Quality standards for DNA sequence variation databases to improve clinical management under development in Australia von Bennetts, B., Caramins, M., Hsu, A., Lau, C., Mead, S., Meldrum, C., Smith, T.D., Suthers, G., Taylor, G.R., Cotton, R.G.H., Tyrrell, V.

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Genetically confirmed clinical Huntington’s disease with no observable cell loss von Caramins, M, Halliday, G, McCusker, E, Trent, R J

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Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease von Yu, B, Sawyer, N A, Caramins, M, Yuan, Z G, Saunderson, R B, Pamphlett, R, Richmond, D R, Jeremy, R W, Trent, R J

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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1) von Caramins, Melody, Colebatch, James G, Bainbridge, Matthew N, Scherer, Steven S, Abrams, Charles K, Hackett, Emma L, Freidin, Mona M, Jhangiani, Shalini N, Wang, Min, Wu, Yuanqing, Muzny, Donna M, Lindeman, Robert, Gibbs, Richard A

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Challenges for clinical genetic DNA testing von Trent, Ronald JA, Yu, Bing, Caramins, Melody

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A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss von Caramins, Melody C., Saville, Toni, Shakeshaft, Rebecca, Mullan, Glenda L., Miller, Briar, Yip, Moh-Ying, Buckley, Michael F.

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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study von James, Paul A., Culling, Bronwyn, Mullan, Glenda, Jenkins, Mark, Elakis, George, Turner, Anne M., Mowat, David M., Wilson, Meredith, Anderson, Peter, Savarirayan, Ravi, Cliffe, Simon T., Caramins, Melody, Buckley, Michael F., Tucker, Kathy, Roscioli, Tony

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