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Quality standards for DNA sequence variation databases to improve clinical management under development in Australia
by
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.
Published in
Applied & translational genomics
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Genetically confirmed clinical Huntington’s disease with no observable cell loss
by
Caramins, M
,
Halliday, G
,
McCusker, E
,
Trent, R J
Published in
Journal of neurology, neurosurgery and psychiatry
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Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease
by
Yu, B
,
Sawyer, N A
,
Caramins, M
,
Yuan, Z G
,
Saunderson, R B
,
Pamphlett, R
,
Richmond, D R
,
Jeremy, R W
,
Trent, R J
Published in
Journal of clinical pathology
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Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)
by
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
Published in
Human molecular genetics
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A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss
by
Caramins, Melody C.
,
Saville, Toni
,
Shakeshaft, Rebecca
,
Mullan, Glenda L.
,
Miller, Briar
,
Yip, Moh-Ying
,
Buckley, Michael F.
Published in
Genetics in medicine
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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study
by
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
Published in
Genes chromosomes & cancer
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