K., . . . Hiwase, D. K. (2024). Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features. Blood Cancer Journal, 14(1), 116-1-116-5.
DOI Scopus1 WoS1 Europe PMC1
2024 Mallawaarachchi, A., Biros, E., Harris, T., Bennetts, B., Boughtwood, T., Elliott, J., . . . Mallett, A. J. (2024). Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023. Human Genomics, 18(1), 88-1-88-10.
DOI Scopus3 WoS3 Europe PMC3
2024 Ball, M., Bouffler, S. E., Barnett, C. B., Freckmann, M. -L., Hunter, M. F., Kamien, B., . . . Christodoulou, J. (2024). Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing. Genetics in Medicine, 27(1), 101293-1-101293-14.
DOI Scopus3 WoS3 Europe PMC1
2024 Rogers, A., De Jong, L., Waters, W., Rawlings, L. H., Simons, K., Gao, S., . . . Kassahn, K. S. (2024). Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.. Aust N Z J Obstet Gynaecol, 64(5), 467-474.
DOI Scopus5 WoS4 Europe PMC4
2024 Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437-3443.
DOI Scopus4 WoS1 Europe PMC2
2024 Best, S., Fehlberg, Z., Richards, C., Quinn, M. C. J., Lunke, S., Spurdle, A. B., . . . Stark, Z. (2024). Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services. European Journal of Human Genetics, 32(11), 1-8.
DOI Scopus9 WoS7 Europe PMC7
2024 Ashenden, A. J., Chowdhury, A., Anastasi, L. T., Lam, K., Rozek, T., Ranieri, E., . . . Kassahn, K. S. (2024). The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges. International Journal of Neonatal Screening, 10(3), 42-1-42-17.
DOI Scopus7 WoS6 Europe PMC6
2024 Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780.
DOI Scopus9 WoS8 Europe PMC6
2023 Byrne, A. B., Arts, P., Ha, T. T., Kassahn, K. S., Pais, L. S., O'Donnell-Luria, A., . . . Webber, D. L. (2023). Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine, 29(1), 180-189.
DOI Scopus46 WoS40 Europe PMC32
2023 Ghaoui, R., Ha, T. T., Kerkhof, J., McConkey, H., Gao, S., Babic, M., . . . Kassahn, K. S. (2023). Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis. Neuromuscular Disorders, 33(6), 484-489.
DOI Scopus6 WoS6 Europe PMC6
2023 Ghaoui, R., Curtis, S., & Kassahn, K. S. (2023). Segmental Uniparental Isodisomy Causing an "Inside-to-Outside" Limb-Girdle Muscular Dystrophy Due to a Homozygous Mutation in POGLUT1. JAMA Neurology, 80(8), 868-869.
DOI Scopus1 WoS1 Europe PMC1
2023 Lunke, S., Bouffler, S. E., Patel, C. V., Sandaradura, S. A., Wilson, M., Pinner, J., . . . Stark, Z. (2023). Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature Medicine, 29(7), 1681-1691.
DOI Scopus91 WoS91 Europe PMC95
2022 Bournazos, A. M., Riley, L. G., Bommireddipalli, S., Ades, L., Akesson, L. S., Al-Shinnag, M., . . . Williams, M. G. (2022). Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. Genetics in Medicine, 24(1), 130-145.
DOI Scopus73 WoS75 Europe PMC76
2022 Scott, H., Byrne, A., Arts, P., Ha, T., Kassahn, K., Pais, L., . . . Barnett, C. (2022). A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence.
DOI
2022 Wu, D., Bampton, T. J., Scott, H. S., Brown, A., Kassahn, K., Drogemuller, C., . . . Coates, P. T. (2022). The clinical and genetic features of hereditary pancreatitis in South Australia.. Medical Journal of Australia, 216(11), 578-582.
DOI Scopus7 WoS5 Europe PMC4
2022 Tudini, E., Andrews, J., Lawrence, D. M., King-Smith, S. L., Baker, N., Baxter, L., . . . Shariant Consortium. (2022). Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.. American journal of human genetics, 109(11), 1960-1973.
DOI Scopus23 WoS21 Europe PMC24
2021 Dreyer, S. B., Upstill-Goddard, R., Paulus-Hock, V., Paris, C., Lampraki, E. M., Dray, E., . . . Anderson, M. (2021). Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer. Gastroenterology, 160(1), 362-377.e13.
DOI Scopus103 WoS105 Europe PMC109
2021 Leong, L. E. X., Soubrier, J., Turra, M., Denehy, E., Walters, L., Kassahn, K., . . . Lim, C. K. (2021). Whole-genome sequencing of SARS-CoV-2 from quarantine hotel outbreak. Emerging Infectious Diseases, 27(8), 2219-2221.
DOI Scopus13 WoS12 Europe PMC12
2020 Campbell, P. J., Getz, G., Korbel, J. O., Stuart, J. M., Jennings, J. L., Stein, L. D., . . . Roberts, N. D. (2020). Pan-cancer analysis of whole genomes. Nature, 578(7793), 82-93.
DOI Scopus2170 WoS1933 Europe PMC2203
2020 Brunton, H., Caligiuri, G., Cunningham, R., Upstill-Goddard, R., Bailey, U. M., Garner, I. M., . . . Quinn, M. (2020). HNF4A and GATA6 loss reveals therapeutically actionable subtypes in pancreatic cancer. Cell Reports, 31(6), 1-28.
DOI Scopus103 WoS102 Europe PMC104
2019 Byrne, A. B., Arts, P., Polyak, S. W., Feng, J., Schreiber, A. W., Kassahn, K. S., . . . Scott, H. S. (2019). Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. npj Genomic Medicine, 4(1), 1-8.
DOI Scopus25 WoS21 Europe PMC18
2018 Cheng, H., Dharmadhikari, A., Varland, S., Ma, N., Domingo, D., Kleyner, R., . . . Lyon, G. (2018). Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism spectrum disorder, and congenital anomalies. American Journal of Human Genetics, 102(5), 985-994.
DOI Scopus67 WoS62 Europe PMC73
2017 Humphris, J. L., Patch, A. M., Nones, K., Bailey, P. J., Johns, A. L., McKay, S., . . . Nguyen, Q. N. (2017). Hypermutation in pancreatic cancer. Gastroenterology, 152(1), 68-74.e2.
DOI Scopus191 WoS171 Europe PMC155
2017 Johns, A., McKay, S., Humphris, J., Pinese, M., Chantrill, L., Mead, R., . . . Williams, D. (2017). Lost in translation: returning germline genetic results in genome-scale cancer research. Genome Medicine, 9(1), 41.
DOI Scopus25 WoS25 Europe PMC22
2016 Bailey, P., Chang, D., Nones, K., Johns, A., Patch, A., Gingras, M., . . . Samra, J. (2016). Genomic analyses identify molecular subtypes of pancreatic cancer. Nature, 531(7592), 47-52.
DOI Scopus2871 WoS2732 Europe PMC2563
2016 Gingras, M., Chang, D., Donehower, L., Covington, K., Gill, A., Ittmann, M., . . . Cowley, M. (2016). Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulation. Cell Reports, 14(4), 907-919.
DOI Scopus121 WoS112 Europe PMC105
2016 Kaub, P. A., Kassahn, K. S., & Fletcher, J. M. (2016). Complex genetic test requests in SA: An MDT approach.. Pathology, 48 Suppl 1, S29.
DOI
2016 De Sousa, S. M. C., Kassahn, K. S., McIntyre, L. C., Chong, C. E., Scott, H. S., & Torpy, D. J. (2016). Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome. BMC Endocrine Disorders, 16(1), 58-1-58-7.
DOI Scopus7 WoS4 Europe PMC4
2015 Waddell, N., Pajic, M., Patch, A., Chang, D., Kassahn, K., Bailey, P., . . . Grimmond, S. (2015). Whole genomes redefine the mutational landscape of pancreatic cancer. Nature, 518(7540), 495-501.
DOI Scopus2217 WoS2072 Europe PMC1943
2015 Patch, A., Christie, E., Etemadmoghadam, D., Garsed, D., George, J., Fereday, S., . . . Bowtell, D. (2015). Whole-genome characterization of chemoresistant ovarian cancer. Nature, 521(7553), 489-494.
DOI Scopus1237 WoS1184 Europe PMC1135
2015 Saunus, J., Quinn, M., Patch, A., Pearson, J., Bailey, P., Nones, K., . . . Lakhani, S. (2015). Integrated genomic and transcriptomic analysis of human brain metastases identifies alterations of potential clinical significance. Journal of Pathology, 237(3), 363-378.
DOI Scopus105 WoS100 Europe PMC92
2015 Mordaunt, D., McIntyre, L., Salvemini, H., Ibrahim, A., Bratkovic, D., Ketteridge, D., . . . Smith, N. (2015). Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy. American Journal of Medical Genetics, Part A, 167(11), 2697-2701.
DOI Scopus3 WoS4 Europe PMC2
2015 Kassahn, K. S., Voolstra, C. R., Miller, D. J., Ragan, M. A., Hoffmann, A. A., Hoegh-Guldberg, O., . . . Fyffe, T. (2015). The ReFuGe 2020 Consortium—using “omics” approaches to explore the adaptability and resilience of coral holobionts to environmental change. Frontiers in Marine Science, 2(SEP), 8 pages.
DOI Scopus79 WoS73
2015 Patch, A. M., Christie, E. L., Etemadmoghadam, D., Garsed, D. W., George, J., Fereday, S., . . . Bowtell, D. D. L. (2015). Corrigendum: Whole-genome characterization of chemoresistant ovarian cancer. Nature, 527(7578), 398.
DOI Scopus18 WoS16 Europe PMC17
2014 Nones, K., Waddell, N., Song, S., Patch, A., Miller, D., Johns, A., . . . Grimmond, S. (2014). Genome-wide DNA methylation patterns in pancreatic ductal adenocarcinoma reveal epigenetic deregulation of SLIT-ROBO, ITGA2 and MET signaling. International Journal of Cancer, 135(5), 1110-1118.
DOI Scopus195 WoS184 Europe PMC170
2014 Quek, K., Nones, K., Patch, A. M., Lynn Fink, J., Newell, F., Cloonan, N., . . . Grimmond, S. M. (2014). A workflow to increase verification rate of chromosomal structural rearrangements using high-throughput next-generation sequencing. Biotechniques, 57(1), 31-38.
DOI
2014 Johns, A., Miller, D., Simpson, S., Gill, A., Kassahn, K., Humphris, J., . . . Beilin, M. (2014). Returning individual research results for genome sequences of pancreatic cancer. Genome Medicine: medicine in the post-genomic era, 6(5), 42-1-42-8.
DOI Scopus14 WoS13 Europe PMC19
2014 Kassahn, K. S., Scott, H. S., & Caramins, M. C. (2014). Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge. Human mutation, 35(4), 413-423.
DOI Scopus18 WoS18 Europe PMC16
2013 Kassahn, K., Holmes, O., Nones, K., Patch, A., Miller, D., Christ, A., . . . Pearson, J. (2013). Somatic point mutation calling in low cellularity tumors. PLoS One, 8(11), e74380-1-e74380-10.
DOI Scopus62 WoS62 Europe PMC59
2013 Chou, A., Waddell, N., Cowley, M., Gill, A., Chang, D., Patch, A., . . . Biankin, A. (2013). Clinical and molecular characterization of HER2 amplified-pancreatic cancer. Genome Medicine, 5(8), 78-1-78-11.
DOI Scopus107 WoS99 Europe PMC89
2013 Gonzalez-Perez, A., Mustonen, V., Reva, B., Ritchie, G., Creixell, P., Karchin, R., . . . Lopez-Bigas, N. (2013). Computational approaches to identify functional genetic variants in cancer genomes. Nature Methods, 10(8), 723-729.
DOI Scopus136 WoS129 Europe PMC128
2013 Heap, L., Goh, C., Kassahn, K., & Scott, E. (2013). Cerebellar output in zebrafish: an analysis of spatial patterns and topography in eurydendroid cell projections. Frontiers in Neural Circuits, 7(MAR), 53-1-53-14.
DOI Scopus60 WoS62 Europe PMC60
2012 Tang, Y., Han, S., Kassahn, K., Skarshewski, A., Rothnagel, J., & Smith, R. (2012). Complex evolutionary relationships among four classes of modular RNA-binding splicing regulators in eukaryotes: the hnRNP, SR, ELAV-like and CELF proteins. Journal of Molecular Evolution, 75(5), 214-228.
DOI Scopus10 WoS10 Europe PMC9
2012 Song, S., Nones, K., Miller, D., Harliwong, I., Kassahn, K. S., Pinese, M., . . . Pearson, J. V. (2012). qpure: A tool to estimate tumor cellularity from genome-wide single-nucleotide polymorphism profiles. PLoS ONE, 7(9), e45835-1-e45835-7.
DOI Scopus95 WoS111 Europe PMC89
2012 Tactacan, C., Chang, D., Cowley, M., Humphrey, E., Wu, J., Gill, A., . . . Australian Pancreratic Genome Initiative. (2012). RON is not a prognostic marker for resectable pancreatic cancer. BMC Cancer, 12(1), 395-1-395-9.
DOI
2012 Cridland, J., Curley, E., Wykes, M., Schroder, K., Sweet, M., Roberts, T., . . . Stacey, K. (2012). The mammalian PYHIN gene family: Phylogeny, evolution and expression. BMC Evolutionary Biology, 12(1), 140-1-140-17.
DOI Scopus177 WoS165 Europe PMC161
2012 Mann, K., Ward, J., Yew, C., Kovochich, A., Dawson, D., Black, M., . . . Copeland, N. (2012). Sleeping Beauty mutagenesis reveals cooperating mutations and pathways in pancreatic adenocarcinoma. Proceedings of the National Academy of Sciences, 109(16), 5934-5941.
DOI Scopus192 WoS187 Europe PMC175
2012 Perez-Mancera, P., Rust, A., van der Weyden, L., Kristiansen, G., Li, A., Sarver, A., . . . Collier, L. (2012). The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma. Nature, 486(7402), 266-270.
DOI Scopus283 WoS275 Europe PMC267
2012 Biankin, A., Nguyen, Q., Ruszkiewicz, A., & Worthley, C. (2012). Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature, 491(7424), 399-405.
DOI Scopus1795 WoS1683 Europe PMC1592
2011 Kolle, G., Shepherd, J., Gardiner, B., Kassahn, K., Cloonan, N., Wood, D., . . . Grimmond, S. (2011). Deep-transcriptome and ribonome sequencing redefines the molecular networks of pluripotency and the extracellular space in human embryonic stem cells. Genome Research, 21(12), 2014-2025.
DOI Scopus21 WoS21 Europe PMC22
2011 Cloonan, N., Wani, S., Xu, Q., Gu, J., Lea, K., Heater, S., . . . Grimmond, S. (2011). MicroRNAs and their isomiRs function cooperatively to target common biological pathways. Genome Biology, 12(12), R126.
DOI Scopus306 WoS290 Europe PMC275
2011 Kassahn, K. S., Waddell, N., & Grimmond, S. M. (2011). Sequencing transcriptomes in toto. Integrative Biology, 3(5), 522-528.
DOI Scopus15 WoS13 Europe PMC12
2011 Kassahn, K., Ragan, M., & Funder, J. (2011). Mineralocorticoid receptors: evolutionary and pathophysiological considerations. Endocrinology, 152(5), 1883-1890.
DOI Scopus39 WoS28 Europe PMC23
2011 Cowley, M., Pinese, M., Kassahn, K., Waddell, N., Pearson, J., Grimmond, S., . . . Wu, J. (2011). PINA v2.0: mining interactome modules. Nucleic Acids Research, 40(D1), D862-D865.
DOI Scopus291 WoS278 Europe PMC253
2010 Han, S. P., Kassahn, K. S., Skarshewski, A., Ragan, M. A., Rothnagel, J. A., & Smith, R. (2010). Functional implications of the emergence of alternative splicing in hnRNP A/B transcripts. RNA, 16(9), 1760-1768.
DOI Scopus23 WoS22 Europe PMC21
2010 Maetschke, S. R., Kassahn, K. S., Dunn, J. A., Han, S. P., Curley, E. Z., Stacey, K. J., & Ragan, M. A. (2010). A visual framework for sequence analysis using n-grams and spectral rearrangement. Bioinformatics, 26(6), 737-744.
DOI Scopus13 WoS12 Europe PMC9
2009 Kassahn, K. S., Dang, V. T., Wilkins, S. J., Perkins, A. C., & Ragan, M. A. (2009). Evolution of gene function and regulatory control after whole-genome duplication: Comparative analyses in vertebrates. Genome Research, 19(8), 1404-1418.
DOI Scopus163 WoS156 Europe PMC152
2009 Kassahn, K. S., Crozier, R. H., Pörtner, H. O., & Caley, M. J. (2009). Animal performance and stress: responses and tolerance limits at different levels of biological organisation. Biological Reviews, 84(2), 277-292.
DOI Scopus225 WoS205 Europe PMC140
2008 Dang, V. T., Kassahn, K. S., Marcos, A. E., & Ragan, M. A. (2008). Identification of human haploinsufficient genes and their genomic proximity to segmental duplications. European Journal of Human Genetics, 16(11), 1350-1357.
DOI Scopus107 WoS104 Europe PMC105
2008 Kassahn, K. S. (2008). Microarrays for comparative and ecological genomics: Beyond single-species applications of array technologies. Journal of Fish Biology, 72(9), 2407-2434.
DOI Scopus23 WoS26
2007 Foret, S., Kassahn, K., Grasso, L., Hayward, D., Iguchi, A., Ball, E., & Miller, D. (2007). Genomic and microarray approaches to coral reef conservation biology. Coral Reefs, 26(3), 475-486.
DOI Scopus39 WoS37
2007 Kassahn, K., Caley, M., Ward, A., Connolly, A., Stone, G., & Crozier, R. (2007). Heterologous microarray experiments used to identify the early gene response to heat stress in a coral reef fish. Molecular Ecology, 16(8), 1749-1763.
DOI Scopus84 WoS74 Europe PMC61
2007 Kassahn, K. S., Crozier, R. H., Ward, A. C., Stone, G., & Caley, M. J. (2007). From transcriptome to biological function: environmental stress in an ectothermic vertebrate, the coral reef fish Pomacentrus moluccensis. BMC Genomics, 8(1), 358-1-358-16.
DOI Scopus59 WoS56 Europe PMC39
2003 Kassahn, K., Donnellan, S., Fowler, A., Hall, K., Adams, M., & Shaw, P. (2003). Molecular and morphological analyses of the cuttlefish Sepia apama indicate a complex population structure. Marine Biology, 143(5), 947-962.
DOI Scopus49 WoS48

Year Citation
2024 Welland, M., Ahlquist, K., De Fazio, P., Austin-Tse, C., Pais, L., Wedd, L., . . . Stark, Z. (2024). Scalable automated reanalysis in rare disease: achieving high performance while limiting curation burden in diverse clinical and research cohorts. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 32 (pp. 827-828). GERMANY, Berlin: SPRINGERNATURE.
2024 Sanchez, L., Douglas, E., Kang, S. L., Cox, K., Burrows, L., Kulkarni, A., . . . Yu, S. (2024). Impact of reanalysis of clinical exome data on diagnostic yield. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 32 (pp. 1055). GERMANY, Berlin: SPRINGERNATURE.
2024 Gverdtsiteli, S., Prasad, A. N., Kinali, M., Sallevelt, S., Kassahn, K., Stafstrom, C., . . . Moller, R. S. (2024). Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) - novel common phenotype across brain-expressed sodium channelopathies. In EPILEPSIA Vol. 65 (pp. 311). ITALY, Rome: WILEY.
2023 Gverdtsiteli, S., Furia, F., Ortiz, S., Borggraefe, I., Conchi, M., Kassahn, K., . . . Moller, R. S. (2023). Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis (NDEEMA) -novel common phenotype across brain-expressed sodium channelopathies. In EPILEPSIA Vol. 64 (pp. 542). IRELAND, Dublin: WILEY.
2023 Lunke, S., Bouffler, S., Patel, C., Sandaradura, S., Wilson, M., Pinner, J., . . . Stark, Z. (2023). Rapid rare disease diagnosis on a national scale: an integrated multi-omic approach. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 31 (pp. 37-38). AUSTRIA, Vienna: SPRINGERNATURE.
2012 Pajic, M., Chang, D. K., Kassahn, K. S., Wu, J., Cowley, M., Waddell, N., . . . Biankin, A. V. (2012). Proffered Paper: Testing Individualised Treatment Strategies in Preclinical Models of Pancreatic Cancer. In EUROPEAN JOURNAL OF CANCER Vol. 48 (pp. S22). SPAIN, Barcelona: ELSEVIER SCI LTD.
DOI

Year Citation
2024 Thuong, H., Byrne, A., Arts, P., Kassahn, K., Pais, L., O'Donnell-Luria, A., . . . Barnett, C. P. (2024). The Australian national genomic autopsy study: a summary of results, outcomes and instructive families from 406 trios/quads. Poster session presented at the meeting of Abstracts of the 57th European Society of Human Genetics (ESHG, 2024) Conference as published in European Journal of Human Genetics. Berlin, Germany: Springer Nature.
2019 Barnett, C. P., Byrne, A. B., Arts, P., Feng, J., Wang, P. S., Schrieber, A., . . . Scott, H. (2019). The Genomic Autopsy Study: using genomics as an adjunct to standard autopsy to unlock the cause of complex fetal and neonatal presentations. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Milan, ITALY: NATURE PUBLISHING GROUP.
2019 Fletcher, J., Brion, K., Douglas, E., Dubowsky, A., Friend, K., Geoghagan, J., . . . Kassahn, K. (2019). Outcome of genomic testing in in South Australia: detection rate is not the same for all (virtual) panels. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. Gothenburg, SWEDEN: NATURE PUBLISHING GROUP.

MRFF 2017145: Newborn screening model using Integrated multi-omics in South Australia (NewbornsInSA). Principal Investigator. 2023 - 2025.

MRFF 2008820: A national large scale automated reanalysis program to increase rare disease diagnosis. Co-Investigator. 

NHMRC 2021396: Genomic Autopsy of Pregnancy loss Study (GAPS): genomic investigations to help solve unexplained pregnancy loss at all gestations. Co-Investigator.

MRFF: PreGen: Filling the Gap – Antenatal Genomics and Newborn Care research project

NHMRC Investigator Grant. APP1194633. Diagnosing hereditary myopathies and dystrophies with RNA sequencing: translating research innovations into diagnostic practice.  Associate Investigator.

NHMRC Project Grant APP1164601. Germline mutations in familial hematopoietic malignancies identifies new pan-cancer predisposition genes and may alter clinical decision making, including for known cancer genes. 

NHMRC. APP1105719. Genetic autopsy of perinatal death: diagnosis and discovery by Whole Genome Sequencing. 

NHMRC Targeted Call for Research into Genomics. APP1113531. Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance. . Associate Investigator. Project 2. A national approach to data federation and analysis.

 

Precision Medicine HLTH SCI 2108 

RCPA Short Course in Genomics

Date Role Research Topic Location Program Supervision Type Student Load Student Name
2020 - 2020 Co-Supervisor The epidemiology of hereditary pancreatitis in South Australia The University of Adelaide - Honours - Danny Wu
2014 - 2020 Co-Supervisor The genomic autopsy: diagnosis and discovery through whole exome and whole genome sequencing University of South Australia - Doctorate - Alicia Byrne

Date Role Committee Institution Country
2020 - 2022 Member NATA Accreditation Advisory Committee NATA Australia
2018 - 2022 Member Faculty of Science Committee Royal College of Pathologists of Australasia Australia

Date Role Membership Country
2015 - ongoing Member Human Genetics Society of Australasia -
2014 - ongoing - Fellow Faculty of Science (RCPA) -

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