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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 |
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2010 Journal Article Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control studyMcGill, J. J., Inwood, A. C., Coman, D. J., Lipke, M. L., de Lore, D, Swiedler, S. J. and Hopwood, J. J. (2010). Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age – a sibling control study. Clinical Genetics, 77 (5), 492-498. doi: 10.1111/j.1399-0004.2009.01324.x |
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2010 Journal Article Galactosemia, a single gene disorder with epigenetic consequencesComan, David J., Murray, David W., Byrne, Jennifer C., Rudd, Pauline M., Bagadlia, Paola M., Doran, Peter D. and Treacy, Eileen P. (2010). Galactosemia, a single gene disorder with epigenetic consequences. Pediatric Research, 67 (3), 286-292. doi: 10.1203/PDR.0b013e3181cbd542 |
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2010 Journal Article Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)Coman, David, Yaplito-Lee, Joy, La, Phung, Nasioulas, Steven, Bruno, Damien, Slater, Howard R., Stock-Myer, Sharyn E., Lynch, Elly L. and Gardner, R.J. McKinlay (2010). Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1). Molecular Genetics and Metabolism, 99 (3), 329. doi: 10.1016/j.ymgme.2009.11.006 |
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2010 Journal Article Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell divisionShoubridge, Cheryl, Tan, May, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia, Kleefstra, Tjitske and Gécz, Jozef (2010). Mutations in the nuclear localization sequence of the Aristaless related homeobox; Sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. PathoGenetics, 3 (1) 1. doi: 10.1186/1755-8417-3-1 |
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2010 Journal Article Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcomeComan, D., Gardner, R. J., Pertile, M. D. and Kannu, P. (2010). Trisomy 16 mosaicism at chorionic villus sampling and amniocentesis with a normal physical and intellectual outcome. Fetal diagnosis and therapy, 28 (2), 117-118. doi: 10.1159/000316404 |
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2009 Journal Article Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlationClements, S. E., Techanukul, T., Coman, D., Mellerio, J. E. and McGrath, J.A. (2009). Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: Five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation. British Journal of Dermatology, 162 (1), 201-207. doi: 10.1111/j.1365-2133.2009.09496.x |
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2009 Journal Article Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practiceBruno, D. L., Ganesamoorthy, D., Schoumans, J., Bankier, A., Coman, D., Delatycki, M., Gardner, R. J. M., Hunter, M., James, P. A., Kannu, P., McGillivray, G., Pachter, N., Peters, H., Rieubland, C., Savarirayan, R., Scheffer, I. E., Sheffield, L., Tan, T., White, S. M., Yeung, A., Bowman, Z., Ngo, C., Choy, K. W., Cacheux, V., Wong, L., Amor, D. J. and Slater, H. R. (2009). Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice. Journal of Medical Genetics, 46 (2), 123-131. doi: 10.1136/jmg.2008.062604 |
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2009 Journal Article Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1aMalhotra, A., Pateman, A., Chalmers, R., Coman, D. and Menahem, S. (2009). Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a. Fetal Diagnosis and Therapy: clinical advances and basic research, 25 (1), 54-57. doi: 10.1159/000196816 |
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2008 Journal Article Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndromeComan, D., Herbert, A. R., McGill, J., Lockwood, L. and Hallahan, A. R. (2008). Unrelated cord blood transplantation in a girl with Hoyeraal–Hreidarsson syndrome. Bone Marrow Transplantation, 42 (4), 293-294. doi: 10.1038/bmt.2008.163 |
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2008 Journal Article Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9pComan, David, Bacic, Sonya, Boys, Amber, Sparrow, Duncan B., Dunwoodie, Sally L., Savarirayan, Ravi and Amor, David J. (2008). Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. American Journal of Medical Genetics, Part A, 146 (15), 1972-1976. doi: 10.1002/ajmg.a.32299 |
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2008 Journal Article New indications and controversies in arginine therapyComan, David, Yaplito-Lee, Joy and Boneh, Avihu (2008). New indications and controversies in arginine therapy. Clinical Nutrition, 27 (4), 489-496. doi: 10.1016/j.clnu.2008.05.007 |
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2008 Journal Article The skeletal manifestations of the congenital disorders of glycosylationComan, D., Irving, M., Kannu, P., Jaeken, J. and Savarirayan, Ravi (2008). The skeletal manifestations of the congenital disorders of glycosylation. Clinical Genetics, 73 (6), 507-515. doi: 10.1111/j.1399-0004.2008.01015.x |
