S. Healey

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers (2008)

Antoniou, A.C., Spurdle, A.B., Sinilnikova, O.M., Healey, S., Pooley, K.A., Schmutzler, R.K., ...

Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that cluster in families....

Mutation analysis of five candidate genes in familial breast cancer (2007)

Marsh, A., Healey, S., Lewis, A., Spurdle, A.B., Kedda, M.A., Khanna, K.K., ...

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? (2007)

Lovelock, P., Spurdle, A., Mok, M., Farrugia, D., Lakhani, S., Healey, S., ...

The VLBA Imaging and Polarimetry Survey at 5 GHz (2006)

Helmboldt, J. F., Taylor, G. B., Tremblay, S., Fassnacht, C. D., Walker, R. C., Myers, S. T., ...

We present the first results of the VLBA Imaging and Polarimetry Survey (VIPS), a 5 GHz VLBI survey of 1,127 sources with flat radio spectra. Through automated data reduction and imaging routines, we...

A title to show School of Nursing (2004)

Rogers, S., Bryant, S., Healey, S.

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region (1999)

Thomas, NS, Browne, CE, Oley, C, Healey, S, Crolla, JA

A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical...

BamHI RFLP of the inhibin beta B (INHBB) chain gene on chromosome 2

Chenevix-Trench, G., Southall, M., Healey, S., Stewart, A., Forage, R., Martin, N.G.

BamHI RFLP of the inhibin beta B (INHBB) chain gene on chromosome 2

Chenevix-Trench, G., Southall, M., Healey, S., Stewart, A., Forage, R., Martin, N.G.

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

Lovelock, PK, Healey, S, Au, W, Sum, EYM, Tesoriero, A, Wong, EM, ...

Background: The vast majority of BRCA1 missense sequence variants remain uncharacterised for their possible effect on protein expression and function, and therefore are unclassified in terms of their...

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance

Chenevix-Trench, G, Healey, S, Lakhani, S, Waring, P, Cummings, M, Brinkworth, R, ...

Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic counseling. A multifactorial likelihood model for classification of...

Unintentional fatal injuries arising from unpaid work at home

Driscoll, T, Mitchell, R, Hendrie, A, Healey, S, Mandryk, J, Hull, B

Objective: Unpaid work in and around the home is a common and potentially high risk activity, yet there is limited information about the circumstances surrounding resulting injuries. This study aimed...

Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci

MacMillan, J, Voisey, J, Healey, S, Martin, N

Segregation ratio distortion (SRD) with preferential transmission of expanded CAG alleles has been reported in Machado-Joseph disease (MJD/SCA3), spinocerebellar ataxia type I (SCA1), and...

Coverage of work related fatalities in Australia by compensation and occupational health and safety agencies

Driscoll, T, Mitchell, R, Mandryk, J, Healey, S, Hendrie, L, Hull, B

Aims: To determine the levels of coverage of work related traumatic deaths by official occupational health and safety (OHS) and compensation agencies in Australia, to allow better understanding and...