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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 |
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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 Keeping an eye on congenital disorders of O-glycosylation: a systematic literature reviewFrancisco, Rita, Pascoal, Carlota, Marques-da-Silva, Dorinda, Morava, Eva, Gole, Glen A., Coman, David, Jaeken, Jaak and Dos Reis Ferreira, Vanessa (2019). Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. Journal of Inherited Metabolic Disease, 42 (1), 29-48. doi: 10.1002/jimd.12025 |
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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 |
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2018 Journal Article Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeSwan, L., Gole, G., Sabesan, V., Cardinal, J. and Coman, D. (2018). Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome. Case Reports in Genetics, 2018, 1-4. doi: 10.1155/2018/2508345 |
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2018 Journal Article Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic LocusTrivellin, Giampaolo, Sharwood, Erin, Hijazi, Hadia, Carvalho, Claudia M. B., Yuan, Bo, Tatton-Brown, Katrina, Coman, David, Lupski, James R., Cotterill, Andrew M., Lodish, Maya B. and Stratakis, Constantine A. (2018). Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus. Journal of the Endocrine Society, 2 (10), 1100-1108. doi: 10.1210/js.2018-00156 |
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2018 Journal Article SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairmentSwan, Lauren, Cardinal, John and Coman, David (2018). SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment. Clinics and Practice, 8 (3), 91-93. doi: 10.4081/cp.2018.1071 |
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2018 Journal Article Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesisComan, David, Vissers, Lisenka E. L. M., Riley, Lisa G., Kwint, Michael P., Hauck, Roxanna, Koster, Janet, Geuer, Sinje, Hopkins, Sarah, Hallinan, Barbra, Sweetman, Larry, Engelke, Udo F. H., Burrow, T Andrew, Cardinal, John, McGill, James, Inwood, Anita, Gurnsey, Christine, Waterham, Hans R., Christodoulou, John, Wevers, Ron A. and Pitt, James (2018). Squalene synthase deficiency: clinical, biochemical, and molecular characterization of a defect in cholesterol biosynthesis. American Journal of Human Genetics, 103 (1), 125-130. doi: 10.1016/j.ajhg.2018.05.004 |
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2018 Journal Article Ocular manifestations of a novel proximal 19p13.3 microdeletionSwan, L. and Coman, D. (2018). Ocular manifestations of a novel proximal 19p13.3 microdeletion. Case Reports in Genetics, 2018, 2492437-5. doi: 10.1155/2018/2492437 |
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2018 Journal Article Transient neonatal zinc deficiency in exclusively breastfed preterm infantsWatson, Lauren, Cartwright, David, Jardine, Luke A, Pincus, David, Koorts, Pieter, Kury, Sebastien, Bezieau, Stephanie, George, Shane, Moloney, Susan, Holt, Johanna and Coman, David (2018). Transient neonatal zinc deficiency in exclusively breastfed preterm infants. Journal of Paediatrics and Child Health, 54 (3), 319-322. doi: 10.1111/jpc.13780 |
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2018 Journal Article Tread carefully: a functional variant in the human NADPH oxidase 4 (NOX4) is not disease causingNafisinia, Michael, Menezes, Minal Juliet, Gold, Wendy Anne, Riley, Lisa, Hatch, Joshua, Cardinal, John, Coman, David and Christodoulou, John (2018). Tread carefully: a functional variant in the human NADPH oxidase 4 (NOX4) is not disease causing. Molecular Genetics and Metabolism, 123 (3), 382-387. doi: 10.1016/j.ymgme.2018.01.007 |
