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Research
  Home / Research / Research Groups / Human Genome Research Project / Publications

Human Genome Research Project

Research arm of the Western Sydney Genetics Program

Publications

  1. Ades LC, Sullivan K, Biggin A, Haan EA, Brett M, et al. (2006) FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. Am J Med Genet A 140: 1047-1058.
  2. Ager S, Fyfe S, Christodoulou J, Jacoby P, Schmitt L, et al. (2006) Predictors of scoliosis in rett syndrome. J Child Neurol 21: 809-813.
  3. Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, et al. (2006) NTNG1 mutations are a rare cause of Rett syndrome. Am J Med Genet A 140A: 691-694.
  4. Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B (2006) Newborn screening may fail to identify intermediate forms of maple syrup urine disease. J Inherit Metab Dis 29: 586.
  5. Bugeja MJ, Booth D, Bennetts B, Heard R, Rubio J, et al. (2006) An investigation of polymorphisms in the 17q11.2-12 CC chemokine gene cluster for association with multiple sclerosis in Australians. BMC Med Genet 7: 64.
  6. Bugeja MJ, Booth DR, Bennetts BH, Heard RN, Stewart GJ (2006) An investigation of polymorphisms in the 4q1 3.3-21.1 CXC chemokine gene cluster for association with multiple sclerosis in Australians. Mult Scler 12: 710-722.
  7. Chiong MA, Marinaki A, Duley J, Bennetts B, Ouvrier R, et al. (2006) Lesch-Nyhan disease in a 20-year-old man incorrectly described as developing 'cerebral palsy' after general anaesthesia in infancy. J Inherit Metab Dis 29: 594.
  8. Christodoulou J (2006) MECP2-Related Disorders. GeneReviews at GeneTests: Medical Genetics Information Resource. August 2006 ed: University of Washington, Seattle.
  9. Christodoulou J, Craig HJ, Walker DC, Weaving LS, Pearson CE, et al. (2006) Deletion hotspot in the argininosuccinate lyase gene: association with topoisomerase II and DNA polymerase alpha sites. Hum Mutat.
  10. Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B (2006) 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29: 383-389.
  11. Einfeld SL, Kavanagh SJ, Smith A, Evans EJ, Tonge BJ, et al. (2006) Mortality in Prader-Willi syndrome. . Am J Ment Retard 111: 193-198.
  12. Flanagan JM, Rhodes M, Wilson M, Beutler E (2006) The identification of a recurrent phosphoglycerate kinase mutation associated with chronic hemolytic anemia and neurological dysfunction in a family from USA. Br J Haematol 134: 233-237.
  13. Gabbett MT, Jones K, Cowell CT, Sillence DO, Wilson MJ (2006) Neonatal severe hyperparathyroidism: an important clue to the aetiology. J Paediatr Child Health 42: 813-816.
  14. Hofer SE, Bennetts B, Chan AK, Holloway B, Karschimkus C, et al. (2006) Association between PON 1 polymorphisms, PON activity and diabetes complications. J Diabetes Complications 20: 322-328.
  15. Jian L, Nagarajan L, de Klerk N, Ravine D, Bower C, et al. (2006) Predictors of seizure onset in Rett syndrome. J Pediatr 149: 542-547.
  16. Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, et al. (2006) Early progressive encephalopathy in boys and MECP2 mutations. Neurology 67: 164-166.
  17. Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, et al. (2006) The Cypriot and Iranian National Mutation Frequency Databases. Hum Mutat 27: 598-599.
  18. Kure S, Junko Kanno J, Sato K, Kojima K, Ichinohe A, et al. (2006) A comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat 27: 343-352.
  19. Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, et al. (2006) Rett syndrome in Australia: a review of the epidemiology. J Pediatr 148: 347-352.
  20. Mahjoubi F, Hill RJ, Peters GB (2006) Chromosome microdissection identifies genomic amplifications associated with drug resistance in a leukemia cell line: an approach to understanding drug resistance in cancer. Chromosome Res 14: 263-276.
  21. Mitchell JJ, Wilcken B, Alexander I, Ellaway C, O'Grady H, et al. (2006) Tetrahydrobiopterin responsive phenylketonuria: The New South Wales experience. Mol Genet Metab 86: S81-S85.
  22. Munns CM, Sillence DO (2006) Disorders Predisposing to Bone Fragility and Decreased Bone Density. . In: Emery, Rimoin, editors. Emery & Rimoin's Principles and Practice of Medical Genetics. 5th ed. pp. 3671-3691.
  23. Neas K, Peters G, Jackson J, Tembe M, Wu ZH, et al. (2006) Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association. Clin Dysmorphol 15: 1-8.
  24. Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, et al. (2006) Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet A 140: 1711-1718.
  25. Pelka GJ, Watson CM, Radziewic T, Hayward M, Lahooti H, et al. (2006) Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain 129: 887-898.
  26. Robertson L, Hall SE, Jacoby P, Ellaway C, de Klerk N, et al. (2006) The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database. Am J Med Genet B Neuropsychiatr Genet 141B: 177-183.
  27. Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, et al. (2006) Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A 140: 1726-1736.
  28. Saxena A, de Lagarde D, Leonard H, Williamson SL, Vasudevan V, et al. (2006) Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2. J Med Genet 43: 470-477.
  29. Sillence DO, Munns CM (2006) Disorders with Increased Bone Density, Volume and Mineralization. . In: Emery, Rimoin, editors. Emery & Rimoin's Principles and Practice of Medical Genetics. 5th ed. pp. 3692-3708.
  30. Smith A, Das P, O'Reilly J, Patsouris C, Campbell LJ (2006) Three adults with ALL and dicentric (7;9)(p11.2;p11). Cancer Genet Cytogenet 166: 86-88.
  31. Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, et al. (2006) Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 78: 28-37.
  32. Stordahl B, Peters GB, Davey R (2006) Similar chromosomal changes in Cisplatin-resistant and Oxaliplatin-resistant SCLC derivatives of the H69 cell line are not associated with platinum resistance. . Genes, Chromosomes & Cancer 1094-1105.
  33. Storlazzi CT, Fioretos T, Surace C, Lonoce A, Mastrorilli A, et al. (2006) MYC- containing double minutes in hematologic malignancies: evidence in favour of the episome model and exclusion of MYC as the target gene. Hum Mol Genet 15: 1-10.
  34. Thamotharampillai K, Chan AK, Bennetts B, Craig ME, Cusumano J, et al. (2006) Decline in neurophysiological function after 7 years in an adolescent diabetic cohort and the role of aldose reductase gene polymorphisms. Diabetes Care 29: 2053-2057.
  35. Travers CA, Guttikonda K, Norton CA, Lewis PR, Mollart LJ, et al. (2006) Iodine status in pregnant women and their newborns: are our babies at risk of iodine deficiency? Med J Aust 184: 617-620.
  36. Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, et al. (2006) Origin of the prevalent SFTB indel g.1549C>GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. Amer J Med Genet 140A: 62-69.
  37. Trent RJ, Webster B, Bowden DK, Gilbert A, Ho PJ, et al. (2006) Complex Phenotypes in the Haemoglobinopathies: Recommendations on Screening and DNA Testing. Pathology 38: 507-519.
  38. Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, et al. (2006) Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab 87: 32-39.
  39. Wilcken B (2006) Mini-symposium: newborn screening for inborn errors of metabolism--clinical effectiveness. J Inherit Metab Dis 29: 366-369.
  40. Wilcken DE, Wang J, Sim AS, Green K, Wilcken B (2006) Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function. J Inherit Metab Dis 29: 30-37.
  41. Willcock C, Grigg J, Wilson M, Tam P, Billson F, et al. (2006) Congenital iris ectropion as an indicator of variant aniridia. Br J Ophthalmol 90: 658-569.
  42. Williamson SL, Christodoulou J (2006) Rett syndrome: new clinical and molecular insights. Eur J Hum Genet 14: 896-903.
  43. Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, et al. (2006) Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochim Biophys Acta 1762: 598-607.
  44. Ades L (2007) Guidelines for the diagnosis and management of Marfan syndrome. Heart Lung Circ 16: 28-30.
  45. Ades LC (2007) Doctors and painting. Cancer Forum: 116.
  46. Algar EM, St Heaps L, Darmanian A, Dagar V, Prawitt D, et al. (2007) Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis. Cancer Res 67: 2360-2365.
  47. Algar EM, St Heaps L, Darmanian AP, Dagar V, Prawitt D, et al. (2007) Paternally inherited submicroscopic duplication of H19/IGF2 in a family with overgrowth and Wilms tumor. Cancer Res 67: 2360-2365.
  48. Archer HL, Evans J, Leonard H, Colvin L, Ravine D, et al. (2007) Correlation between clinical severity in Rett syndrome patients with a p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of X chromosome inactivation. J Med Genet 44: 148 - 152.
  49. Arvind H, Hunyor A, McClellan K, Billson F, Grigg J, et al. (2007) Management of intraoperative tilting of the scleral-fixated intraocular lens in classical aniridia. Br J Ophthalmol 91: 1247-1248.
  50. Blue GM, Mah JM, Cole AD, Lal V, Wilson MJ, et al. (2007) The negative impact of Alagille syndrome on survival of infants with pulmonary atresia. J Thoracic Cardiovasc Surg 133: 1094-1096.
  51. Chan PA, Duraisamy S, Miller PJ, Newell JA, McBride C, et al. (2007) Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Hum Mutat 28: 683-693.
  52. Chiong MA, Bennetts BH, Strasser SI, Wilcken B (2007) Fatal late-onset ornithine transcarbamylase deficiency after coronary artery bypass surgery. Med J Aust 186: 418-419.
  53. Chiong MA, Carpenter K, Christodoulou J (2007) Low citrulline may not be diagnostic of ornithine transcarbamylase deficiency: A case report. J Inherit Metab Dis 30: 405.
  54. Chiong MA, Procopis P, Carpenter K, Wilcken B (2007) Late-onset nonketotic hyperglycinemia with leukodystrophy and an unusual clinical course. Pediatr Neurol 37: 283-286.
  55. Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, et al. (2007) Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Mol Genet Metab 92: 109-114.
  56. Cipolli M, Castellani C, Wilcken B, Massie J, McKay K, et al. (2007) Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening. Arch Dis Child 92: 842-846.
  57. Cliffe ST, Wong M, Taylor PJ, Ruga E, Wilcken B, et al. (2007) The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. Prenat Diagn 27: 674-676.
  58. Cotton RGH, Auerbach AD, Brown AF, Carrera P, Christodoulou J, et al. (2007) Members of the Human Genome Variation Society and the Human Variome Project Diagnostic Laboratory Working Group A Structured Simple Form for Ordering Genetic Tests is Needed to Ensure Coupling Clinical Detail (Phenotype) and Mutation (Genotype) to Ensure Utility in Publication and Databases. Hum Mutat 28: 931-932.
  59. Cross J, Peters G, Wu Z, Brohede J, Hannan GN (2007) Resolution of trisomic mosaicism in prenatal diagnosis: estimated performance of a 50K SNP microarray. Prenat Diagn 27: 1197-1204.
  60. Daniel A, Darmanian A, Peters G, Goodwin L, Hort JR (2007) An innocuous duplication of 11.2 Mb at 13q21 is gene poor: sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies. Am J Med Genet A 143A: 2452-2459.
  61. Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, et al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat 28: 313-321.
  62. de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, et al. (2007) Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1. Am J Hum Genet 81: 507-518.
  63. Einfeld SL, Kavanagh S, Smith A, Tonge BJ (2007) Psychosis in Prader-Willi syndrome. . In: Sachdev P, Keshavan M, editors. Secondary Schizophrenia: Cambridge University Press.
  64. Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, et al. (2007) Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30: 184-192.
  65. Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, et al. (2007) Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet 81: 454-466.
  66. Fyfe S, Downs J, McIlroy O, Burford B, Lister J, et al. (2007) Development of a video-based evaluation tool in Rett syndrome. J Autism Dev Disord 37: 1636-1646.
  67. Gil-Rodríguez MA, Loeys B, Kline AD, Wilson M, Lillquist K, et al. (2007) Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation. . Am J Hum Genet 80: 485-494.
  68. Godfrey C, Clement E, Mein R, Brockington M, Smith J, et al. (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130: 2725-2735.
  69. Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, et al. (2007) Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 39: 1488-1493.
  70. Haas M, Chaplin M, Joy P, Wiley V, Black C, et al. (2007) Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening. J Pediatr 151: 121-126, 126 e121.
  71. Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, et al. (2007) Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet 15: 1218-1229.
  72. Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, et al. (2007) PAX6 mutations may be associated with high myopia. Ophthalmic Genet 28: 179-182.
  73. Ho MS, Tsang KY, Lo RL, Susic M, Makitie O, et al. (2007) COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. Hum Mol Genet 16: 1201-1215.
  74. Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, et al. (2007) Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet 15: 1269-1275.
  75. Hung D, St. Heaps L, Benson W, Mirochnik O, Sharma P, et al. (2007) Deletion of 3'CBFß in an inversion(16), ascertained by FISH and RT-PCR. Cancer Genet Cytogenet 172: 92-94.
  76. Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, et al. (2007) Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Hum Mutat 28: 968-977.
  77. Jatana V, Gillis J, Webster BH, Ades LC (2007) Deletion 22q11.2 syndrome--implications for the intensive care physician. Pediatr Crit Care Med 8: 459-463.
  78. Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, et al. (2007) Seizures in Rett syndrome: An overview from a one-year calendar study. Eur J Paediatr Neurol 11: 310-317.
  79. Kandasamy J, Diaz S, Rose R, O'Brien C, Smith A (2007) Heterogeneity of PLAG1 gene rearrangements in pleomorphic adenoma. Cancer Genet Cytogenet 177: 1-5.
  80. Kolker S, Christensen E, Leonard JV, Greenberg CR, Burlina AB, et al. (2007) Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis 30: 5-22.
  81. Maclean K, Holme SA, Gilmour E, Taylor M, Scheffer H, et al. (2007) EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? Am J Med Genet A 143A: 1114-1149.
  82. Martin L, Sturgess A, Sillence D, Murrell DF (2007) Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. Australas J Dermatol 48: 40-42.
  83. Mattes J, Whitehead B, Liehr T, Wilkinson I, Bear J, et al. (2007) Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14. Am J Med Genet A 143A: 2165-2171.
  84. Palmer SJ, Tay ES, Santucci N, Cuc Bach TT, Hook J, et al. (2007) Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development. Gene Expr Patterns 7: 396-404.
  85. Perveen R, Favor J, Jamieson RV, Ray DW, Black GC (2007) A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. Hum Mol Genet 16: 1030-1038.
  86. Schindeler S, Ghosh-Jerath S, Thompson S, Rocca A, Joy P, et al. (2007) The effects of large neutral amino acid supplements in PKU: An MRS and neuropsychological study. Mol Genet Metab 91: 48-54.
  87. Singh-Grewal D, Chaitow J, Aksentijevich I, Christodoulou J (2007) Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Ann Rheum Dis 66: 1541.
  88. Superti-Furga A, Unger S, Society tNGotISD (2007) Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 143A: 1-18.
  89. Swamy BN, Billson F, Martin F, Donaldson C, Hing S, et al. (2007) Secondary glaucoma after paediatric cataract surgery. Br J Ophthalmol 91: 1627-1630.
  90. Tan ES, Wiley V, Carpenter K, Wilcken B (2007) Non-ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab 90: 446-448.
  91. Tay T, Smith JE, Berman Y, Ades L, Missotte I, et al. (2007) Nanophthalmos in a Melanesian population. Clin Experiment Ophthalmol 35: 348-354.
  92. Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, et al. (2007) Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology 69: 442-447.
  93. Vyletal P, Sokolova J, Cooper DN, Kraus JP, Krawczak M, et al. (2007) Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. Hum Mutat 28: 255-264.
  94. Wilcken B (2007) Newborn screening for cystic fibrosis: techniques and strategies. J Inherit Metab Dis 30: 537-543.
  95. Wilcken B (2007) Recent advances in newborn screening. J Inherit Metab Dis 30: 129-133.
  96. Wilcken B, Gaskin K (2007) More evidence to favour newborn screening for cystic fibrosis. Lancet 369: 1146-1147.
  97. Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, et al. (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369: 37-42.
  98. Wilson C, Kerruish NJ, Wilcken B, Wiltshire E, Webster D (2007) The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening. N Z Med J 120: U2727.
  99. Wilson M (2007) The 22q11 Deletion Syndrome. Cardiology in General Practice Journal. Sydney: Good Health Publications.
  100. Wilson M (2007) Medically Compromised Children: Genetic Counselling. In: Cameron A, Widmer RE, (2nd edition), Elsevier Ltd, 2007 editors. Handbook of Paediatric Dentistry. 2nd ed: Elsevier Ltd,.
  101. Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, et al. (2007) Sleep problems in Rett syndrome. Brain Dev.
  102. Ades LC (2008) Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. Clin Dysmorphol 17: 243-248.
  103. Alexander IE, Cunningham SC, Logan GJ, Christodoulou J (2008) Potential of AAV vectors in the treatment of metabolic disease. Gene Ther 15: 831-839.
  104. Alexander SI, Smith N, Hu M, Verran D, Shun A, et al. (2008) Chimerism and tolerance in a recipient of a deceased-donor liver transplant. N Engl J Med 358: 369-374.
  105. Bijarnia S, Wiley V, Carpenter K, Christodoulou J, Ellaway CJ, et al. (2008) Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis 31: 4.
  106. Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, et al. (2008) Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant. Eur J Med Genet 51: 148-155.
  107. Chopra M, Lawson J, Wilson M, Mowat D (2008) Tuberous sclerosis -what's new...the role of gene testing. Arch Dis Child published online July 2 2008.
  108. Clement E, Mercuri E, Godfrey C, Smith J, Robb S, et al. (2008) Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol 64: 573-582.
  109. Correia CE, Bhattacharya K, Lee PJ, Shuster JJ, Theriaque DW, et al. (2008) Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. Am J Clin Nutr 88: 1272-1276.
  110. Daniel A, St Heaps L, Sylvester D, Diaz S, Peters G (2008) Two mosaic terminal inverted duplications arising post-zygotically: Evidence for possible formation of neo-telomeres. Cell Chromosome 7: 1.
  111. De Brouwer APM, Duley J, Christodoulou J (2008) Arts syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource. October 2008 ed: University of Washington, Seattle.
  112. Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, et al. (2008) Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. Eur J Hum Genet.
  113. Faivre L, Collod-Beroud G, Child A, Callewaert B, Loeys BL, et al. (2008) Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. J Med Genet 45: 384-390.
  114. Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA (2008) Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clin Genet 73: 353-359.
  115. Gallego PH, Craig ME, Duffin AC, Bennetts B, Jenkins AJ, et al. (2008) Association between p.Leu54Met polymorphism at the paraoxonase-1 gene and plantar fascia thickness in young subjects with type 1 diabetes. Diabetes Care 31: 1585-1589.
  116. Gleeson H, Wiltshire E, Briody J, Hall J, Chaitow J, et al. (2008) Childhood chronic recurrent multifocal osteomyelitis: pamidronate therapy decreases pain and improves vertebral shape. J Rheumatol 35: 707-712.
  117. Gleeson HK, Wiley V, Wilcken B, Elliott E, Cowell C, et al. (2008) Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia. J Paediatr Child Health 44: 554-559.
  118. Gunja N, Doyle E, Carpenter K, Chan OT, Gilmore S, et al. (2008) Gamma-hydroxybutyrate poisoning from toy beads. Med J Aust 188: 54-55.
  119. Hackett A, Gillard J, Wilcken B (2008) n of 1 trial for an ornithine transcarbamylase deficiency carrier. Mol Genet Metab 94: 157-161.
  120. Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, et al. (2008) Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 94: 469-475.
  121. Ho G, Walter JH, Christodoulou J (2008) Costeff optic atrophy syndrome: New clinical case and novel molecular findings. J Inherit Metab Dis.
  122. Jaeckle Santos LJ, Xing C, Barnes RB, Ades LC, Megarbane A, et al. (2008) Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Hum Genet 123: 469-476.
  123. Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, et al. (2008) Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics 121: e1295-1300.
  124. Kondo M, Gray LJ, Pelka GJ, Christodoulou J, Tam PP, et al. (2008) Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome -Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci 27: 3342-3350.
  125. Lewis SL, Khoo PL, De Young RA, Steiner K, Wilcock C, et al. (2008) Dkk1 and Wnt3 interact to control head morphogenesis in the mouse. Development 135: 1791-1801.
  126. McKay K, Wilcken B (2008) Newborn screening for cystic fibrosis offers an advantage over symptomatic diagnosis for the long term benefit of patients: the motion for. Paediatr Respir Rev 9: 290-294.
  127. Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, et al. (2008) Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Twin Res Hum Genet 11: 412-421.
  128. Norman R, Haas M, Wilcken B (2008) International perspectives on the cost-effectiveness of tandem mass spectrometry for rare metabolic conditions. Health Policy.
  129. Peat RA, Smith JM, Compton AG, Baker NL, Pace RA, et al. (2008) Diagnosis and etiology of congenital muscular dystrophy. Neurology 71: 312-321.
  130. Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, et al. (2008) Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat 29: 1237-1246.
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This document was published on Wednesday, 11 February 2009
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