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2026 Journal Article Antenatal presentation of MRPS22-related mitochondrial disease confirmed with rapid proteomicsSemcesen, Liana N., Ball, Megan, Hock, Daniella H., Kaye, Juliet, Woods, Aimee, De Jong, Lucas, Thorburn, David R., Filipovska, Aleksandra, Ryan, Michael T., Stroud, David A., Stojanovski, Diana, Coman, David, Murray, Sean, Davis, Ryan L., Christodoulou, John, Sallevelt, Suzanne C. E. H., Ghaoui, Roula, Simons, Cas, Siira, Stefan J., Balasubramaniam, Shanti, Compton, Alison G., MacArthur, Daniel G., Lake, Nicole J., Bratkovic, Drago, Lee, Joy, Kava, Maina, Samarasinghe, Amanda, Elbaum, Yoni, Atthow, Catherine ... Liebelt, Jan (2026). Antenatal presentation of MRPS22-related mitochondrial disease confirmed with rapid proteomics. JIMD Reports, 67 (3) e70092, 1-9. doi: 10.1002/jmd2.70092 |
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2026 Journal Article Changes in Child Behaviour Following a Brief Parenting Intervention (Triple P) for Families of Children with Phenylketonuria (PKU): A Case SeriesKirby, Grace, Morawska, Alina, Mitchell, Amy E., McGill, James, Coman, David and Inwood, Anita (2026). Changes in Child Behaviour Following a Brief Parenting Intervention (Triple P) for Families of Children with Phenylketonuria (PKU): A Case Series. Behavior Modification 01454455261421147. doi: 10.1177/01454455261421147 |
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2026 Journal Article Ophthalmic and Oculomotor Characteristics in Ataxia-Telangiectasia: A Clinical Cohort Study using Video-OculographyWebber, Ann L., Abel, Larry, Neilson, Heidi Rose, Coman, David, Lavin, Martin, Lynch, Matt, Ware, Robert S. and Dai, Shuan (2026). Ophthalmic and Oculomotor Characteristics in Ataxia-Telangiectasia: A Clinical Cohort Study using Video-Oculography. Ophthalmic and Physiological Optics, 1-8. doi: 10.1007/s44402-026-00075-7 |
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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, 109752. doi: 10.1016/j.ymgme.2026.109752 |
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2026 Journal Article Heritability of Long-Term Complications in Classic GalactosemiaGarrett, Olivia S., Smith, Nicole H., Cutler, David J., Wu, Yuhan, Knerr, Ina, Pereira, Doireann, Rubio-Gozalbo, M. Estela, Vos, E. Naomi, Harrison, Megan, Pappas, Kara, Coman, David, Stepien, Karolina M., Karall, Daniela, Margreitter, Julian, Scholl-Burgi, Sabine, Heisler, Madison A., Lam, Christina, Mills, Maria R., Belanger, Emilia, Yu, Andrea C. and Fridovich-Keil, Judith L. (2026). Heritability of Long-Term Complications in Classic Galactosemia. Journal of Inherited Metabolic Disease, 49 (3) e70181. doi: 10.1002/jimd.70181 |
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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, e70076. doi: 10.1002/jmd2.70076 |
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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 A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From <scp>LPIN1</scp> Deficiency and <scp>PPA2</scp> Deficiency in QueenslandManoy, Sophie, Smith, Sally, Smith, Marita, Atthow, Catherine, Spicer, Janette, Lynch, Matthew, Lipke, Michelle, McEniery, Julie A., Coman, David, Inwood, Anita, McGill, Jim and Bursle, Carolyn (2026). A Case Series of Sudden Death in Children Aged 12 Months to 4 Years From LPIN1 Deficiency and PPA2 Deficiency in Queensland. Journal of Paediatrics and Child Health jpc.70296. doi: 10.1111/jpc.70296 |
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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, 99 (5) ana.78159, 1287-1302. 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, 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 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 |
