Publications by authors named "Sylvia A Metcalfe"

64Publications

Editorial: Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches.

Front Genet 2020 7;11:696. Epub 2020 Aug 7.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2020.00696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427515PMC
August 2020

Human Genetics Society of Australasia Position Statement: Online DNA Testing.

Twin Res Hum Genet 2020 Aug 25;23(4):256-258. Epub 2020 Aug 25.

Murdoch Children's Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/thg.2020.67DOI Listing
August 2020

From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing.

AJOB Empir Bioeth 2020 Jan-Mar;11(1):63-76. Epub 2019 Dec 30.

Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/23294515.2019.1701583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048070PMC
December 2019

Personal genomic testing for nutrition and wellness in Australia: A content analysis of online information.

Nutr Diet 2019 07 28;76(3):263-270. Epub 2019 Jan 28.

Murdoch Children's Research Institute, Royal Children's Hospital, Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1747-0080.12516DOI Listing
July 2019

Australians' perspectives on support around use of personal genomic testing: Findings from the Genioz study.

Eur J Med Genet 2019 May 13;62(5):290-299. Epub 2018 Nov 13.

Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Melbourne, Victoria, Australia; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.11.002DOI Listing
May 2019

Australians' views on personal genomic testing: focus group findings from the Genioz study.

Eur J Hum Genet 2018 08 30;26(8):1101-1112. Epub 2018 Apr 30.

Sydney Health Ethics, Sydney School of Public Health, The University of Sydney, Sydney, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-018-0151-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057916PMC
August 2018

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Genet Med 2018 12 29;20(12):1627-1634. Epub 2018 Mar 29.

Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2018.52DOI Listing
December 2018

Genetic counselling, patient education, and informed decision-making in the genomic era.

Semin Fetal Neonatal Med 2018 04 8;23(2):142-149. Epub 2017 Dec 8.

Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S1744165X173014
Publisher Site
http://dx.doi.org/10.1016/j.siny.2017.11.010DOI Listing
April 2018

Fragile X population carrier screening.

Genet Med 2018 09;20(9):1091-1092

Murdoch Childrens Research Institute, Genetics Education and Health Research, Royal Children's Hospital, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.209DOI Listing
September 2018

Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.

Am J Med Genet A 2016 06 18;170(6):1439-49. Epub 2016 Feb 18.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37603DOI Listing
June 2016

Carrier testing in children and adolescents.

Eur J Med Genet 2015 Dec 10;58(12):659-67. Epub 2015 Nov 10.

Genetics Education and Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital and Department of Paediatrics, The University of Melbourne, Parkville, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.11.006DOI Listing
December 2015

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

Expert Rev Mol Med 2015 Jul 1;17:e13. Epub 2015 Jul 1.

Cyto-molecular Diagnostic Research Laboratory,Victorian Clinical Genetics Services and Murdoch Children's Research Institute,Royal Children's Hospital,Melbourne,Victoria,3052,Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/erm.2015.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4836209PMC
July 2015

Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women.

Neurology 2015 Apr 25;84(16):1631-8. Epub 2015 Mar 25.

From the School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences (K.M.C., C.M.K., M.A.B.), and the Centre for Developmental Disability Health Victoria (J.C.), Monash University, Clayton; the Centre for Epidemiology and Biostatistics (Q.M.B.), Melbourne School of Population and Global Health, University of Melbourne; Genetics Education and Health Research (S.A.M., A.D.A., E.T.), the Cytomolecular Diagnostic Research Laboratory (H.R.S., Y.I., X.L., D.E.G.) and Victorian Clinical Genetics Services (A.D.A.), Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Melbourne; the Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences (S.A.M., A.D.A., E.T.), The University of Melbourne, Parkville; the Department of Developmental Disability Neuropsychiatry and Centre for Healthy Brain Ageing (J.N.T.), UNSW Australia, Sydney; Olga Tennison Autism Research Centre (D.R.H.), School of Psychological Science, La Trobe, Bundoora; and Fragile X Alliance Inc. (Clinic) (J.C.), North Caufield, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001496DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409583PMC
April 2015

Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.

Neurobiol Aging 2015 Mar 26;36(3):1400-8. Epub 2014 Nov 26.

School of Psychological Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2014.11.012DOI Listing
March 2015

A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy.

Eur J Hum Genet 2015 May 30;23(5):575-80. Epub 2014 Jul 30.

Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, Parkville, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402625PMC
May 2015

Age and CGG-repeat length are associated with neuromotor impairments in at-risk females with the FMR1 premutation.

Neurobiol Aging 2014 Sep 20;35(9):2179.e7-13. Epub 2014 Mar 20.

Faculty of Medicine, Nursing and Health Sciences, School of Psychological Sciences, Monash University, Clayton, Victoria, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neurobiolaging.2014.03.018DOI Listing
September 2014

"Taking its toll": the challenges of working in fetal medicine.

Birth 2013 Mar;40(1):52-60

Genetics Education and Health Research Department, Murdoch Childrens Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/birt.12029DOI Listing
March 2013

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.

Eur J Hum Genet 2014 Oct 5;22(10):1225-8. Epub 2014 Feb 5.

1] Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2014.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169537PMC
October 2014

Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: through eye movements.

Brain Cogn 2014 Mar 11;85:201-8. Epub 2014 Jan 11.

School of Psychiatry and Psychology, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bandc.2013.12.006DOI Listing
March 2014

Prenatal β-thalassemia carrier screening in Australia: healthcare professionals' perspectives of clinical practice.

Prenat Diagn 2014 Mar 19;34(3):246-50. Epub 2014 Jan 19.

Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4297DOI Listing
March 2014

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 2014 Jan 26;165B(1):41-51. Epub 2013 Oct 26.

Faculty of Medicine, Nursing, and Health Sciences, School of Psychology & Psychiatry, Monash University, Clayton, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32203DOI Listing
January 2014

Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research.

Genet Med 2014 Mar 12;16(3):207-16. Epub 2013 Sep 12.

1] Murdoch Childrens Research Institute, Parkville, Victoria, Australia [2] Department of Medicine, Monash University, Clayton, Victoria, Australia [3] Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia [4] Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.125DOI Listing
March 2014

Cognitive-motor interference during postural control indicates at-risk cerebellar profiles in females with the FMR1 premutation.

Behav Brain Res 2013 Sep 27;253:329-36. Epub 2013 Jul 27.

School of Psychology & Psychiatry, Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria 3800, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbr.2013.07.033DOI Listing
September 2013

Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia.

Twin Res Hum Genet 2013 Aug;16(4):833-9

Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/thg.2013.43DOI Listing
August 2013

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 Jul 24;15(7):533-40. Epub 2013 Jan 24.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.175DOI Listing
July 2013

Considerations for reporting genome results to patients.

J Paediatr Child Health 2013 Jan;49(1):82

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.12046DOI Listing
January 2013

"He didn't say that thalassaemia might come up" - β-thalassaemia carriers' experiences and attitudes.

J Community Genet 2013 Apr 13;4(2):223-32. Epub 2013 Jan 13.

Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12687-012-0136-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666831PMC
April 2013

"It's about having the choice": stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome.

Am J Med Genet A 2013 Jan 13;161A(1):48-58. Epub 2012 Dec 13.

Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35674DOI Listing
January 2013

Why do people choose not to have screening for hemochromatosis?

Genet Test Mol Biomarkers 2013 Jan 25;17(1):21-4. Epub 2012 Oct 25.

Murdoch Childrens Research Institute, Parkville, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2012.0247DOI Listing
January 2013

Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.

Health Expect 2015 Feb 15;18(1):69-80. Epub 2012 Oct 15.

Department of Paediatrics, The University of Melbourne, Parkville, Vic., Australia; Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Vic., Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hex.12009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5060759PMC
February 2015

Fragile X population carrier screening.

Genet Med 2012 Mar;14(3):350; author reply 351

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2011.79DOI Listing
March 2012

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

Eur J Hum Genet 2012 Aug 8;20(8):825-30. Epub 2012 Feb 8.

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2012.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3400727PMC
August 2012

Carrier screening in preconception consultation in primary care.

J Community Genet 2012 Jul 20;3(3):193-203. Epub 2011 Dec 20.

Murdoch Childrens Research Institute, Royal Children's Hospital and Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, 3052, Australia,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12687-011-0071-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3419291PMC
July 2012

Development of a questionnaire for evaluating genetics education in general practice.

J Community Genet 2010 Dec 16;1(4):175-83. Epub 2010 Oct 16.

Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, 3052, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12687-010-0027-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185998PMC
December 2010

"It's challenging on a personal level"--exploring the 'lived experience' of Australian and Canadian prenatal genetic counselors.

J Genet Couns 2010 Dec 24;19(6):640-52. Epub 2010 Jul 24.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-010-9315-zDOI Listing
December 2010

Carrier screening for beta-thalassaemia: a review of international practice.

Eur J Hum Genet 2010 Oct 23;18(10):1077-83. Epub 2010 Jun 23.

Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2010.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987452PMC
October 2010

A systematic review of population screening for fragile X syndrome.

Genet Med 2010 Jul;12(7):396-410

Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3181e38fb6DOI Listing
July 2010

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

Eur J Hum Genet 2010 Oct 26;18(10):1084-9. Epub 2010 May 26.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2010.78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987447PMC
October 2010

"Testing times, challenging choices": an Australian study of prenatal genetic counseling.

J Genet Couns 2010 Feb 2;19(1):22-37. Epub 2009 Oct 2.

Genetic Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Victoria, 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-009-9248-6DOI Listing
February 2010

There's cancer in the family.

Aust Fam Physician 2009 Apr;38(4):194-8

Discipline of General Practice, University of Western Australia, Australia.

View Article

Download full-text PDF

Source
April 2009

Disclosing genetic research results after death of pediatric patients.

JAMA 2008 Oct;300(14):1693-5

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.300.14.1693DOI Listing
October 2008

The importance of program evaluation: how can it be applied to diverse genetics education settings?

J Genet Couns 2008 Apr 5;17(2):170-9. Epub 2008 Feb 5.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-007-9138-8DOI Listing
April 2008

'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening.

Eur J Hum Genet 2008 Apr 5;16(4):435-44. Epub 2007 Dec 5.

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201965DOI Listing
April 2008

Genetics and blood--haemoglobinopathies and clotting disorders.

Aust Fam Physician 2007 Oct;36(10):812-9

Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria.

View Article

Download full-text PDF

Source
October 2007

Genetics and preventive health care.

Aust Fam Physician 2007 Oct;36(10):808-11

Discipline of General Practice, University of Western Australia.

View Article

Download full-text PDF

Source
October 2007

Family genetics.

Aust Fam Physician 2007 Oct;36(10):802-5

The Centre for Genetics Education of NSW Health, Faculty of Medicine, Sydney, New South Wales.

View Article

Download full-text PDF

Source
October 2007

Population genetic screening.

Aust Fam Physician 2007 Oct;36(10):794-800

Genetics Education and Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria.

View Article

Download full-text PDF

Source
October 2007

A model for the development of genetics education programs for health professionals.

Genet Med 2007 Jul;9(7):451-7

Genetic Health Services Victoria, Parkville, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/gim.0b013e3180a6eb69DOI Listing
July 2007

It's "back to school" for genetic screening.

Eur J Hum Genet 2006 Apr;14(4):384-9

Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201581DOI Listing
April 2006

Tay Sachs disease carrier screening in schools: educational alternatives and cheekbrush sampling.

Genet Med 2005 Nov-Dec;7(9):626-32

Murdoch Childrens Research Institute, Bruce Lefroy Centre for Genetic Health Research, Department of Paediatrics, University of Melbourne, Royal Children's Hospital.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000187162.28070.a7DOI Listing
June 2006