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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 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 |
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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 Keeping an eye on congenital disorders of O-glycosylation: a systematic literature reviewFrancisco, R., Pascoal, C., Marques-da-Silva, D., Morava, E., Gole, G. A., Coman, D., Jaeken, J. and Dos Reis Ferreira, Vanessa (2018). Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. Journal of Inherited Metabolic Disease, 1-16. doi: 10.1007/s10545-017-0119-2 |
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2017 Journal Article Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse MyelitisBursle, C., Riney, K., Stringer, J., Moore, D., Gole, G., Kearns, L. S., Mackey, D. A. and Coman, D. (2017). Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis. JIMD Reports, 42, 53-60. doi: 10.1007/8904_2017_79 |
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2017 Journal Article An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variantsPop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi and Salomons, Gajja S. (2017). An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. Journal of Inherited Metabolic Disease, 41 (2), 169-180. doi: 10.1007/s10545-017-0106-7 |
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2017 Journal Article Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac TransplantationBursle, C, Weintraub, R, Ward, C, Justo, R, Cardinal, J and Coman, D (2017). Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation. JIMD reports, 40, 91-95. doi: 10.1007/8904_2017_68 |
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2017 Journal Article X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea DiseaseComan, David, Fullston, Tom, Shoubridge, Cheryl, Leventer, Richard, Wong, Flora, Nazaretian, Simon, Simpson, Ian, Gecz, Josef and McGillivray, George (2017). X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease. Child Neurology Open, 4, 1-6. doi: 10.1177/2329048X17738625 |
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2017 Journal Article GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBSWaak, Michaela, Mohammad, Shekeeb S., Coman, David, Sinclair, Kate, Copeland, Lisa, Silburn, Peter, Coyne, Terry, McGill, Jim, O'Regan, Mary, Selway, Richard, Symonds, Joseph, Grattan-Smith, Padraic, Lin, Jean-Pierre, Dale, Russell C. and Malone, Stephen (2017). GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. Journal of Neurology, Neurosurgery and Psychiatry, 89 (2), 220-+. doi: 10.1136/jnnp-2017-315653 |
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2017 Journal Article Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functionsGuitart, Amelie V., Panagopoulou, Theano I., Villacreces, Arnaud, Vukovic, Milica, Sepulveda, Catarina, Allen, Lewis, Carter, Roderick N., van de Lagemaat, Louie N., Morgan, Marcos, Giles, Peter, Sas, Zuzanna, Gonzalez, Marta Vila, Lawson, Hannah, Paris, Jasmin, Edwards-Hicks, Joy, Schaak, Katrin, Subramani, Chithra, Gezer, Deniz, Armesilla-Diaz, Alejandro, Wills, Jimi, Easterbrook, Aaron, Coman, David, So, Chi Wai Eric, O'Carroll, Donal, Vernimmen, Douglas, Rodrigues, Neil P., Pollard, Patrick J., Morton, Nicholas M., Finch, Andrew and Kranc, Kamil R. (2017). Fumarate hydratase is a critical metabolic regulator of hematopoietic stem cell functions. The Journal of Experimental Medicine, 214 (3), 719-735. doi: 10.1084/jem.20161087 |
