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2026 Journal Article From genotype to outcome: Zygosity-specific insights in 63 cases of<i> CLPB</i>-related mitochondrial diseaseHeath, Oliver, Del Cano-Ochoa, Francisco, Baris, Safa, Carrozzo, Rosalba, Coman, David, Distelmaier, Felix, Ellaway, Carolyn, Feichtinger, Rene G., Finocchi, Andrea, Guerrero-Castillo, Sergio, Halligan, Rebecca, Hannibal, Iris, Kritzer, Amy, Lichter-Konecki, Uta, Merkevicius, Kajus, Panis, Bianca, Pitceathly, Robert D. S., Pizzamiglio, Chiara, Iwanicka-Pronicka, Katarzyna, Rahman, Shamima, Seltzer, Laurie, Siepermann, Meinolf, Tal, Galit, Wevers, Ron A., Zietkiewicz, Szymon, Ramon-Maiques, Santiago, Mayr, Johannes A. and Wortmann, Saskia B. (2026). From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease. Molecular Genetics and Metabolism, 147 (4) 109752. doi: 10.1016/j.ymgme.2026.109752 |
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2026 Journal Article Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated NeurodegenerationLynch, Matthew, Manoy, Sophie, Murray, Claire, Wallace, Geoff, Pereira, Nolette, Price, Ricky, Inwood, Anita, McGill, Jim and Coman, David (2026). Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated Neurodegeneration. JIMD Reports, 67 (2) e70066, 2. doi: 10.1002/jmd2.70066 |
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2026 Journal Article Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA DeficiencyManoy, Sophie, Minto, Tahlee, Demetriou, Kalliope, Lynch, Matthew, Selvanathan, Arthavan, Jardine, Luke, Lipke, Michelle, Bursle, Carolyn, Inwood, Anita, McGill, Jim and Coman, David (2026). Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency. JIMD Reports, 67 (2) e70076. doi: 10.1002/jmd2.70076 |
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2026 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 (2026). PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia. Journal of Clinical Investigation, 136 (1) e182100. doi: 10.1172/JCI187998 |
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2026 Journal Article The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse ModelRawlins, Lettie E., Iffland, Philip H., Page, John, Flessner, Rebecca Z., Elziny, Soad M., Sbornova, Irina, Babus, Janice K., Bruckmeier, Sophie R., Parikh, Ria, Verhoeven, Merel, Fasham, James, Leslie, Joseph S., Caswell, Richard, Ubeyratna, Nishanka, Wenger, Olivia, Scott, Ethan M., Schreiber, John, Syrbe, Steffen, Klabunde-Cherwon, Annick, Owens, Martina, Crosby, Andrew H., Baple, Emma L., Crino, Peter B., Seeley, Andrea, Rocha, Heather, Rudnick, Sabine, Schaatz, Ulrich, Haack, Tobias, Schwaibold, Eva ... Syrbe, Steffen (2026). The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model. Annals of Neurology ana.78159. doi: 10.1002/ana.78159 |
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2026 Journal Article SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrumLee, Eunhye, Sim, Seungmin, Choi, Hee-Jung, Liang, Eugene Y., Le, Carolyn, Bina, Roya, Cohen, Ryan, George, Elizabeth, Kim, Soo Yeon, Bhat, Gifty, Falsey, Erin, Sidlow, Richard, Clinard, Kristin, Ben-Shachar, Shay, England, Eleina, Menendez, Beatriz, Herman, Isabella, Nielsen, Shelly, Punetha, Jaya, Bhola, Priya, Hamm, J. Austin, Keeney, Megan A., Sitzman, Nike, Berger, Sara, Mehta, Lakshmi, Conn, Alison J., Downie, Lilian, Ashfaq, Myla, Northrup, Hope ... Argilli, Emanuela (2026). SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum. Human Molecular Genetics, 35 (4) ddag003. doi: 10.1093/hmg/ddag003 |
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2026 Journal Article Childhood motor speech disorders: who to prioritise for genetic testingVan Niel, Halianna, Lauretta, Mariana, Baker, Emma, O’Donnell, Lorraine, Boulton, Charlotte, Brenchley, Celia, Coman, David, Michellis, Evyenia, Goel, Himanshu, Thompson, Geoff, Webster, Richard, Paxton, Georgia, Stark, Zornitza, Scheffer, Ingrid E., Hildebrand, Michael S., Amor, David J. and Morgan, Angela T. (2026). Childhood motor speech disorders: who to prioritise for genetic testing. European Journal of Human Genetics PMID 9302235. doi: 10.1038/s41431-025-01993-9 |
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2026 Journal Article Holocarboxylase synthetase deficiency: a second case report with neonatal cholestatic liver diseaseManoy, Sophie, Murray, Claire, Lynch, Matthew, Minto, Tahlee, Choo, Kelvin, Bursle, Carolyn, Lipke, Michelle, McGill, Jim, Inwood, Anita and Coman, David (2026). Holocarboxylase synthetase deficiency: a second case report with neonatal cholestatic liver disease. Journal of Inherited Metabolic Disease Reports, 67 (1) e70051. doi: 10.1002/jmd2.70051 |
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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, 1-7. doi: 10.1016/j.dnarep.2025.103907 |
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2025 Conference Publication The Australian Genomic Health Alliance (AGHA) Mitochondrial Flagship:delivering mitochondrial disease diagnoses nationallyRius, Rocio, Compton, Alison, Baker, Naomi, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Bratkovic, Drago, Coman, David, Delatycki, Martin, Ellaway, Carolyn, Fahey, Michael, Fletcher, Janice, Frazier, Ann, Ghaoui, Roula, Goranitis, Ilias, Hock, Daniella, Kava, Maina, Lake, Nicole, Lamont, Phillipa, Lee, Joy, McGill, Jim, Panetta, Julie, Phillips, Liza, Ryan, Michael, Smith, Nicholas, Stroud, David, Tchan, Michel, Wallis, Mathew, Welch, AnneMarie, Wools, Christine ... Christodoulou, John (2025). The Australian Genomic Health Alliance (AGHA) Mitochondrial Flagship:delivering mitochondrial disease diagnoses nationally. 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 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, 135 (22) e182100, 1-18. doi: 10.1172/jci182100 |
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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), 1523-1528. doi: 10.1111/jpc.70164 |
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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 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 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. doi: 10.1186/s13073-025-01467-z |
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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 |
