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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 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 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 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 |
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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 |
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2014 Journal Article Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemiaLewis, Fiona M., DeJonge, Shannon M. and Coman, David J. (2014). Age at assessment a critical factor when monitoring early communicative skills in children with galactosaemia. Early Child Development and Care, 184 (11), 1636-1647. doi: 10.1080/03004430.2013.871275 |
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2014 Journal Article Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndromeWilson, Gabrielle R., Sunley, Jasmine, Smith, Katherine R., Pope, Kate, Bromhead, Catherine J., Fitzpatrick, Elizabeth, Di Rocco, Maja, Van Steensel, Maurice, Coman, David J., Leventer, Richard J., Delatycki, Martin B., Amor, David J., Bahlo, Melanie and Lockhart, Paul J. (2014). Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. European Journal of Human Genetics, 22 (6), 741-747. doi: 10.1038/ejhg.2013.229 |
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2013 Journal Article Charting a seven-year trajectory of language outcomes for a child with galactosemiaLewis, Fiona M., Coman, David J., Syrmis, Maryann, Kilcoyne, Sarah and Murdoch, Bruce E. (2013). Charting a seven-year trajectory of language outcomes for a child with galactosemia. Journal of Developmental and Behavioral Pediatrics, 34 (6), 414-418. doi: 10.1097/DBP.0b013e31829a7be1 |
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2013 Journal Article Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scoresRajanayagam, Jeremy, Coman, David, Cartwright, David and Lewindon, Peter J. (2013). Pediatric acute liver failure: etiology, outcomes, and the role of serial pediatric end-stage liver disease scores. Pediatric Transplantation, 17 (4), 362-368. doi: 10.1111/petr.12083 |
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2013 Journal Article Fumarase deficiency in dichorionic diamniotic twinsTregoning, S., Salter, W., Thorburn, D.R., Durkie, M., Panayi, M., Wu, J.Y., Easterbrook, A. and Coman, D.J. (2013). Fumarase deficiency in dichorionic diamniotic twins. Twin Research and Human Genetics, 16 (6), 1117-1120. doi: 10.1017/thg.2013.72 |
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2012 Journal Article Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemiaLewis, Fiona M., Coman, David J., Syrmis, Maryanne, Kilcoyne, Sarah and Murdoch, Bruce E. (2012). Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemia. Early Child Development and Care, 183 (12), 1747-1757. doi: 10.1080/03004430.2012.751101 |
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2012 Journal Article IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical GalactosaemiaCoss, K.P., Byrne, J.C., Coman, D.J., Adamczyk, B., Abrahams, J.L., Saldova, R., Brown, A.Y., Walsh, O., Hendroff, U., Carolan, C., Rudd, P.M. and Treacy, E.P. (2012). IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia. Molecular Genetics and Metabolism, 105 (2), 1-9. doi: 10.1016/j.ymgme.2011.10.018 |
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2012 Journal Article Extended newborn screening: An update for the general paediatricianComan, David and Bhattacharya, Kaustuv (2012). Extended newborn screening: An update for the general paediatrician. Journal of Paediatrics and Child Health, 48 (2), E68-E72. doi: 10.1111/j.1440-1754.2011.02199.x |
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2011 Journal Article Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physiciansComan, David J., Hayes, Ian M, Collins, Veronica, Sahhar, Margaret, Wraith, J. Ed and Delatycki, Martin B (2011). Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: opinions of treating physicians. Journal of Inherited Metabolic Disease, 1, 9-15. doi: 10.1007/8904_2011_9 |
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2010 Journal Article Language skills in a child with Leber hereditary optic neuropathy following intrathecal chemotherapy for acute lymphoblastic leukemiaLewis, Fiona M., Coman, David J. and Murdoch, Bruce E. (2010). Language skills in a child with Leber hereditary optic neuropathy following intrathecal chemotherapy for acute lymphoblastic leukemia. Pediatric Hematology and Oncology, 27 (8), 626-635. doi: 10.3109/08880018.2010.503340 |
