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2025 Journal Article Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseasesHock, Daniella H., Caruana, Nikeisha J., Semcesen, Liana N., Lake, Nicole J., Formosa, Luke E., Amarasekera, Sumudu S. C., Stait, Tegan, Tregoning, Simone, Frajman, Leah E., Bournazos, Adam M., Robinson, David R. L., Ball, Megan, Reljic, Boris, Ryder, Bryony, Wallis, Mathew J., Vasudevan, Anand, Beck, Cara, Peters, Heidi, Lee, Joy, Tan, Natalie B., Freckmann, Mary-Louise, Harris, Madeleine, Martin, Ellenore M., McGrath, Pauline, Atthow, Catherine, Elbaum, Yoni, MacArthur, Daniel G., Balasubramaniam, Shanti, Siira, Stefan J. ... Stroud, David A. (2025). Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Genome Medicine, 17 (1) 58, 1. doi: 10.1186/s13073-025-01467-z |
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2025 Journal Article Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025Coman, David, Jeggo, Penny and Lavin, Martin (2025). Lets talk about ataxia-telangiectasia: Meeting report of the AT clinical research conference June 2025. DNA Repair, 155 103907, 103907. doi: 10.1016/j.dnarep.2025.103907 |
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2025 Journal Article PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasiaMasson, Aymeric, Paccaud, Julien, Orefice, Martina, Colin, Estelle, Mäkitie, Outi, Cormier-Daire, Valérie, Relator, Raissa, Ghosh, Sourav, Strub, Jean-Marc, Schaeffer-Reiss, Christine, Marcelis, Carlo, Koolen, David A., Pfundt, Rolph, de Boer, Elke, Vissers, Lisenka E.L.M., Gardeitchik, Thatjana, Aarts, Lonneke A.M., Rinne, Tuula, Terhal, Paulien A., Verbeek, Nienke E., Zuurbier, Linda C., Plomp, Astrid S., Wessels, Marja W., de Man, Stella A., Bouman, Arjan, Bird, Lynne M., Saadeh-Haddad, Reem, Guillen Sacoto, Maria J., Person, Richard ... Vitobello, Antonio (2025). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. Journal of Clinical Investigation. doi: 10.1172/jci182100 |
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2025 Conference Publication Structural variants (SVs) underlying neurogenetic and neuromuscular diseasesRavenscroft, G., Scriba, C., Folland, C., Bryen, S., Weisburd, B., Monahan, G., Rick, A., Rodrigues, M., Corbett, M., Gecz, J., Davis, M., Ashton, C., Coman, D., Yau, W., Roxburgh, R., Lamont, P. and Laing, N. (2025). Structural variants (SVs) underlying neurogenetic and neuromuscular diseases. 30th World Muscle Society Congress, Vienna, Austria, 7-11 October 2025. London, United Kingdom: Elsevier. doi: 10.1016/j.nmd.2025.105769 |
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2025 Journal Article Massively Parallel Sequencing: Successes, Limitations and the Future for Inborn Errors of MetabolismManoy, Sophie, McGrath, Pauline, Smith, Sally, Swan, Lauren, Spicer, Janette, Atthow, Catherine, Somerville, Jesse, Elliott, Aoife, O'Neill, Sara, Roberts, Rhiannon, Allen, Laura, Ebzery, Camron, Boon, Melanie, Bursle, Carolyn, Lipke, Michelle, Lynch, Matthew, Inwood, Anita and Coman, David (2025). Massively Parallel Sequencing: Successes, Limitations and the Future for Inborn Errors of Metabolism. Journal of Paediatrics and Child Health, 61 (9) jpc.70164, 1523-1528. doi: 10.1111/jpc.70164 |
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2025 Journal Article Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosisLynch, Matthew, Manoy, Sophie, Sly, Peter D., Wainwright, Claire E., Wolvetang, Ernst, Feenstra, John E., Dowling, Jason, Ware, Robert S., Patel, Maharshi S., Hermith-Ramirez, Diana, Vogel, Adam, Preece, Kahn, Zappala, Tania, Dai, Shuan, Webber, Ann, Yeo, Abrey, Subramanian, Goutham, Rao, Geetha, Ma, Cindy S., Jose, Sara, Gatei, Magtouf, Xin, Bowen, Sandona, Nicoletta, Lewindon, Peter, Sinclair, Katherine G., Nayler, Sam, Lavin, Martin F. and Coman, David J. (2025). Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis. eBioMedicine, 118 105840, 1-17. doi: 10.1016/j.ebiom.2025.105840 |
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2025 Journal Article Biomarkers in Ataxia-Telangiectasia: a systematic reviewTiet, M. Y., Guțu, B.-I., Springall-Jeggo, P., Coman, D., Willemsen, M., Van Os, N., Doria, M., Donath, H., Schubert, R., Dineen, R. A., Biagiotti, S., Prayle, A. P., Group, A. T. Biomarker Working, Hensiek, A. E. and Horvath, R. (2025). Biomarkers in Ataxia-Telangiectasia: a systematic review. Journal of Neurology, 272 (2) 110, 110-2. doi: 10.1007/s00415-024-12766-7 |
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2025 Journal Article The Australian Genomics Mitochondrial Flagship: a national program delivering mitochondrial diagnosesRius, Rocio, Compton, Alison G., Baker, Naomi L., Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kirsten, Boughtwood, Tiffany, Braithwaite, Jeffrey, Bratkovic, Drago, Bray, Alessandra, Brion, Marie-Jo, Burke, Jo, Casauria, Sarah, Chong, Belinda, Coman, David, Cowie, Shannon, Cowley, Mark, de Silva, Michelle G., Delatycki, Martin B., Edwards, Samantha, Ellaway, Carolyn, Fahey, Michael C., Finlay, Keri, Fletcher, Janice, Frajman, Leah E., Frazier, Ann E., Gayevskiy, Velimir, Ghaoui, Roula ... Thorburn, David R. (2025). The Australian Genomics Mitochondrial Flagship: a national program delivering mitochondrial diagnoses. Genetics in Medicine, 27 (1) 101271, 1-12. doi: 10.1016/j.gim.2024.101271 |
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2025 Journal Article The Type of Follicle-Stimulating Hormone Medication Given for In Vitro Fertilization Impacts Oocyte Retrieval: A Systematic Review and Meta-AnalysisMichael, Toni J.F., Kirubakaran, Ranita, Parab, Tanay, Wang, Rui, Grosser, Mark, Vollenhoven, Beverley J., Smith, Vinayak, Stocker, Sophie L., Vollenhoven, Beverley, Agresta, Franca, Bi, Mian, Birru, Emanuel, Coman, David, Devereaux, Nicholas, Gardner, David, Grosser, Mark, Hatamosa, Grant, Horta, Fabrizzio, Lin, Hua, Listijono, David, Sacks, Gavin, Smith, Vinayak, Stern, Kate, Stocker, Sophie, Tipper, Steven, Venter, Deon and Wang, Rui (2025). The Type of Follicle-Stimulating Hormone Medication Given for In Vitro Fertilization Impacts Oocyte Retrieval: A Systematic Review and Meta-Analysis. Clinical Pharmacology and Therapeutics, 118 (4) cpt.70014, 790-802. doi: 10.1002/cpt.70014 |
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2024 Journal Article Urinary chloride excretion in critical illness and acute kidney injury: a paediatric hypothesis-generating cohort study post cardiopulmonary bypass surgeryMattke, Adrian C., Johnson, Kerry E., Ariyawansa, Krishanti, Trnka, Peter, Venugopal, Prem S., Coman, David, Schibler, Andreas and Gibbons, Kristen (2024). Urinary chloride excretion in critical illness and acute kidney injury: a paediatric hypothesis-generating cohort study post cardiopulmonary bypass surgery. Anaesthesia and Intensive Care, 52 (6) 310057X241265119, 1-10. doi: 10.1177/0310057X241265119 |
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2024 Journal Article RNA variant assessment using transactivation and transdifferentiationNicolas-Martinez, Emmylou C., Robinson, Olivia, Pflueger, Christian, Gardner, Alison, Corbett, Mark A., Ritchie, Tarin, Kroes, Thessa, van Eyk, Clare L., Scheffer, Ingrid E., Hildebrand, Michael S., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., Azmanov, Dimitar N. ... Cooper, Sandra T. (2024). RNA variant assessment using transactivation and transdifferentiation. American Journal of Human Genetics, 111 (8), 1673-1699. doi: 10.1016/j.ajhg.2024.06.018 |
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2024 Journal Article Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, AustraliaDemetriou, Kalliope, Nisbet, Janelle, Coman, David, Ewing, Adam D., Phillips, Liza, Smith, Sally, Lipke, Michelle, Inwood, Anita, Spicer, Janette, Atthow, Catherine, Wilgen, Urs, Robertson, Thomas, McWhinney, Avis, Swenson, Rebecca, Espley, Brayden, Snowdon, Brianna, McGill, James J. and Summers, Kim M. (2024). Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia. Molecular Genetics and Metabolism, 142 (4) 108516, 1-14. doi: 10.1016/j.ymgme.2024.108516 |
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2024 Journal Article De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeChen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A. ... Whiffin, Nicola (2024). De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature, 632 (8026), 832-840. doi: 10.1038/s41586-024-07773-7 |
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2024 Journal Article Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific populationBernhardt, Isaac, Frajman, Leah E., Ryder, Bryony, Andersen, Erik, Wilson, Callum, McKeown, Colina, Anderson, Tim, Coman, David, Vincent, Andrea L., Buchanan, Christina, Roxburgh, Richard, Pitt, James, De Hora, Mark, Christodoulou, John, Thorburn, David R., Wilson, Francessa, Drake, Kylie M., Leask, Megan, Yardley, Anne-Marie, Merriman, Tony, Robertson, Stephen, Compton, Alison G. and Glamuzina, Emma (2024). Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population. Molecular Genetics and Metabolism, 142 (3) 108508, 1-10. doi: 10.1016/j.ymgme.2024.108508 |
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2024 Journal Article Reduced protein import via TIM23 SORT drives disease pathology in TIMM50-associated mitochondrial diseaseCrameri, Jordan J., Palmer, Catherine S., Stait, Tegan, Jackson, Thomas D., Lynch, Matthew, Sinclair, Adriane, Frajman, Leah E., Compton, Alison G., Coman, David, Thorburn, David R., Frazier, Ann E. and Stojanovski, Diana (2024). Reduced protein import via TIM23 SORT drives disease pathology in TIMM50-associated mitochondrial disease. Molecular and Cellular Biology, 44 (6), 226-244. doi: 10.1080/10985549.2024.2353652 |
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2024 Journal Article Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disabilityPérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark ... Callewaert, Bert (2024). Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability. American Journal of Human Genetics, 111 (3), 509-528. doi: 10.1016/j.ajhg.2024.01.013 |
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2024 Journal Article Brain function in classic galactosemia, a galactosemia network (GalNet) members reviewPanis, Bianca, Vos, E. Naomi, Barić, Ivo, Bosch, Annet M., Brouwers, Martijn C. G. J., Burlina, Alberto, Cassiman, David, Coman, David J., Couce, María L., Das, Anibh M., Demirbas, Didem, Empain, Aurélie, Gautschi, Matthias, Grafakou, Olga, Grunewald, Stephanie, Kingma, Sandra D. K., Knerr, Ina, Leão-Teles, Elisa, Möslinger, Dorothea, Murphy, Elaine, Õunap, Katrin, Pané, Adriana, Paci, Sabrina, Parini, Rossella, Rivera, Isabel A., Scholl-Bürgi, Sabine, Schwartz, Ida V. D., Sdogou, Triantafyllia, Shakerdi, Loai A. ... Rubio-Gozalbo, M. Estela (2024). Brain function in classic galactosemia, a galactosemia network (GalNet) members review. Frontiers in Genetics, 15 1355962, 1-11. doi: 10.3389/fgene.2024.1355962 |
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2024 Conference Publication Deformation-aware GAN for medical image synthesis with substantially misaligned pairsXin, Bowen, Young, Tony, Wainwright, Claire E., Blake, Tamara, Lebrat, Leo, Gaass, Thomas, Benkert, Thomas, Stemmer, Alto, Coman, David and Dowling, Jason (2024). Deformation-aware GAN for medical image synthesis with substantially misaligned pairs. Medical Imaging with Deep Learning, Paris, France, 3-5 July 2024. ML Research Press. |
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2023 Journal Article Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international expertsNeves, Renata, De Dios Perez, Blanca, Panek, Rafal, Jagani, Sumit, Wilne, Sophie, Bhatt, Jayesh M., Caputi, Caterina, Cirillo, Emilia, Coman, David J., Dückers, Gregor, Gilbert, Donald L., Kay Koenig, Mary, Mansour, Lobna, McDermott, Elizabeth, Pauni, Micaela, Pignata, Claudio, Perlman, Susan L., Porras, Oscar, Betina Porto, Mariela, Schon, Katherine, Soler‐Palacin, Pere, Nick Russo, Sam, Takagi, Masatoshi, Tischkowitz, Marc, Wainwright, Claire, Dandapani, Madhumita, Glazebrook, Cristine, Suri, Mohnish, Whitehouse, William P. and Dineen, Robert A. (2023). Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts. Cancer Medicine, 12 (13), 14663-14673. doi: 10.1002/cam4.6075 |
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2023 Journal Article Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsVogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel ... Wortmann, Saskia (2023). Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genetics in Medicine, 25 (6) 100314, 1-16. doi: 10.1016/j.gim.2022.09.015 |
