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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 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 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 |
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2019 Journal Article Psychosocial functioning in children with phenylketonuria: relationships between quality of life and parenting indicatorsMorawska, Alina, Mitchell, Amy E., Etel, Evren, Kirby, Grace, McGill, James, Coman, David and Inwood, Anita (2019). Psychosocial functioning in children with phenylketonuria: relationships between quality of life and parenting indicators. Child: Care, Health and Development, 46 (1) cch.12727, 56-65. doi: 10.1111/cch.12727 |
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2019 Journal Article Defective protein prenylation in a spectrum of patients with mevalonate kinase deficiencyMunoz, Marcia A., Jurczyluk, Julie, Simon, Anna, Hissaria, Pravin, Arts, Rob J. W., Coman, David, Boros, Christina, Mehra, Sam and Rogers, Michael J. (2019). Defective protein prenylation in a spectrum of patients with mevalonate kinase deficiency. Frontiers in Immunology, 10 (AUG) 1900, 1900. doi: 10.3389/fimmu.2019.01900 |
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2019 Journal Article SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individualsNg, Bobby G., Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A., Barone, Rita, Botto, Lorenzo D., Burton, Jennifer E., Carlston, Colleen, Chung, Brian Hon-Yin, Cohen, Julie S., Coman, David, Dipple, Katrina M., Dorrani, Naghmeh, Dobyns, William B., Elias, Abdallah F., Epstein, Leon, Gahl, William A., Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E., Hunter, Jesse M., Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane ... Freeze, Hudson H. (2019). SLC35A2-CDG: functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals. Human Mutation, 40 (7) humu.23731, 908-925. doi: 10.1002/humu.23731 |
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2019 Journal Article A novel familial 9q31.2q32 microdeletion: muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short statureRamineni, Anand K., Burgess, Trent, Cruickshanks, Penny and Coman, David (2019). A novel familial 9q31.2q32 microdeletion: muscle cramping, somnolence, fatigue, sensorineural hearing loss, pubertal delay, and short stature. Clinical Case Reports, 7 (2), 304-310. doi: 10.1002/ccr3.1970 |
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2019 Journal Article International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow upAltassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena-Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R., Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández-Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna ... Morava, Eva (2019). International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: diagnosis, treatment and follow up. Journal of Inherited Metabolic Disease, 42 (1), 5-28. doi: 10.1002/jimd.12024 |
