Sylvia A Metcalfe

Author PubWeight™ 27.94‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A systematic review of population screening for fragile X syndrome. Genet Med 2010 1.87
2 Carrier screening for beta-thalassaemia: a review of international practice. Eur J Hum Genet 2010 1.35
3 Disclosing genetic research results after death of pediatric patients. JAMA 2008 1.26
4 An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. Eur J Hum Genet 2012 1.17
5 Multimedia messages in genetics: design, development, and evaluation of a computer-based instructional resource for secondary school students in a Tay Sachs disease carrier screening program. Genet Med 2004 1.00
6 A model for the development of genetics education programs for health professionals. Genet Med 2007 0.98
7 Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling. Genet Med 2005 0.95
8 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet 2007 0.91
9 Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study. Genet Med 2012 0.90
10 "It's something I need to consider": decisions about carrier screening for fragile X syndrome in a population of non-pregnant women. Am J Med Genet A 2009 0.88
11 "It's about having the choice": stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome. Am J Med Genet A 2012 0.87
12 Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers. Am J Med Genet B Neuropsychiatr Genet 2013 0.86
13 "It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors. J Genet Couns 2010 0.85
14 "Testing times, challenging choices": an Australian study of prenatal genetic counseling. J Genet Couns 2009 0.84
15 Cognitive-motor interference during postural control indicates at-risk cerebellar profiles in females with the FMR1 premutation. Behav Brain Res 2013 0.83
16 Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia. Twin Res Hum Genet 2013 0.82
17 Genetics and preventive health care. Aust Fam Physician 2007 0.82
18 Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention. BMC Med Genet 2014 0.82
19 Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening. Health Expect 2012 0.81
20 "Taking its toll": the challenges of working in fetal medicine. Birth 2013 0.80
21 Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening. Eur J Hum Genet 2010 0.80
22 Prenatal β-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice. Prenat Diagn 2014 0.79
23 A case for cystic fibrosis carrier testing in the general population. Med J Aust 2011 0.78
24 Cascade carrier testing after a child is diagnosed with cystic fibrosis through newborn screening: investigating why most relatives do not have testing. Genet Med 2013 0.78
25 Fragile X population carrier screening. Genet Med 2012 0.77
26 Development of a questionnaire for evaluating genetics education in general practice. J Community Genet 2010 0.77
27 Family genetics. Aust Fam Physician 2007 0.77
28 There's cancer in the family. Aust Fam Physician 2009 0.76
29 Considerations for reporting genome results to patients. J Paediatr Child Health 2013 0.75
30 ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible. Eur J Hum Genet 2012 0.75
31 "He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes. J Community Genet 2013 0.75
32 Responsible implementation of expanded carrier screening. Eur J Hum Genet 2017 0.75
33 Why do people choose not to have screening for hemochromatosis? Genet Test Mol Biomarkers 2012 0.75
34 It's "back to school" for genetic screening. Eur J Hum Genet 2006 0.75