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Prof Eric Haan

Current relevant research interests include:

• Epidemiology of birth defects and cerebral palsy
• Birth defects following assisted reproductive technology
• Thrombophilias and cerebral palsy
• Array technology for the detection of chromosomal imbalance

Prof Haan is also a member of:

• Human Genetics Society of Australasia
• American Society of Human Genetics
• British Society of Human Genetics

Recent Publications

White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E , Gibson K, Halliday JL and Bankier A. Growth, behaviour and clinical findings in 27 patients with Kabuki syndrome. Am J Med Genet (in press)

Lobb EA, Butow PN, Meiser B, Barratt A, Gaff C, Young MA, Haan E , Suthers G, Gattas M and Tucker K. Communication and information-giving behaviours in high risk breast cancer consultations: influence on patient outcomes. Brit J Cancer (in press)

Pountney DL, Huang Y, Burns RJ, Haan E , Thompson PD, Blumbergs PC and Gai WP. SUMO-1 marks the nuclear inclusions in familial neuronal intranuclear inclusion disease. Exp Neurol 184: 436-46, 2003.

Field MJ, Grattan-Smith P, Piper SM, Thompson EM, Haan EA , Edwards M, James S, Wilkinson I and Ades LC. PEHO and PEHO-like syndromes – Report of five Australian cases. Am J Med Genet 122A: 6-12, 2003.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E , Sutherland GR, Ropers HH and Gecz J. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72: 1401-11, 2003

Yu S, Manson J, White S, Bourne A, Waddy H, Davis M and Haan E . X-linked myotubular myopathy in a family with three adult survivors. Clin Genet 64: 148-152, 2003.

Haan E . The clinical geneticist and the “new genetics”. MJA 178: 458-462, 2003.

Smith A, Egan J, Ridley G, Haan E , Montgomery P, Williams K, Elliott E. Birth prevalence of Prader-Willi syndrome in Australia. Arch Dis Child 88: 263-264, 2003.

Davis MR, Haan E , Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sánchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Müller CR and Laing NG. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscular Disorders 13: 151-7, 2003.

Daniel A, Baker E, Chia N, Haan E , Malafiej, Hinton L, Clarke N, Ades L, Darmanian A and Callen D. Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: a cause of minute terminal chromosomal imbalances. Am J Med Genet 117A: 57-64, 2003.