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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 |
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2023 Journal Article Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015))Vogel, 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 ... Wortmannd, Saskia (2023). Erratum: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (Genetics in Medicine (2023) 25(6), (S1098360022009534), (10.1016/j.gim.2022.09.015)). Genetics in Medicine, 25 (6) 100828, 100828. doi: 10.1016/j.gim.2023.100828 |
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2023 Journal Article DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variantsVos, Niels, Reilly, Jack, Elting, Mariet W., Campeau, Philippe M., Coman, David, Stark, Zornitza, Tan, Tiong Yang, Amor, David J., Kaur, Simran, StJohn, Miya, Morgan, Angela T., Kamien, Benjamin A., Patel, Chirag, Tedder, Matthew L., Merla, Giuseppe, Prontera, Paolo, Castori, Marco, Muru, Kai, Collins, Felicity, Christodoulou, John, Smith, Janine, Zeev, Bruria Ben, Murgia, Alessandra, Leonardi, Emanuela, Esber, Natacha, Martinez-Monseny, Antonio, Casas-Alba, Didac, Wallis, Matthew, Mannens, Marcel ... Sadikovic, Bekim (2023). DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants. Epigenomics, 15 (6), 351-367. doi: 10.2217/epi-2023-0079 |
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2023 Journal Article Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentKaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie and Morgan, Angela T. (2023). Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry, 28 (4), 1-3. doi: 10.1038/s41380-022-01879-y |
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2022 Journal Article 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosisHertzog, Ashley, Selvanathan, Arthavan, Pandithan, Dinusha, Kim, Won-Tae, Kava, Maina P., Boneh, Avihu, Coman, David, Tolun, Adviye Ayper and Bhattacharya, Kaustuv (2022). 3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis. JIMD Reports, 63 (6), 568-574. doi: 10.1002/jmd2.12332 |
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2022 Journal Article Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutationsLeeson, Hannah C., Goh, Denise, Coman, David and Wolvetang, Ernst J. (2022). Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations. Stem Cell Research, 64 102917, 1-5. doi: 10.1016/j.scr.2022.102917 |
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2022 Journal Article Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain developmentKaspi, Antony, Hildebrand, Michael S., Jackson, Victoria E., Braden, Ruth, van Reyk, Olivia, Howell, Tegan, Debono, Simone, Lauretta, Mariana, Morison, Lottie, Coleman, Matthew J., Webster, Richard, Coman, David, Goel, Himanshu, Wallis, Mathew, Dabscheck, Gabriel, Downie, Lilian, Baker, Emma K., Parry-Fielder, Bronwyn, Ballard, Kirrie, Harrold, Eva, Ziegenfusz, Shaun, Bennett, Mark F., Robertson, Erandee, Wang, Longfei, Boys, Amber, Fisher, Simon E., Amor, David J., Scheffer, Ingrid E., Bahlo, Melanie and Morgan, Angela T. (2022). Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. Molecular Psychiatry, 28 (4), 1647-1663. doi: 10.1038/s41380-022-01764-8 |
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2022 Journal Article N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case reportSelvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David and McGill, Jim (2022). N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report. JIMD Reports, 63 (5), 420-424. doi: 10.1002/jmd2.12318 |
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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. |
