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2022 Journal Article Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasiaSubramanian, Goutham Narayanan, Yeo, Abrey Jie, Gatei, Magtouf Hnaidi, Coman, David John and Lavin, Martin Francis (2022). Metabolic stress and mitochondrial dysfunction in ataxia-telangiectasia. Antioxidants, 11 (4) 653, 653. doi: 10.3390/antiox11040653 |
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2022 Journal Article WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature reviewAnderson, Erin, Aldridge, Melanie, Turner, Ross, Harraway, James, McManus, Sam, Stewart, Anna, Borzi, Peter, Trnka, Peter, Burke, John and Coman, David (2022). WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review. Pediatric Nephrology, 37 (10), 2369-2374. doi: 10.1007/s00467-022-05421-8 |
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2021 Journal Article PURA-related developmental and epileptic encephalopathy phenotypic and genotypic spectrumJohannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese ... Rubboli, Guido (2021). PURA-related developmental and epileptic encephalopathy phenotypic and genotypic spectrum. Neurology: Genetics, 7 (6) e613, e613. doi: 10.1212/NXG.0000000000000613 |
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2021 Journal Article Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendationsSue, Carolyn M., Balasubramaniam, Shanti, Bratkovic, Drago, Bonifant, Catherine, Christodoulou, John, Coman, David, Crawley, Karen, Edema‐Hildebrand, Fabienne, Ellaway, Carolyn, Ghaoui, Roula, Kava, Maina, Kearns, Lisa S., Lee, Joy, Liang, Christina, Mackey, David A., Murray, Sean, Needham, Merrilee, Rius, Rocio, Russell, Jacqui, Smith, Nicholas J.C., Thyagarajan, Dominic and Wools, Christine (2021). Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations. Internal Medicine Journal, 52 (1), 110-120. doi: 10.1111/imj.15505 |
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2021 Journal Article An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T)Yeo, A.J., Subramanian, G.N., Chong, K.L., Gatei, M., Parton, R.G., Coman, D. and Lavin, M.F. (2021). An anaplerotic approach to correct the mitochondrial dysfunction in ataxia-telangiectasia (A-T). Molecular Metabolism, 54 101354, 101354. doi: 10.1016/j.molmet.2021.101354 |
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2021 Journal Article Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variantPoole, Rebecca L., Curry, Philippa D. K., Marcinkute, Ruta, Brewer, Carole, Coman, David, Hobson, Emma, Johnson, Diana, Lynch, Sally Ann, Saggar, Anand, Searle, Claire, Scurr, Ingrid, Turnpenny, Peter D., Vasudevan, Pradeep and Tatton-Brown, Katrina (2021). Delineating the Smith-Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant. American Journal of Medical Genetics, Part A, 185 (8), 2445-2454. doi: 10.1002/ajmg.a.62350 |
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2021 Journal Article New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: management challenges and potential therapeutic approachesRyder, Bryony, Inbar-Feigenberg, Michal, Glamuzina, Emma, Halligan, Rebecca, Vara, Roshni, Elliot, Aoife, Coman, David, Minto, Tahlee, Lewis, Katherine, Schiff, Manuel, Vijay, Suresh, Akroyd, Rhonda, Thompson, Sue, MacDonald, Anita, Woodward, Abigail J. M., Gribben, Joanne. E. L., Grunewald, Stephanie, Belaramani, Kiran, Hall, Madeleine, van der Haak, Natalie, Devanapalli, Beena, Tolun, Adviye Ayper, Wilson, Callum and Bhattacharya, Kaustuv (2021). New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: management challenges and potential therapeutic approaches. Journal of Inherited Metabolic Disease, 44 (4), 903-915. doi: 10.1002/jimd.12371 |
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2021 Journal Article Application of genome sequencing from blood to diagnose mitochondrial diseasesRius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, Annemarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R. and Christodoulou, John (2021). Application of genome sequencing from blood to diagnose mitochondrial diseases. Genes, 12 (4) 607, 1-13. doi: 10.3390/genes12040607 |
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2021 Journal Article Triple P for parents of children with phenylketonuria: a nonrandomized trialMitchell, Amy E., Morawska, Alina, Kirby, Grace, McGill, James, Coman, David and Inwood, Anita (2021). Triple P for parents of children with phenylketonuria: a nonrandomized trial. Journal of Pediatric Psychology, 46 (2), 208-218. doi: 10.1093/jpepsy/jsaa100 |
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2021 Journal Article Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasiaYeo, Abrey J., Kok, Chong L., Gatei, Magtouf, Zou, Dongxiu, Stewart, Romal, Withey, Sarah, Wolvetang, Ernst, Parton, Robert G., Brown, Adam D., Kastan, Michael B., Coman, David and Lavin, Martin F. (2021). Impaired endoplasmic reticulum-mitochondrial signaling in ataxia-telangiectasia. iScience, 24 (1) 101972, 101972. doi: 10.1016/j.isci.2020.101972 |
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2021 Journal Article International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and managementAltassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques-da-Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut-Cegielska, Jolanta ... Morava, Eva (2021). International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management. Journal of Inherited Metabolic Disease, 44 (1), 148-163. doi: 10.1002/jimd.12286 |
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2020 Conference Publication The Australian Genomic Health Alliance Mitochondrial Flagship - A national approach to genomic diagnosticsThorburn, D., Baker, N., Balasubramaniam, S., Bratkovic, D., Coman, D., Compton, A., Delatycki, M., Ellaway, C., Fahey, M., Fletcher, J., Frazier, A., Ghaoui, R., Goel, H., Hock, D., Kava, M., Lake, N., Lamont, P., Lee, J., Panetta, J., Phillips, L., Rius, R., Ryan, M., Smith, N., Stroud, D., Tchan, M., Walsh, M., Wallis, M., Welch, A., Wools, C. and Christodoulou, J. (2020). The Australian Genomic Health Alliance Mitochondrial Flagship - A national approach to genomic diagnostics. 53rd European Society of Human Genetics (ESHG) Conference, Virtual, 6–9 June 2020. London, United Kingdom: Nature Publishing Group. |
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2020 Journal Article Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A)Kaur, Simranpreet, Van Bergen, Nicole J., Ben-Zeev, Bruria, Leonardi, Emanuela, Tan, Tiong Y., Coman, David, Kamien, Benjamin, White, Susan M., St John, Miya, Phelan, Dean, Rigbye, Kristin, Lim, Sze Chern, Torres, Michelle C., Marty, Melanie, Savva, Elena, Zhao, Teresa, Massey, Sean, Murgia, Alessandra, Gold, Wendy A. and Christodoulou, John (2020). Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A). Journal of Genetics and Genomics, 47 (10), 650-654. doi: 10.1016/j.jgg.2020.09.003 |
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2020 Journal Article A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networksDomingo, Deepti, Nawaz, Urwah, Corbett, Mark, Espinoza, Josh L., Tatton-Brown, Katrina, Coman, David, Wilkinson, Miles F., Gecz, Jozef and Jolly, Lachlan A. (2020). A synonymous UPF3B variant causing a speech disorder implicates NMD as a regulator of neurodevelopmental disorder gene networks. Human Molecular Genetics, 29 (15), 2568-2578. doi: 10.1093/hmg/ddaa151 |
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2020 Journal Article Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulationHildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Van Reyk, Olivia, Coleman, Matthew, Braden, Ruth O., Turner, Samantha, Rigbye, Kristin A., Boys, Amber, Barton, Sarah, Webster, Richard, Fahey, Michael, Saunders, Kerryn, Parry-Fielder, Bronwyn, Paxton, Georgia, Hayman, Michael, Coman, David, Goel, Himanshu, Baxter, Anne, Ma, Alan, Davis, Noni, Reilly, Sheena, Delatycki, Martin, Liégeois, Frederique J., Connelly, Alan, Gecz, Jozef, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E. ... Morgan, Angela T. (2020). Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. Neurology, 94 (20), e2148-e2167. doi: 10.1212/WNL.0000000000009441 |
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2020 Journal Article The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial diseaseRiley, Lisa G., Cowley, Mark J., Gayevskiy, Velimir, Minoche, Andre E., Puttick, Clare, Thorburn, David R., Rius, Rocio, Compton, Alison G., Menezes, Minal J., Bhattacharya, Kaustuv, Coman, David, Ellaway, Carolyn, Alexander, Ian E., Adams, Louisa, Kava, Maina, Robinson, Jacqui, Sue, Carolyn M., Balasubramaniam, Shanti and Christodoulou, John (2020). The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. Genetics in Medicine, 22 (7), 1254-1261. doi: 10.1038/s41436-020-0793-6 |
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2020 Conference Publication Quality of life of parents of children with phenylketonuria (PKU): Relationships with child behaviour and parenting indicatorsEtel, E., Morawska, A., Mitchell, A., Kirby, G., Inwood, A. and Coman, D. (2020). Quality of life of parents of children with phenylketonuria (PKU): Relationships with child behaviour and parenting indicators. Helping Families Change Conference, Brisbane, QLD Australia, 5 -7 February 2020. |
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2020 Journal Article Behçet disease-like symptoms with a novel COPA mutationAnderson, E., Hatch, J., Cardinal, J., Langguth, D. and Coman, D. (2020). Behçet disease-like symptoms with a novel COPA mutation. Case Reports in Genetics, 2020, 1-4. doi: 10.1155/2020/8414857 |
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2020 Journal Article Hypoglycemia in CDG patients due to PMM2 mutations: follow up on hyperinsulinemic patientsMoravej, Hossein, Altassan, Ruqaiah, Jaeken, Jaak, Enns, Gregory M., Ellaway, Carolyn, Balasubramaniam, Shanti, De Lonlay, Pascale, Coman, David, Mercimek-Andrews, Saadet, Witters, Peter and Morava, Eva (2020). Hypoglycemia in CDG patients due to PMM2 mutations: follow up on hyperinsulinemic patients. JIMD Reports, 51 (1), 76-81. doi: 10.1002/jmd2.12085 |
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2019 Journal Article Genetic abnormalities in a large cohort of Coffin–Siris syndrome patientsSekiguchi, Futoshi, Tsurusaki, Yoshinori, Okamoto, Nobuhiko, Teik, Keng Wee, Mizuno, Seiji, Suzumura, Hiroshi, Isidor, Bertrand, Ong, Winnie Peitee, Haniffa, Muzhirah, White, Susan M., Matsuo, Mari, Saito, Kayoko, Phadke, Shubha, Kosho, Tomoki, Yap, Patrick, Goyal, Manisha, Clarke, Lorne A., Sachdev, Rani, McGillivray, George, Leventer, Richard J., Patel, Chirag, Yamagata, Takanori, Osaka, Hitoshi, Hisaeda, Yoshiya, Ohashi, Hirofumi, Shimizu, Kenji, Nagasaki, Keisuke, Hamada, Junpei, Dateki, Sumito ... Matsumoto, Naomichi (2019). Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients. Journal of Human Genetics, 64 (12), 1173-1186. doi: 10.1038/s10038-019-0667-4 |
