Metcalfe SA - Search Results

1

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Godler DE, Inaba Y, Schwartz CE, Bui QM, Shi EZ, Li X, Herlihy AS, Skinner C, Hagerman RJ, Francis D, Amor DJ, Metcalfe SA, Hopper JL, Slater HR. Godler DE, et al. Among authors: metcalfe sa. Expert Rev Mol Med. 2015 Jul 1;17:e13. doi: 10.1017/erm.2015.11. Expert Rev Mol Med. 2015. PMID: 26132880 Free PMC article. Review.

2

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.

Metcalfe S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J. Metcalfe S, et al. Genet Med. 2008 Jul;10(7):525-35. doi: 10.1097/gim.0b013e31817c036e. Genet Med. 2008. PMID: 18580686

3

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening.

McClaren BJ, Metcalfe SA, Aitken M, Massie RJ, Ukoumunne OC, Amor DJ. McClaren BJ, et al. Among authors: metcalfe sa. Eur J Hum Genet. 2010 Oct;18(10):1084-9. doi: 10.1038/ejhg.2010.78. Epub 2010 May 26. Eur J Hum Genet. 2010. PMID: 20512163 Free PMC article.

4

A systematic review of population screening for fragile X syndrome.

Hill MK, Archibald AD, Cohen J, Metcalfe SA. Hill MK, et al. Among authors: metcalfe sa. Genet Med. 2010 Jul;12(7):396-410. doi: 10.1097/GIM.0b013e3181e38fb6. Genet Med. 2010. PMID: 20548240 Free article. Review.

5

A case for cystic fibrosis carrier testing in the general population.

McClaren BJ, Metcalfe SA, Amor DJ, Aitken M, Massie J. McClaren BJ, et al. Among authors: metcalfe sa. Med J Aust. 2011 Feb 21;194(4):208-9. doi: 10.5694/j.1326-5377.2011.tb03781.x. Med J Aust. 2011. PMID: 21401469 No abstract available.

6

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice.

Brett GR, Metcalfe SA, Amor DJ, Halliday JL. Brett GR, et al. Among authors: metcalfe sa. Eur J Hum Genet. 2012 Aug;20(8):825-30. doi: 10.1038/ejhg.2012.13. Epub 2012 Feb 8. Eur J Hum Genet. 2012. PMID: 22317975 Free PMC article.

7

Inaba Y, Herlihy AS, Schwartz CE, Skinner C, Bui QM, Cobb J, Shi EZ, Francis D, Arvaj A, Amor DJ, Pope K, Wotton T, Cohen J, Hewitt JK, Hagerman RJ, Metcalfe SA, Hopper JL, Loesch DZ, Slater HR, Godler DE. Inaba Y, et al. Among authors: metcalfe sa. Genet Med. 2013 Apr;15(4):290-8. doi: 10.1038/gim.2012.134. Epub 2012 Oct 11. Genet Med. 2013. PMID: 23060046 Free article.

8

Considerations for reporting genome results to patients.

Turbitt E, Amor DJ, Halliday JL, Metcalfe SA. Turbitt E, et al. Among authors: metcalfe sa. J Paediatr Child Health. 2013 Jan;49(1):82. doi: 10.1111/jpc.12046. J Paediatr Child Health. 2013. PMID: 23320589 No abstract available.

9

Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing.

McClaren BJ, Aitken M, Massie J, Amor D, Ukoumunne OC, Metcalfe SA. McClaren BJ, et al. Among authors: metcalfe sa. Genet Med. 2013 Jul;15(7):533-40. doi: 10.1038/gim.2012.175. Epub 2013 Jan 24. Genet Med. 2013. PMID: 23348769 Free article.

10

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

Bourke E, Snow P, Herlihy A, Amor D, Metcalfe S. Bourke E, et al. Eur J Hum Genet. 2014 Jan;22(1):18-24. doi: 10.1038/ejhg.2013.102. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695282 Free PMC article.

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