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2025 Conference Publication From Newborn Screening to Functional Insight: <i>SMN1</i> VUS studies in zebrafish supported therapeutic decisionsWirth, Brunhilde, Stringer, Brett W., Zhang, Yougang, Taghipour-Sheshdeh, Afsaneh, Zetzsche, Sebastian, Piano, Valentina, Fuhrmann, Nico, Becker, Jutta, Karakaya, Mert, Goh, Shuxiang, Koelbel, Heike, Farrar, Michelle and Giacomotto, Jean (2025). From Newborn Screening to Functional Insight: SMN1 VUS studies in zebrafish supported therapeutic decisions. 58th Conference of the European-Society-of-Human-Genetics (ESHG), Milan Italy, May 24-27, 2025. LONDON: SPRINGERNATURE. |
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2025 Conference Publication Selective modulation of voltage-gated sodium channels on motor neurons as a therapeutic strategy for amyotrophic lateral sclerosisAI Muller, Jessica, Kanjhan, Refik, Tran, Van, Kotapati, Charan, Thakre, Prajwal P., Bellingham, Mark C., Giacomotto, Jean and Cardoso, Fernanda C. (2025). Selective modulation of voltage-gated sodium channels on motor neurons as a therapeutic strategy for amyotrophic lateral sclerosis. The Pan-Asian Consortium for Treatment and Research in ALS (PACTALS), Melbourne, VIC Australia, 7-9 September 2025. |
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2025 Conference Publication False-positive results in 5q-SMA newborn screening: SMN1 VUS studies in zebrafish support therapeutic decisionKölbel, H., Wirth, B., Stringer, B., Zhang, Y., Taghipour-Sheshdeh, A., Zetzsche, S., Piano, V., Fuhrmann, N., Becker, J., Karakaya, M., Goh, S., Giacomotto, J. and Farrar, M. (2025). False-positive results in 5q-SMA newborn screening: SMN1 VUS studies in zebrafish support therapeutic decision. 30th World Muscle Society Congress, Vienna, Austria, 7-11 October 2025. London, United Kingdom: Elsevier. doi: 10.1016/j.nmd.2025.105625 |
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2020 Conference Publication Re-evaluating the nirvana cabal deployed by piscivorous cone snailsDutt, Mriga, Giacomotto, Jean, Ragnarsson, Lotten, Andersson, Asa, Brust, Andreas, Deakan, Zoltan, Alewood, Paul F. and Lewis, Richard J. (2020). Re-evaluating the nirvana cabal deployed by piscivorous cone snails. 20th World Congress of the International Society on Toxinology, Buenos Aires, Argentina, 8-13 September 2019. Oxford, United Kingdom: Elsevier. doi: 10.1016/j.toxicon.2019.10.044 |
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2019 Conference Publication First genome-wide association study of schizophrenia in an Indian population reveals a novel susceptibility locusPeriyasamy, Sathish, John, Sujit, Padmavati, Raman, Rajendren, Preeti, Thirunavukkarasu, Priyadarshini, Gratten, Jacob, Holliday, Elizabeth, Bakshi, Andrew, Jorde, Lynn, Brown, Matthew, Wray, Naomi, Suetani, Rachel, Giacomotto, Jean, Thara, Rangaswamy and Mowry, Bryan (2019). First genome-wide association study of schizophrenia in an Indian population reveals a novel susceptibility locus. 26th World Congress of Psychiatric Genetics (WCPG), Glasgow, Scotland, 11-15 October 2018. Amsterdam, The Netherlands: Elsevier . doi: 10.1016/j.euroneuro.2018.08.017 |
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2019 Conference Publication Characterization of δ-conotoxin Tx-VIA as selective T-type modulatorWang, Dan, Himaya, S. W. A., Giacomotto, Jean, Hasan, Mahadhi, Cardoso, Fernanda C. and Lewis, Richard J. (2019). Characterization of δ-conotoxin Tx-VIA as selective T-type modulator. Brisbane Pain Research Symposium: Multidisciplinary Perspectives & Therapeutics 2019, Brisbane, QLD, Australia, 29 November 2019. |
