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2024 Journal Article Perinatal exposure to environmental chemicals that disrupt thyroid function can perturb testis developmentDraskau, Monica K., Strand, Ida W., Davila, Raul, Ballegaard, Anne-Sofie R., Pedersen, Mikael, Ramhøj, Louise, Rising, Sofie, Tran, Kieu-mi, Axelstad, Marta, Bowles, Josephine, Rosenmai, Anna K., Spiller, Cassy M. and Svingen, Terje (2024). Perinatal exposure to environmental chemicals that disrupt thyroid function can perturb testis development. Environmental Pollution, 363 125117, 125117. doi: 10.1016/j.envpol.2024.125117 |
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2024 Conference Publication How the Australian Functional Genomics Network (AFGN) contributes to improved patient careScott, Hamish S., Matotek, Ebony, Mattiske, Tessa, Bryson-Richardson, Robert J., Smyth, Ian, Gecz, Jozef, Christodoulou, John, Palpant, Nathan, Smith, Kelly, Warr, Coral, Bennetts, Bruce, Thomas, Paul, Bowles, Josephine, Hilliard, Massimo, Hime, Gary, Hool, Livia, Quinn, Leonie, Wolvetang, Ernst, Jamieson, Robyn, Baynam, Gareth, Dudding-Byth, Tracy, Tan, Tiong Yang, Milnes, Di, Wallis, Mathew, Palmer, Elizabeth, Patel, Chirag, Jones, Kristi, Tam, Patrick, Stark, Zornitza ... Sinclair, Andrew (2024). How the Australian Functional Genomics Network (AFGN) contributes to improved patient care. Pathology Update 2024, Adelaide, SA, Australia, 1-3 March 2024. Oxford, United Kingdom: Elsevier. doi: 10.1016/j.pathol.2023.12.084 |
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2024 Conference Publication Variants in SART3 cause a novel spliceosomopathy characterised by failure of testis development and neuronal defectsAyers, Katie, Eggers, Stefanie, Rollo, Ben, Smith, Katherine, Davidson, Nadia, Siddall, Nicole, Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jorgensen, Anne, Schittenhelm, Ralf, Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David, Bahlo, Melanie, Oshlack, Alicia, O'Brien, Terence, Kwan, Patrick, Koopman, Peter, Hime, Gary ... Sinclair, Andrew (2024). Variants in SART3 cause a novel spliceosomopathy characterised by failure of testis development and neuronal defects. 56th Annual Conference of the European Society of Human Genetics (ESHG), Glasgow, Scotland, 10-13 June 2023. London, United Kingdom: Nature Publishing Group. |
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2023 Journal Article Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsAyers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R. ... Sinclair, Andrew H. (2023). Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. Nature Communications, 14 (1) 3403, 1-21. doi: 10.1038/s41467-023-39040-0 |
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2023 Journal Article Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonizationBurnet, Guillaume, Feng, Chun‐Wei Allen, Cheung, Ka Man Fiona, Bowles, Josephine and Spiller, Cassy M. (2023). Generation and characterization of a Ddx4‐iCre transgenic line for deletion in the germline beginning at genital ridge colonization. genesis, 61 (1-2) e23511, e23511. doi: 10.1002/dvg.23511 |
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2023 Book Chapter Isolation and culture techniques for fetal mouse germ cellsBurnet, Guillaume, Bowles, Josephine and Spiller, Cassy M. (2023). Isolation and culture techniques for fetal mouse germ cells. Germline stem cells: methods and protocols. (pp. 221-231) edited by Michael Buszczak. New York, NY, United States: Humana Press. doi: 10.1007/978-1-0716-3259-8_13 |
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2022 Journal Article Instructing mouse germ cells to adopt a female fateSpiller, Cassy and Bowles, Josephine (2022). Instructing mouse germ cells to adopt a female fate. Sexual Development, 16 (5-6), 1-13. doi: 10.1159/000523763 |
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2022 Journal Article Deletion of NFIX results in defective progression through meiosis within the mouse testisDavila, Raul Ayala, Spiller, Cassy, Harkins, Danyon, Harvey, Tracey, Jordan, Philip W., Gronostajski, Richard M., Piper, Michael and Bowles, Josephine (2022). Deletion of NFIX results in defective progression through meiosis within the mouse testis. Biology of Reproduction, 106 (6), 1191-1205. doi: 10.1093/biolre/ioac049 |
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2022 Journal Article Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiencyNakagawa, Ryuichi, Takasawa, Kei, Gau, Maki, Tsuji-Hosokawa, Atsumi, Kawaji, Hideya, Murakawa, Yasuhiro, Takada, Shuji, Mikami, Masashi, Narumi, Satoshi, Fukami, Maki, Sreenivasan, Rajini, Maruyama, Tetsuo, Tucker, Elena J., Zhao, Liang, Bowles, Josephine, Sinclair, Andrew, Koopman, Peter, Hayashizaki, Yoshihide, Morio, Tomohiro and Kashimada, Kenichi (2022). Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency. Human Molecular Genetics, 31 (13), 2223-2235. doi: 10.1093/hmg/ddac023 |
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2022 Journal Article AOP Key Event Relationship report: Linking decreased retinoic acid levels with disrupted meiosis in developing oocytesKam Draskau, Monica, Ravn Ballegaard, Anne-Sofie, Ramhøj, Louise, Bowles, Josephine, Svingen, Terje and Spiller, Cassy M. (2022). AOP Key Event Relationship report: Linking decreased retinoic acid levels with disrupted meiosis in developing oocytes. Current Research in Toxicology, 3 100069, 1-8. doi: 10.1016/j.crtox.2022.100069 |
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2021 Journal Article WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesisHo, Uda Y., Feng, Chun-Wei Allen, Yeap, Yvonne Y., Bain, Amanda L., Wei, Zhe, Shohayeb, Belal, Reichelt, Melissa E., Homer, Hayden, Khanna, Kum Kum, Bowles, Josephine and Ng, Dominic C. H. (2021). WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis. Communications Biology, 4 (1) 645, 1-14. doi: 10.1038/s42003-021-02171-5 |
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2021 Journal Article Identification of regulatory elements required for Stra8 expression, in fetal ovarian germ cells of the mouseFeng, Chun-Wei, Burnet, Guillaume, Spiller, Cassy M., Cheung, Fiona Ka Man, Chawengsaksophak, Kallayanee, Koopman, Peter and Bowles, Josephine (2021). Identification of regulatory elements required for Stra8 expression, in fetal ovarian germ cells of the mouse. Development, 148 (5) dev194977, 1-13. doi: 10.1242/dev.194977 |
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2020 Journal Article CRIPTO and miR-371a-3p are serum biomarkers of testicular germ cell tumors and are detected in seminal plasma from azoospermic malesSpiller, Cassy M., Lobo, João, Boellaard, Willem P. A., Gillis, Ad J. M., Bowles, Josephine and Looijenga, Leendert H. J. (2020). CRIPTO and miR-371a-3p are serum biomarkers of testicular germ cell tumors and are detected in seminal plasma from azoospermic males. Cancers, 12 (3) 760, 760. doi: 10.3390/cancers12030760 |
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2020 Journal Article Developmental biology meets toxicology: contributing reproductive mechanisms to build adverse outcome pathwaysDraskau, Monica Kam, Spiller, Cassy M., Boberg, Julie, Bowles, Josephine and Svingen, Terje (2020). Developmental biology meets toxicology: contributing reproductive mechanisms to build adverse outcome pathways. Molecular Human Reproduction, 26 (2), 111-116. doi: 10.1093/molehr/gaaa001 |
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2019 Journal Article A simple, web-based repository for the management, access and analysis of micrographic imagesDavila, Raul Ayala, Harkins, Danyon, Currey, Laura, Fraser, James, Bowles, Josephine and Piper, Michael (2019). A simple, web-based repository for the management, access and analysis of micrographic images. Journal of Molecular Histology, 50 (6), 573-580. doi: 10.1007/s10735-019-09850-y |
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2019 Journal Article Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacqueline, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter and Sinclair, Andrew (2019). Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications, 10 (1) 3351, 3351. doi: 10.1038/s41467-019-11310-w |
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2019 Journal Article Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signalingNomura, Risa, Kashimada, Kenichi, Suzuki, Hitomi, Zhao, Liang, Tsuji-Hosokawa, Atsumi, Yagita, Hideo, Takagi, Masatoshi, Kanai, Yoshiakira, Bowles, Josephine, Koopman, Peter, Kanai-Azuma, Masami and Morio, Tomohiro (2019). Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling. Journal of Cell Science, 132 (8) 223768, jcs223768. doi: 10.1242/jcs.223768 |
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2019 Journal Article Gene editing of the multi-copy H2A.B gene and its importance for fertility 06 Biological Sciences 0604 Genetics Jin-Soo KimAnuar, Nur Diana, Kurscheid, Sebastian, Field, Matt, Zhang, Lei, Rebar, Edward, Gregory, Philip, Buchou, Thierry, Bowles, Josephine, Koopman, Peter, Tremethick, David J. and Soboleva, Tatiana A. (2019). Gene editing of the multi-copy H2A.B gene and its importance for fertility 06 Biological Sciences 0604 Genetics Jin-Soo Kim. Genome Biology, 20 (1) 23, 23. doi: 10.1186/s13059-019-1633-3 |
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2019 Book Chapter Sexually dimorphic germ cell identity in mammalsSpiller, Cassy and Bowles, Josephine (2019). Sexually dimorphic germ cell identity in mammals. Sex determination in vertebrates. (pp. 253-288) Maryland Heights, MO, United States: Academic Press. doi: 10.1016/bs.ctdb.2019.01.011 |
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2018 Journal Article Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacky, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter and Sinclair, Andrew (2018). Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. Nature Communications, 9 (1) 5319, 5319. doi: 10.1038/s41467-018-07784-9 |
