Human Genome Research Project

Recent Publications

1. Ades LC: Out of captivity. Medical Journal of Australia 2004; 181(11-12): 628-30.
2. Ades LC, Holman KJ, Brett MS, Edwards MJ, and Bennetts B: Ectopia lentis phenotypes and the FBN1 gene. American Journal of Medical Genetics. Part A 2004; 126(3): 284-9.
3. Bajaj R, Smith J, Trochet D, et al.: Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics 2005; 115(6).
4. Bayliss U, Cowell C, Hong J, Wiley V, and Wilcken B: Acute presentation of childhood hypothyroidism. Medical Journal of Australia 2005; 182(4): 21.
5. W, Saifi GM, Shaw CJ, et al.: Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Human Genetics 2004; 115(6): 515-24.
6. Biggin A, Henke R, Bennetts B, Thorburn DR, and Christodoulou J: Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Molecular Genetics & Metabolism 2005; 84(1): 61-74.
7. Biggin A, Holman K, Brett M, Bennetts B, and Ades L: Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Human Mutation 2004; 23(1).
8. Bugeja MJ, Booth DR, Bennetts BH, et al.: Analysis of the CCL3-L1 gene for association with HIV-1 susceptibility and disease progression. Aids 2004; 18(7): 1069-71.
9. Bugeja MJ, Booth DR, Bennetts BH, Heard RN, Burgner D, and Stewart GJ: An investigation of NOS2A promoter polymorphisms in Australian multiple sclerosis patients. European Journal of Human Genetics 2005; 13(7): 815-22.
10. Byrne JA, Balleine RL, Fejzo MS, et al.: Tumor protein d52 (tpd52) is overexpressed and a gene amplification target in ovarian cancer. Int J Cancer 2005; [Epub ahead of print].
11. Christodoulou J, and Wilcken B: Perimortem laboratory investigation of genetic metabolic disorders. Seminars in Neonatology 2004; 9(4): 275-80.
12. Colige A, Nuytinck L, Hausser I, et al.: Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. Journal of Investigative Dermatology 2004; 123(4): 656-63.
13. Colvin L, Leonard H, de Klerk N, et al.: Refining the phenotype of common mutations in Rett syndrome. Journal of Medical Genetics 2004; 41(1): 25-30.
14. Daniel A, Wu Z, Darmanian A, et al.: Issues arising from the prenatal diagnosis of some rare trisomy mosaics--the importance of cryptic fetal mosaicism. Prenatal Diagnosis 2004; 24(7): 524-36.
15. David G, Sillence D, Hardwick R, and Opitz JM: A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndrome. American Journal of Medical Genetics. Part A 2004; 130(4): 389-92.
16. de Mollerat XJ, Gurrieri F, Morgan CT, et al.: A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Human Molecular Genetics 2004; 12(16): 1959-71.
17. Dobrowolski SF, McKinney JT, Amat di San Filippo C, Giak Sim K, Wilcken B, and Longo N: Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. Human Mutation 2005; 25(3): 306-13.
18. Donaghue KC, Margan SH, Chan AK, et al.: The association of aldose reductase gene (AKR1B1) polymorphisms with diabetic neuropathy in adolescents. Diabetic Medicine 2005; 22(10): 1315-20.
19. Durant E, Diaz S, Greenaway S, and Smith A: A novel cytogenetic abnormality in Burkitt lymphoma associated with treatment resistant disease. Clin Lab Hematol 2005; 27: 328-330.
20. Einfeld SL, Kavanagh S, Smith A, and Tonge BJ: Genetic predisposition to psychosis in Prader-Willi syndrome. Arch Gen Psych 2005; ((in press)).
21. Evans JC, Archer HL, Colley JP, et al.: Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 2005; 13(10): 1113-1120.
22. Fleming F, Woodhead HJ, Briody JN, et al.: Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. Journal of Paediatrics & Child Health 2005; 41(3): 147-51.
23. Gensure RC, Makitie O, Barclay C, et al.: A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.[see comment]. Journal of Clinical Investigation 2005; 115(5): 1250-7.
24. Gibson JH, Williamson SL, Arbuckle S, and Christodoulou J: X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype. Brain & Development 2005; 27(4): 266-70.
25. Ginn SL, Smyth C, Wong M, Bennetts B, Rowe PB, and Alexander IE: A novel splice-site mutation in the common gamma chain (gammac) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype. Human Mutation 2004; 23(5): 522-3.
26. Goldblatt J, Szer J, Fletcher JM, McGill J, Rowell JA, and Wilson M: Enzyme replacement therapy for Gaucher disease in Australia. Internal Medicine Journal 2005; 35(3): 156-61.
27. Grewal SS, Wynn R, Abdenur JE, et al.: Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome. Genetics in Medicine 2005; 7(2): 143-6.
28. Grigg JR, and RV. J, 2005, Phakomatoses, in: Paediatric Ophthalmology and Strabismus (D. Taylor, and C. Hoyt, eds.), Elsevier Publishers, London, pp. 745-753.
29. Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, and Brooks DA: alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. Journal of Molecular Biology 2004; 338(3): 453-62.
30. Hunter AG, Dupont B, McLaughlin M, et al.: The Hunter-McAlpine syndrome results from duplication 5q35-qter. Clinical Genetics 2005; 67(1): 53-60.
31. Jian L, Archer HL, Ravine D, et al.: p.R270X MECP2 mutation and mortality in Rett syndrome. European Journal of Human Genetics 2005; 13(11): 1235-1238.
32. Leonard H, Moore H, Carey M, et al.: Genotype and early development in Rett syndrome: The value of international data. Brain & Development 2005; 27(Suppl 1): S59-S68.
33. Leonard H, Weaving L, Eastaugh P, et al.: Trisomy 21 and Rett syndrome: a double burden. Journal of Paediatrics & Child Health 2004; 40(7): 406-9.
34. Maclean K, Rasiah VS, Kirk EP, et al.: Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Acta Paediatrica 2005; 94(1): 114-6.
35. Maclean K, Smith J, St Heaps L, et al.: Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. American Journal of Medical Genetics. Part A 2005; 132(4): 381-5.
36. Mahjoubi F, Peters GB, Malafiej P, et al.: An analphoid marker chromosome inv dup(15)(q26.1qter), detected during prenatal diagnosis and characterized via chromosome microdissection. Cytogenetic & Genome Research 2005; 109(4): 485-90.
37. Mancuso M, Ferraris S, Pancrudo J, et al.: New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. Archives of Neurology 2005; 62(5): 745-7.
38. McElduff A, McElduff P, Wiley V, and Wilcken B: Neonatal TSH as measured in a congenital hypothyroidism screening program: influence of the mode of delivery. J Clin Endocrinol Metab 2005.
39. McGaughran J, Sinnott S, Dastot-Le Moal F, et al.: Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. American Journal of Medical Genetics. Part A 2005; 137(3): 302-4.
40. Milledge JT, Ades LC, Cooper MG, Jaumees A, and Onikul E: Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. Journal of Paediatrics & Child Health 2005; 41(1-2): 68-71.
41. Mitchell JJ, Wilcken B, Alexander I, et al.: Tetrahydrobiopterin responsive phenylketonuria: The New South Wales experience. Mol Genet Metab 2005.
42. Moore H, Leonard H, de Klerk N, et al.: Health service use in Rett syndrome. Journal of Child Neurology 2005; 20(1): 42-50.
43. Napolitano N, Wiley V, and Pitt JJ: Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening. Journal of Inherited Metabolic Disease 2004; 27(4): 465-71.
44. Neas K, Bennetts B, Carpenter K, et al.: OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease 2005; 28(4): 525-32.
45. Neas K, Peters G, Jackson J, et al.: Chromosome 7 aberrations in a young girl with myelodysplasia and hepatoblastoma: an unusual association. Clin.Dysmorph 2005; in press.
46. Neas KR, Smith JM, Chia N, et al.: Three patients with terminal deletions within the subtelomeric region of chromosome 9q. American Journal of Medical Genetics. Part A 2005; 132(4): 425-30.
47. Pelka GJ, Watson CM, Christodoulou J, and Tam PP: Distinct expression profiles of Mecp2 transcripts with different lengths of 3'UTR in the brain and visceral organs during mouse development. Genomics 2005; 85(4): 441-52.
48. Perry J, Nouri S, La P, et al.: Molecular distinction between true centric fission and pericentric duplication-fission. Human Genetics 2005; 116(4): 300-10.
49. Rae C, Joy P, Harasty J, et al.: Enlarged temporal lobes in Turner syndrome: an X-chromosome effect? Cerebral Cortex 2004; 14(2): 156-64.
50. Sarkozy A, Conti E, Digilio MC, et al.: Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. Journal of Medical Genetics 2004; 41(5).
51. Saxena A, de Lagarde D, Leonard H, et al.: Lost in translation: Translational interference from a recurrent mutation in exon 1 of MECP2. J Med Genet 2005.
52. Shaw CJ, Stankiewicz P, Christodoulou J, Smith E, Jones K, and Lupski JR: A girl with duplication 17p10-p12 associated with a dicentric chromosome. American Journal of Medical Genetics. Part A 2004; 124(2): 173-8.
53. Sinnerbrink IB, and Ades LC: Short stature, sensorineural deafness, ocular abnormalities and severe mental retardation in two siblings. A new syndrome? Clinical Dysmorphology 2004; 13(3): 173-7.
54. Smith A, Das P, O'Reilly J, Patsouris C, and Campbell LJ: Three adults with ALL and dicentric 7;9. Cancer Genet & Cytogenet 2005; ((in press)).
55. Summers KM, Nataatmadja M, Xu D, et al.: Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome. American Journal of Medical Genetics. Part A 2005; 139(1): 2-8.
56. Teutsch SM, Booth DR, Bennetts BH, Heard RN, and Stewart GJ: Association of common T cell activation gene polymorphisms with multiple sclerosis in Australian patients. Journal of Neuroimmunology 2004; 148(1-2): 218-30.
57. Tumer Z, Horn N, Tonnesen T, Christodoulou J, Clarke JT, and Sarkar B: Gene symbol: ATP7A. Disease: Menkes disease. Human Genetics 2004; 114(6).
58. Vlangos CN, Wilson M, Blancato J, Smith AC, and Elsea SH: Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. American Journal of Medical Genetics. Part A 2005; 132(3): 278-82.
59. Waddell L, Wiley V, Carpenter K, et al.: Medium-chain acyl-CoA dehydrogenase deficiency: Genotype-biochemical phenotype correlations. Mol Genet Metab 2005.
60. Watson CM, Pelka GJ, Radziewic T, et al.: Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation. Human Molecular Genetics 2005; 14(13): 1851-61.
61. Weaving LS, Christodoulou J, Williamson SL, et al.: Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. American Journal of Human Genetics 2004; 75(6): 1079-93.
62. Weaving LS, Ellaway CJ, Gecz J, and Christodoulou J: Rett syndrome: clinical review and genetic update. Journal of Medical Genetics 2005; 42(1): 1-7.
63. White SM, Graham JM, Jr., Kerr B, et al.: The adult phenotype in Costello syndrome. American Journal of Medical Genetics. Part A 2005; 136(2): 128-35.
64. Whitelaw CM, Anwar S, Ades LC, Gole GA, Elder JE, and Savarirayan R: Primary trabeculodysgenesis in association with neonatal Marfan syndrome. American Journal of Medical Genetics. Part A 2004; 128(4): 418-21.
65. Whittock NV, Sparrow DB, Wouters MA, et al.: Mutated MESP2 causes spondylocostal dysostosis in humans. American Journal of Human Genetics 2004; 74(6): 1249-54.
66. Wilcken B: Problems in the management of urea cycle disorders. Molecular Genetics & Metabolism 2004; 81(1).
67. Wilcken B: Screening of newborns for metabolic disorders with mass spectrometry. JAMA 2004; 291(12): 1444-5.
68. Wilcken B, 2005, Disorders of sulphur amino acid metabolism, in: Physician's Guide to the Treatment and Follow-up of Metabolic Disorders (N. Blau, G. F. Hoffmann, J. Leonard, and J. T. R. Clarke, eds.), Springer, Berlin, Heidelberg, New York, pp. 105-115.
69. Wilcken B, 2005, Systematic Screening, in: Inborn Metabolic Disease - Diagnosis and Treatment (J. Fernandez, J.-M. Saudubray, G. van den Berghe, and J. Walter, eds.), Springer-Verlag, Heidelberg, pp. 45-52.