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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 |
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2017 Book Chapter COXPD9 an evolving multisystem disease; congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritisBursle, Carolyn, Narendra, Anna, Chuk, Raymond, Cardinal, John, Justo, Rob, Lewis, Bruce and Coman, David (2017). COXPD9 an evolving multisystem disease; congenital lactic acidosis, sensorineural hearing loss, hypertrophic cardiomyopathy, cirrhosis and interstitial nephritis. JIMD Reports. (pp. 105-109) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters. Berlin, Heidelberg: Springer. doi: 10.1007/8904_2016_13 |
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2017 Book Chapter DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; phenotype and genotype expansionBursle, Carolyn, Brown, Dominique, Cardinal, John, Connor, Frances, Calvert, Sophie and Coman, David (2017). DMP1-CDG (CDG1e) with significant gastrointestinal manifestations; phenotype and genotype expansion. JIMD Reports. (pp. 27-32) Berlin, Germany: Springer. doi: 10.1007/8904_2016_7 |
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2016 Journal Article Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature ReviewGole, Hobia, Chuk, Raymond and Coman, David (2016). Persistent Hyperinsulinism in Kabuki Syndrome 2: Case Report and Literature Review. Clinics and Practice, 6 (3) 848, 1-3. doi: 10.4081/cp.2016.848 |
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2016 Journal Article De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic EncephalopathiesMyers, Candace T., McMahon, Jacinta M., Schneider, Amy L., Petrovski, Slavé, Allen, Andrew S., Carvill, Gemma L., Zemel, Matthew, Saykally, Julia E., LaCroix, Amy J., Heinzen, Erin L., Hollingsworth, Georgina, Nikanorova, Marina, Corbett, Mark, Gecz, Jozef, Coman, David, Freeman, Jeremy, Calvert, Sophie, Gill, Deepak, Carney, Patrick, Lerman-Sagie, Tally, Sampaio, Hugo, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Johnson, Michael R., Kuzniecky, Ruben ... Epi4K Consortium (2016). De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. American Journal of Human Genetics, 99 (2), 287-298. doi: 10.1016/j.ajhg.2016.06.003 |
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2016 Journal Article Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyBriggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine ... Crow, Yanick J. (2016). Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. Journal of Clinical Immunology, 36 (5), 529-530. doi: 10.1007/s10875-016-0287-0 |
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2016 Journal Article Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive surveyBriggs, Tracy A., Rice, Gillian I., Adib, Navid, Ades, Lesley, Barete, Stephane, Baskar, Kannan, Baudouin, Veronique, Cebeci, Ayse N., Clapuyt, Philippe, Coman, David, De Somer, Lien, Finezilber, Yael, Frydman, Moshe, Guven, Ayla, Heritier, Sébastien, Karall, Daniela, Kulkarni, Muralidhar L., Lebon, Pierre, Levitt, David, Le Merrer, Martine, Linglart, Agnes, Livingston, John H., Navarro, Vincent, Okenfuss, Ericka, Puel, Anne, Revencu, Nicole, Scholl-Bürgi, Sabine, Vivarelli, Marina, Wouters, Carine ... Crow, Yanick J. (2016). Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey. Journal of Clinical Immunology, 36 (3), 220-234. doi: 10.1007/s10875-016-0252-y |
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2016 Journal Article Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutationsLalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary ... Yang, Yaping (2016). Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations. American Journal of Human Genetics, 98 (2), 347-357. doi: 10.1016/j.ajhg.2015.12.008 |
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2016 Journal Article PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?Coman, D., Lewindon, P., Clayton, P. and Riney, K. (2016). PNPO Deficiency and Cirrhosis: Expanding the Clinical Phenotype?. JIMD Reports, 25, 71-75. doi: 10.1007/8904_2015_456 |
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2016 Journal Article Pediatric Hereditary Neuralgic Amyotrophy : Successful Treatment With Intravenous Immunoglobulin and Insights Into SEPT9 PathogenesisChuk, Raymond, Sheppard, Megan, Wallace, Geoff and Coman, David (2016). Pediatric Hereditary Neuralgic Amyotrophy : Successful Treatment With Intravenous Immunoglobulin and Insights Into SEPT9 Pathogenesis. Child Neurology Open, 3 2329048X1666897, 1-3. doi: 10.1177/2329048x16668970 |
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2016 Book Chapter Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature reviewHatch, J., Coman, D., Clayton, P., Mills, P., Calvert, S., Webster, R. I. and Riney, K. (2016). Normal neurodevelopmental outcomes in PNPO deficiency: a case series and literature review. JIMD Reports. (pp. 91-97) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters. Berlin, Germany: Springer. doi: 10.1007/8904_2015_482 |
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2016 Journal Article De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin SyndromeRamineni, Anand and Coman, David (2016). De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome. Child Neurology Open, 3, 1-6. doi: 10.1177/2329048x16666362 |
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2015 Journal Article Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing lossGagliardi, Lucia, Nataren, Nathalie, Feng, Jinghua, Schreiber, Andreas W., Hahn, Christopher N., Conwell, Louise S., Coman, David and Scott, Hamish S. (2015). Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. American Journal of Medical Genetics, Part A, 167 (8), 1872-1876. doi: 10.1002/ajmg.a.37075 |
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2015 Journal Article Septic arthritis of the temporomandibular joint in an infantChuk, Raymond, Arvier, John, Laing, Barbara and Coman, David (2015). Septic arthritis of the temporomandibular joint in an infant. Clinics and Practice, 5 (2) 736, 53-55. doi: 10.4081/cp.2015.736 |
