On this page:

• Genetic Metabolic Disorders Research Unit
• Eye and Developmental Genetics Research Group
• NSW Biochemical Genetics Service Research Group
• NSW Newborn Screening Programme Research Group
• Skeletal and Lysosomal Disorders Research Group
• Clinical Genetics Department

Genetic Metabolic Disorders Research Unit

Archer HL, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke AJ. 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. 2007: 44 (2); 148 – 152.

Chan PA, Duraisamy S, Murphy JA, Miller PJ, McBride C, Bond JP, Raevaara T, Ollila S, Nyström M, Grimm A, Christodoulou J, Oetting WS, Greenblatt MS. Predicting benign versus pathogenic genetic variants: validation of four methods of comparative sequence analysis in human disease genes CDKN2A, MLH1, MECP2, and Tyrosinase. Hum Mut 2007: 28 (7); 683 – 693.

Schindeler S, Ghosh–Jerath S, Thompson S, Rocca A, Joy P, Kemp A, Rae C, Green K, Wilcken B, Christodoulou J. The Effects of Large Neutral Amino Acid Supplements in PKU: an MRS and Neuropsychological Study. Hum Molec Genet 2007: 91(1); 48 – 54.

Jian L, Nagarajan L, de Klerk N, Ravine D, Christodoulou J, Leonard H. Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Pediatr Neurol 2007: 11(5); 310-317.

Chiong MA, Carpenter K, Christodoulou J. Low citrulline may not be diagnostic of ornithine transcarbamoylase deficiency: a case report. J Inher Metab Dis 2007: (30); 405.

Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RKJ, Christodoulou J. Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Molec Genet Metab 2007: 92(1-2); 109-114.

Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet 2007: 15(12); 1218-1229.

de Brouwer APM, Williams KL, Duley J, van Kuilenburg ABP, Nabuurs S, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJG, Roeffen M, Hamel BCJ, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet 2007: 81(3); 507-518.

Singh-Grewal D, Chaitow J, Aksentijevich I, Christodoulou J . Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Ann Rheum Dis 2007: 66; 1541.

Cotton RGH, Auerbach AD, Brown AF, Carrera P, Christodoulou J, Claustres M, Compton J, Cox DW, De Baere E, den Dunnen JT, Greenblatt M, Fujiwara M, Hilbert P, Jani A, Lehvaslaiho H, Nebert D, Verma I, Vihinen M: 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. 2007: 28(10); 931-932.

Alexander IE, Cunningham SC, Logan GJ, Christodoulou J. Potential of AAV vectors in the treatment of metabolic disease. Gene Therapy 2008: 15; 831-839.

Kondo M, Gray LJ, Pelka GJ, Christodoulou J, Tam PPL, Hannan AJ. Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndrome: Mecp2 gene dosage effects and BDNF expression. Eur J Neurosci 2008: 27; 3342-3350

Bijarnia S, Wiley V, Carpenter K, Christodoulou J, Ellaway CJ, Wilcken B. Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis 2008: 31(4); 503-507.

Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF,Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet. 2008: 83(4); 468-478.

Singh J, Saxena A, Christodoulou J, Ravine D. MECP2 genomic structure and function: insights from ENCODE. Nucleic Acids Res. 2008: 36(19); 6035-6047.

Ben Zeev B, Bebbington A, Ho G, Leonard H, de Klerk N, Gak E, Vecksler M, Christodoulou J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome. Neurology. 2009: 72; 1242-1247.

Ho G, Walter J, Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. J Inher Metab Dis 2008 Nov 7. [Epub ahead of print].

Shanti B, Sillink M, Bhattarchaya K, Howard N, Carpenter K, Fietz M, Clayton P, Christodoulou J. Congenital Disorder of Glycosylation type 1a: Hyperinsulinaemic hypoglycemia as a leading symptom in two patients with phosphomannomutase deficiency. J Inher Metab Dis – 2009 Apr 27. [Epub ahead of print].

Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carman P, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk E, Knight G, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A. Newborn screening by tandem mass spectrometry: a cohort study comparing outcome in screened and clinically diagnosed patients at six years of age. Pediatr – accepted 23rd March 2009.

Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Al Raisi Z, Turner SJ, Brown NJ, D Desai T, Haan E, Hackett A, Turner G, Christodoulou J, Leonard H, Gill D, Stratton M, Gecz J, Scheffer IE. Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. J Med Genet - accepted.

Hamvas A, Nogee LM, Wegner DJ, DePass K, Christodoulou J, Bennetts B, McQuade LR, Gray PH, Deterding RR, Carroll TR, Kammesheidt A, Kasch LM, Kulkarni S, Cole FS. Inherited surfactant deficiency due to uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily A, member 3 genes. J Pediatr – accepted 3rd June 2009

Relf BL, Larkin EK, de Torres C, Baur LA, Christodoulou J, Waters KA. Genomewide linkage of Obstructive Sleep Apnea and High Density Lipoprotein Cholesterol in a Filipino Family. J Sleep Res – accepted 2nd June 2009.

Eye and Developmental Genetics Research Group

Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PPL, Grigg JR, Flaherty M, Gole G, Jamieson RV. Novel SOX2 partner-factor domain mutation in a four generation family. European Journal of Human Genetics, Epub 2009 May 27.

Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PPL, Grigg JR, Peters GB, Jamieson RV. Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Twin Research and Human Genetics, 2008, Aug;11(4):412-21.

Lewis SL, Khoo PL, De Young RA, Steiner K, Willcock C, Mukhopadhyay M, Westphal H, Jamieson RV, Robb L, Tam PP. Dkk1 and Wnt3 interact to control head morphogenesis in the mouse. Development. 2008 May;135(10):1791-801.

Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW , Lovicu FJ, Tam PPL, Scambler P, Lloyd IC, Donnai D, Black GCM. Characterisation 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. Human Mutation, 2007, 28 (10): 968-977.

Perveen R, Favor J, Jamieson RV, Ray DW, Black GCM. A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. Human Molecular Genetics, 2007 16 (9): 1030-8.

NSW Biochemical Genetics Service Research Group

Tan ES, Wiley V, Carpenter K H, Wilcken B. Non-Ketotic Hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab 2007;90(4):446-8.

Bijarnia S, Wiley V, Carpenter K H, Christodoulou J, Ellaway CJ, Wilcken B. Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis 2008 Aug;31(4):503-7.

Bruce CR, Hoy AJ, Turner N, Watt MJ, Allen TL, Carpenter K, et al. Overexpression of carnitine palmitoyltransferase-1 in skeletal muscle is sufficient to enhance fatty acid oxidation and improve high fat diet-induced insulin resistance. Diabetes 2008 Dec 10.

Cunningham SC, Spinoulas A, Carpenter K H, Wilcken B, Kuchel PW, Alexander IE. AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spf(ash) Mice. Mol Ther 2009;17(8). 1340-6.

Ginn SL, Cunningham SC, Zheng M, Spinoulas A, Carpenter K H, Alexander IE. In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver. Gene Ther 2009 Jun;16(6):820-3.

Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K H, Fietz M, et al. Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. J Inherit Metab Dis 2009 Apr 27.

NSW Newborn Screening Programme Research Group

Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A. Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. Pediatrics. 2009 Aug;124(2):e241-8.

Norman R, Haas M, Chaplin M, Joy P, Wilcken B. Economic evaluation of tandem mass spectrometry newborn screening in Australia. Pediatrics. 2009 Feb;123(2):451-7.

Wilcken B, Haas M, Joy P, Wiley V, Chaplin M, Black C, Fletcher J, McGill J, Boneh A. Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet. 2007 Jan 6;369(9555):37-42

Skeletal and Lysosomal Disorders Research Group

Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a distinct vertebral phenotype. American Journal Human Genetics 78:28-37, 2006.

Gabbett MT, Jones K, Cowell CT, Sillence DO, Wilson MJ. Severe neonatal hyperparathyroidism an important clue to the aetiology. J Paediatrics and Child Health 42:813-816, 2006.

Superti-Furga A, Unger S, Sillence D and the Nosology Group of the International Skeletal Dysplasia Society. Nosology and classification of genetic skeletal disorders: 2006 revision. American Journal of Medical Genetics Part A 143A:1-18, 2007.

Ho MSP, Tsang KY, Lo RLK, Chan TWY, Ng VCW, Sillence DO, Boot-Handford RP, Gibson G, Cole WG, Cheung, KMC, Cheah KSE and Chan D. COL10A1 nonsense and frameshift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. Human Molecular Genetics 16:1201-1215, 2007.

Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Couke P, Sillence D, Mortier GR. Czech dysplasia metatarsal type: another type II collagen disorder. European Journal of Human Genetics 15:1209-1265, 2007.

Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky V, Zasloff M, Ganguly A, Shore EM. Early Diagnosis of Fibrodysplasia Ossificans Progressiva. Pediatrics 121(5):e1295-e1300, 2008.

Gleeson H, Wiltshire E, Grimwood K, Briody J, Hall J, Chaitow J, Sillence D, Cowell C, Munns C. Childhood Chronic Recurrent Multifocal Osteomyelitis: Pamidronate Therapy Decreases Pain and Improves Vertebral Shape. Journal of Rheumatology 35:707-712, 2008.

The International Clinical Consortium on FOP (Sillence D, Contributing member). The Medical Management of Fibrodysplasia Ossificans Progressiva: Current Treatment Considerations. Clinical Proceedings The International Clinical Consortium on FOP 3(1):1-82, 2008.

Huber C, Delezoide AL, Guimiot F, Baumann C, malan V, Le Merrer M, Bezerra Da Silva D, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovanucci-Uzielli ML, Graul-Neumann L, van Hagen JM, van hest L, Horovitz D, Melki J, Partsch J, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A and Cormier-Daire V. A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European Journal of Human Genetics 17:395-400, 2009.

Bijarnia S, Shaw P, Vimpani A, Smith R, Pacey V, O'Grady H, Christodoulou J, Sillence DO. Combined Enzyme Replacement and Haematopoietic Stem Cell Transplantation in Hurler Syndrome. Journal of Paediatrics and Child Health (in press) 2009.

Ramjan KA, Roscioli T, Rutsch F, Sillence DO, Munns CF. Generalized Arterial Calcification of Infancy: Successful Treatment with Nitrogen-Containing Bisphosphonates. Nature Clinical Practice – Endocrinology and Metabolism 5:167-172, 2009.

Harmatz P, Giugliani R, Schwartz IV, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C; MPS VI Study Group (Sillence DO et al). Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis type VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab. 94:469-75, 2008.

Ireland P, Ault J, Pacey V, Sillence D et al. Developmental milestones in infants and young Australasian children with Achondroplasia. Journal of Developmental and Behavioural Paediatrics (In Press) 2009.

Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The clinical indistinction between Hypermobility of Ehlers-Danlos syndrome and the Joint Hypermobility syndrome. (a.k.a Hypermobility syndrome). American Journal of medical genetics A (In press) 2009.

Bruno Reversade, David Sillence, Stefan Mundlos and Uwe Kornak et al. Mutations in PYCR1 cause Cutis Laxa with Progeroid features. Nature Genetics (in press) 2009

Clinical Genetics Department

Book Chapters

M Wilson, M Goossens, F Dastot-Le Moal, D Mowat. "ZFHX1B and Mowat-Wilson syndrome", in CJ Epstein, RP Erickson, A Wynshaw-Boris (eds.) Inborn Errors of Development (2nd edition), Oxford University Press, New York, 2008

Mowat D and Wilson M. "Mowat-Wilson Syndrome", in Suzanne B Cassidy and Judith E Allanson (eds), Management of Genetic Syndromes (3rd edition), Wiley-Liss, New Jersey (in press).

Journal Articles

Gil-Rodr'guez, Mar'a Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, Kaj Lillquist, Victoria Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, and Ian D. Krantz. 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 2007 Mar;80(3):485-94

Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. ZFHX1B mutations in patients with Mowat-Wilson syndrome Hum Mutat 2007 Apr;28(4):313-21.

Blue GM, Mah JM, Cole AD, Lal V, Wilson MJ, Chard RB, Sholler GF, Hawker RE, Sherwood MC, Winlaw DS. Brief Communication: The negative impact of Alagille syndrome on survival of infants with pulmonary atresia. Journal of Thoracic and Cardiovascular Surgery 2007 Apr;133(4):1094-6

Meredith Wilson, Gregory Peters, Bruce Bennetts, George McGillivray, Zan He Wu, Christopher Poon, Elizabeth Algar (Rapid Publication). The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: Two new reports. Am J Med Genet A. 2008 Jan 15;146(2):137-48.

Chopra M, Lawson J, Wilson M, Mowat D. Tuberous sclerosis –what's new…the role of gene testing". E-letter, Arch Dis Ch published online July 2 2008

Kleefstra T, van Zelst-Stams WA, Nillesen WM, Cormier-Daire V, Houge G, Foulds N, van Dooren M, Willemsen MH, Pfundt R, Turner A, Wilson M, McGaughran J, Rauch A, Zenker M, Adam M, Innes M, Davies C, González-Meneses López A, Casalone R, Weber A, Brueton LA, Delicado Navarro A, Palomares Bralo M, Venselaar H, Stegmann SP, Yntema HG, van Bokhoven H. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. J Med Genet 2009 Mar 4. [Epub ahead of print]

Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Savarirayan R, Peters G. Phenotypic Expansion and Further Characterization of the 17q21.31 Microdeletion Syndrome. J Med Genet. 2009 Jul;46(7):480-9. Epub 2009 May 15

Collins FA. Genetics terminology for respiratory physicians. Paediatr Respir Rev. 2009 Sep;10(3):124-33. Epub 2009 Jun 2.

Cavalcanti DP, Huber C, Le Quan Sang KH, Baujat G, Collins F, Delezoide AL, Dagoneau N, Le Merrer M, Martinovic J, Mello MF, Vekemans M, Munnich A, Cormier-Daire V. Mutation in IFT80 gene in a foetus with a phenotype of Verma-Naumoff provides molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet. 2009 Aug 11. [Epub ahead of print]

Kaplan FS, Xu M, Glaser DL, Collins F, Connor M, Kitterman J, Sillence D, Zackai E, Ravitsky , Zasloff M, Ganguly A, Shore EM. Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics. 2008 May;121(5):e1295-300

Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA. Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clin Genet. 2008 Apr;73(4):353-9.

Murrell DF, Pasmooij AM, Pas HH, Marr P, Klingberg S, Pfendner E, Uitto J, Sadowski S, Collins F, Widmer R, Jonkman MF. Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects. J Invest Dermatol. 2007 Jul;127(7):1772-5.

Algar EM, St Heaps L, Darmanian A, Dagar V, Prawitt D, Peters GB, Collins F. Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis. Cancer Res. 2007 Mar 1;67(5):2360-5.

Peat RA, Baker NL, Jones KJ, North KN, Lamandé SR. Variable penetrance of COL6A1 null mutations: implications for prenatal diagnosis and genetic counselling in Ullrich congenital muscular dystrophy families. Neuromuscular Disorders 17(7):547-57 (2007).

Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. Epub 2008 Nov 20.