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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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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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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 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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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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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 |
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2015 Conference Publication Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathySharwood, E. F., McGill, M., Koorts, P. J., Coman, D. and Conwell, L. S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. Children's Health Queensland Research Conference, Brisbane, Queensland, Australia, December 2015. |
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2015 Book Chapter Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?Grover, Z., Lewindon, P., Clousten, A., Shaag, A., Elpeleg, O. and Coman, D. (2015). Hepatic copper accumulation: a novel feature in transient infantile liver failure due to TRMU mutations?. JIMD Reports, Volume 21. (pp. 109-113) edited by Johannes Zschocke, Matthias Baumgartner, Eva Morava, Marc Patterson, Shamima Rahman and Verena Peters. Berlin, Germany: Springer Berlin Heidelberg. doi: 10.1007/8904_2014_402 |
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2015 Conference Publication Information processing in a child with Galactosaemia: an examination using behavioural and neuropysiological measuresLewis, Fiona M., Knueppfer, Christina and Coman, David J. (2015). Information processing in a child with Galactosaemia: an examination using behavioural and neuropysiological measures. Federation of European Societies of Neuropsychology, Tampere, Finland, 9-11 September 2015. doi: 10.13140/RG.2.1.3218.9923 |
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2015 Conference Publication Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathySharwood, Erin F., McGill, Michael, Koorts, P. J., Coman, David and Conwell, Louise S. (2015). Dizygotic twins with skeletal dysplasia and resistance to hormones signalling through G protein-coupled receptors and the Gsa/cAMP/PKA pathway - severe craniosynostosis and hypertrophic cardiomyopathy. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, Queensland, Australia, October 2015. |
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2014 Journal Article Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical featureMohammad, Shekeeb S., Coman, David and Calvert, Sophie (2014). Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature. Journal of Paediatrics and Child Health, 50 (12), 1025-1026. doi: 10.1111/jpc.12613 |
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2014 Journal Article Pre-linguistic communication skill development in an infant with a diagnosis of galactosemiaLewis, Fiona M., Coman, David J., Kilcoyne, Sarah, Murdoch, Bruce E. and Syrmis, Maryanne (2014). Pre-linguistic communication skill development in an infant with a diagnosis of galactosemia. Developmental Neurorehabilitation, 17 (5), 291-297. doi: 10.3109/17518423.2012.753479 |
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2014 Journal Article Early markers of vulnerable language skill development in galactosaemiaLewis, Fiona M., Coman, David J. and Syrnis, Maryanne (2014). Early markers of vulnerable language skill development in galactosaemia. Early Child Development and Care, 184 (12), 1787-1799. doi: 10.1080/03004430.2013.878712 |
