2024 |
Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. Blood Advances, 8(13), 3437-3443. DOI Scopus1 |
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, 8 pages. DOI Scopus1 |
2024 |
Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, blood.2024024607. DOI |
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. Australian and New Zealand Journal of Obstetrics and Gynaecology, 8 pages. DOI |
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 Scopus17 WoS5 Europe PMC12 |
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 Scopus2 WoS1 Europe PMC1 |
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 |
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 Scopus18 WoS1 Europe PMC13 |
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.. The Medical journal of Australia, 216(11), 578-582. DOI Scopus1 Europe PMC1 |
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 Scopus8 WoS2 Europe PMC7 |
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 Scopus75 Europe PMC61 |
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 Scopus9 WoS5 Europe PMC7 |
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 Scopus1652 WoS1106 Europe PMC1258 |
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 Scopus78 Europe PMC68 |
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 Scopus19 WoS11 Europe PMC12 |
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 Scopus54 WoS42 Europe PMC38 |
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 Scopus172 WoS150 Europe PMC112 |
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 Europe PMC20 |
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 Scopus2457 WoS2087 Europe PMC1787 |
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 Scopus106 Europe PMC74 |
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 PMC2 |
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 Scopus1968 WoS1710 Europe PMC1434 |
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 Scopus1117 Europe PMC837 |
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 Scopus95 WoS83 Europe PMC73 |
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 Scopus2 WoS3 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 Scopus70 |
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 Scopus16 Europe PMC10 |
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 Scopus177 Europe PMC129 |
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 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 WoS17 Europe PMC15 |
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 Europe PMC50 |
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 Scopus99 Europe PMC72 |
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 Scopus134 Europe PMC110 |
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 Scopus59 Europe PMC42 |
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 Scopus9 Europe PMC7 |
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 Scopus92 Europe PMC76 |
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 Scopus162 Europe PMC129 |
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 Scopus187 Europe PMC149 |
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 Scopus272 Europe PMC212 |
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 Scopus1676 WoS1493 Europe PMC1306 |
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 Europe PMC17 |
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 Scopus291 Europe PMC229 |
2011 |
Kassahn, K. S., Waddell, N., & Grimmond, S. M. (2011). Sequencing transcriptomes in toto. Integrative Biology, 3(5), 522-528. DOI Scopus15 Europe PMC11 |
2011 |
Kassahn, K., Ragan, M., & Funder, J. (2011). Mineralocorticoid receptors: evolutionary and pathophysiological considerations. Endocrinology, 152(5), 1883-1890. DOI Scopus38 Europe PMC14 |
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 Scopus278 Europe PMC205 |
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 Scopus22 Europe PMC17 |
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 Scopus12 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 Scopus155 Europe PMC119 |
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 Scopus211 Europe PMC89 |
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 Scopus101 Europe PMC80 |
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 |
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 Scopus38 |
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 Scopus80 Europe PMC45 |
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 Scopus56 Europe PMC27 |
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 Scopus48 WoS46 |