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2026 Journal Article SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutionsWirth, Brunhilde, Das, Joyosmita, Kölbel, Heike, Goh, Shuxiang, Farrar, Michelle A., Piano, Valentina, Zetzsche, Sebastian, Fuhrmann, Nico, Becker, Jutta, Karakaya, Mert, Zhang, Yougang, Cao, Yuqing, Taghipour-Sheshdeh, Afsaneh, Stringer, Brett W. and Giacomotto, Jean (2026). SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions. American Journal of Human Genetics, 113 (3), 627-635. doi: 10.1016/j.ajhg.2026.01.012 |
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2026 Other Outputs C. elegans, un outil de criblage pour la recherche de traitements contre les maladies rares, and Giacomotto, Jean (2026). C. elegans, un outil de criblage pour la recherche de traitements contre les maladies rares. doi: 10.70675/01f31096zdc34z4639zbfc6z8ff80973680c |
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2025 Journal Article Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMAStringer, Brett W., Zhang, Yougang, Taghipour-Sheshdeh, Afsaneh, Goh, Shuxiang, Kölbel, Heike, Farrar, Michelle A., Wirth, Brunhilde and Giacomotto, Jean (2025). Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA. EMBO Molecular Medicine, 18 (1), 41-54. doi: 10.1038/s44321-025-00355-8 |
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2025 Conference Publication Selective modulation of voltage-gated sodium channels as a therapeutic strategy for amyotrophic lateral sclerosisMuller, Jessica A.I., 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 as a therapeutic strategy for amyotrophic lateral sclerosis. Cellular and Molecular Advances in Neurodegeneration, Hobart, TAS, Australia, 4-5 December 2025. |
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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 Journal Article Isolation and biological evaluation of human tyrosinase inhibitors from the fruit of Xanthium strumarium LShi, Gengxuan, Lu, Yaoying, Zhang, Yougang, Zheng, Ke, Giacomotto, Jean, Tonissen, Kathryn F. and Feng, Yunjiang (2025). Isolation and biological evaluation of human tyrosinase inhibitors from the fruit of Xanthium strumarium L. Molecules, 30 (18) 3689, 1-14. doi: 10.3390/molecules30183689 |
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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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2025 Conference Publication Voltage-gated sodium channels at the nexus of neuropathology and therapy in ALSCardoso, Fernanda C., Muller, Jessica A.I., Kanjhan, Refik, Tran, Van, Kotapati, Charan, Bellingham, Mark C. and Giacomotto, Jean (2025). Voltage-gated sodium channels at the nexus of neuropathology and therapy in ALS. Gordon Research Conference Amyotrophic Lateral Sclerosis (ALS) and Related Motor Neuron Diseases, Portland, ME, United States, 27 July–1 August 2025. |
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2025 Journal Article Cre-Lox miRNA-delivery technology optimized for inducible microRNA and gene-silencing studies in zebrafishGuo, Fangfei, Tromp, Alisha, Wang, Haitao, Hall, Thomas E. and Giacomotto, Jean (2025). Cre-Lox miRNA-delivery technology optimized for inducible microRNA and gene-silencing studies in zebrafish. Nucleic Acids Research, 53 (2) gkaf004. doi: 10.1093/nar/gkaf004 |
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2024 Journal Article Clinical and molecular spectrum of autosomal recessive CA8‐related cerebellar ataxiaKaiyrzhanov, Rauan, Ortigoza‐Escobar, Juan Darío, Stringer, Brett W., Ganieva, Manizha, Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Macaya, Alfons, Laner, Andreas, Onbool, Enas, Al‐Shammari, Randa, Al‐Owain, Mohammed, Deconinck, Nicolas, Vilain, Catheline, Dontaine, Pauline, Self, Eleanor, Akram, Rabia, Hussain, Ghulam, Baig, Shahid Mahmood, Iqbal, Javed, Salpietro, Vincenzo, Neshatdoust, Maedeh, Kasiri, Mahboubeh, Yesil, Gozde, Uygur, Turkan, Pysden, Karen, Berry, Ian R., Alves, Cesar Augusto, Giacomotto, Jean, Houlden, Henry and Maroofian, Reza (2024). Clinical and molecular spectrum of autosomal recessive CA8‐related cerebellar ataxia. Movement Disorders, 39 (6), 983-995. doi: 10.1002/mds.29754 |
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2023 Journal Article Cell surface plasticity in response to shape change in the whole organismHall, Thomas E., Ariotti, Nicholas, Lo, Harriet P., Rae, James, Ferguson, Charles, Martel, Nick, Lim, Ye-Wheen, Giacomotto, Jean and Parton, Robert G. (2023). Cell surface plasticity in response to shape change in the whole organism. Current Biology, 33 (19), 4276-4284. doi: 10.1016/j.cub.2023.08.068 |
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2023 Journal Article Optimising the zebrafish Cre/Lox toolbox. Codon improved iCre, new gateway tools, Cre protein and guidelinesTromp, Alisha, Wang, Haitao, Hall, Thomas E., Mowry, Bryan and Giacomotto, Jean (2023). Optimising the zebrafish Cre/Lox toolbox. Codon improved iCre, new gateway tools, Cre protein and guidelines. Frontiers in Physiology, 14 1221310, 1-10. doi: 10.3389/fphys.2023.1221310 |
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2022 Journal Article Brain-wide visual habituation networks in wild type and fmr1 zebrafishMarquez-Legorreta, Emmanuel, Constantin, Lena, Piber, Marielle, Favre-Bulle, Itia A., Taylor, Michael A., Blevins, Ann S., Giacomotto, Jean, Bassett, Dani S., Vanwalleghem, Gilles C. and Scott, Ethan K. (2022). Brain-wide visual habituation networks in wild type and fmr1 zebrafish. Nature Communications, 13 (1) 895. doi: 10.1038/s41467-022-28299-4 |
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2022 Journal Article Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1Restuadi, Restuadi, Steyn, Frederik J., Kabashi, Edor, Ngo, Shyuan T., Cheng, Fei-Fei, Nabais, Marta F., Thompson, Mike J., Qi, Ting, Wu, Yang, Henders, Anjali K., Wallace, Leanne, Bye, Chris R., Turner, Bradley J., Ziser, Laura, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Schultz, David, Kiernan, Matthew C., van Rheenen, Wouter, van den Berg, Leonard H., Veldink, Jan H., Ophoff, Roel, Gusev, Alexander, Zaitlen, Noah, McRae, Allan F., Henderson, Robert D., Wray, Naomi R., Giacomotto, Jean and Garton, Fleur C. (2022). Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1. Genome Medicine, 14 (1) 7, 7. doi: 10.1186/s13073-021-01006-6 |
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2021 Journal Article Cavin4 interacts with Bin1 to promote T-tubule formation and stability in developing skeletal muscleLo, Harriet P., Lim, Ye-Wheen, Xiong, Zherui, Martel, Nick, Ferguson, Charles, Ariotti, Nicholas, Giacomotto, Jean, Rae, James, Floetenmeyer, Matthias, Moradi, Shayli Varasteh, Gao, Ya, Tillu, Vikas A., Xia, Di, Wang, Huang, Rahnama, Samira, Nixon, Susan J., Bastiani, Michele, Day, Ryan D., Smith, Kelly A., Palpant, Nathan J., Johnston, Wayne A., Alexandrov, Kirill, Collins, Brett M., Hall, Thomas E. and Parton, Robert G. (2021). Cavin4 interacts with Bin1 to promote T-tubule formation and stability in developing skeletal muscle. Journal of Cell Biology, 220 (12) e201905065. doi: 10.1083/jcb.201905065 |
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2021 Journal Article Pipeline for generating stable large genomic deletions in zebrafish, from small domains to whole gene excisionsTromp, Alisha, Robinson, Kate, Hall, Thomas E., Mowry, Bryan and Giacomotto, Jean (2021). Pipeline for generating stable large genomic deletions in zebrafish, from small domains to whole gene excisions. G3 Genes|Genomes|Genetics, 11 (12) jkab321. doi: 10.1093/g3journal/jkab321 |
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2021 Journal Article Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafishButti, Zoé, Pan, Yingzhou Edward, Giacomotto, Jean and Patten, Shunmoogum A. (2021). Reduced C9orf72 function leads to defective synaptic vesicle release and neuromuscular dysfunction in zebrafish. Communications Biology, 4 (1) 792, 1-16. doi: 10.1038/s42003-021-02302-y |
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2020 Journal Article Modular transient nanoclustering of activated β2-adrenergic receptors revealed by single-molecule tracking of conformation-specific nanobodiesGormal, Rachel S., Padmanabhan, Pranesh, Kasula, Ravikiran, Bademosi, Adekunle T., Coakley, Sean, Giacomotto, Jean, Blum, Ailisa, Joensuu, Merja, Wallis, Tristan P., Lo, Harriet P., Budnar, Srikanth, Rae, James, Ferguson, Charles, Bastiani, Michele, Thomas, Walter G., Pardon, Els, Steyaert, Jan, Yap, Alpha S., Goodhill, Geoffrey J., Hilliard, Massimo A., Parton, Robert G. and Meunier, Frédéric A. (2020). Modular transient nanoclustering of activated β2-adrenergic receptors revealed by single-molecule tracking of conformation-specific nanobodies. Proceedings of the National Academy of Sciences of the United States of America, 117 (48), 30476-30487. doi: 10.1073/pnas.2007443117 |
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2020 Journal Article Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directionsTromp, Alisha, Mowry, Bryan and Giacomotto, Jean (2020). Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directions. Molecular Psychiatry, 26 (3), 747-760. doi: 10.1038/s41380-020-00944-8 |
