Sylvia Metcalfe

Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education

Belinda J McClaren, Emily A King, Erin Crellin, Clara Gaff, Sylvia A Metcalfe, Amy Nisselle

Journal article  |  2020  |  Frontiers in Genetics

Despite some early implementation of genomic medicine globally, there is a lack of rigorous, large-scale assessments of medical sp..

Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning

Belinda J McClaren, Erin Crellin, Monika Janinski, Amy E Nisselle, Larissa Ng, Sylvia A Metcalfe, Clara L Gaff

Journal article  |  2020  |  Frontiers in Genetics

With the demand for genomic investigations increasing, medical specialists will need to, and are beginning to, practice genomic me..

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

Jacqueline Savard, Chriselle Hickerton, Sylvia A Metcalfe, Clara Gaff, Anna Middleton, Ainsley J Newson

Journal article  |  2020  |  AJOB Empirical Bioethics

Background: Personal genomic testing (PGT) offers individuals genetic information about relationships, wellness, sporting ability,..

Lessons learnt from implementing change in newborn bloodspot screening processes over more than a decade: Midwives, genetics and education

Amy Nisselle, Michelle Bishop, Taryn Charles, Sally Morrissy, Emily King, Sylvia Metcalfe, Clara Gaff

Journal article  |  2019  |  Midwifery

OBJECTIVE: To explore midwives' roles and education requirements in newborn bloodspot screening (NBS) for genetic conditions, as p..

Ensuring Best Practice in Genomic Education and Evaluation: A Program Logic Approach

Amy Nisselle, Melissa Martyn, Helen Jordan, Nadia Kaunein, Alison McEwen, Chirag Patel, Bronwyn Terrill, Michelle Bishop, Sylvia Metcalfe, Clara Gaff

Journal article  |  2019  |  Frontiers in Genetics

Targeted genomic education and training of professionals have been identified as core components of strategies and implementation ..

Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy

Erin Crellin, Belinda McClaren, Amy Nisselle, Stephanie Best, Clara Gaff, Sylvia Metcalfe

Journal article  |  2019  |  Frontiers in Genetics

Genomic counselling: what are we doing and what do we think we should be doing? - A professional status survey of genetic counsellors in Australasia

A Nisselle, I Macciocca, K Dunlop, S Metcalfe, C Gaff

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

The changing clinical practice of genomic medicine: what are the preferences of and education/training needs of health professionals?

B McClaren, Z Prichard, AE Nisselle, E Crellin, M Janinski, L Ng, E Zilliacus, K Dunlop, D Graves, B Terrill, A Newson, C Gaff, SA Metcalfe

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

"I just wanted answers": Exploring personal genomic testing for nutrition and wellness

E Tutty, C Hickerton, M Adamski, J Savard, B Terrill, A Newson, C Gaff, K Gray, A Middleton, B Wilson, S Metcalfe

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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

Erin Tutty, Chriselle Hickerton, Melissa M Adamski, Sylvia A Metcalfe

Journal article  |  2019  |  Nutrition & Dietetics

Working with the public: engaging with consumers about the ethics of and decision to pursue personal genomic testing

J Savard, C Hickerton, S Metcalfe, B Terrill, A Newson, C Gaff, K Gray, A Middleton, B Wilson

Conference Proceedings  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

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

Sylvia A Metcalfe, Chriselle Hickerton, Jacqueline Savard, Elaine Stackpoole, Rigan Tytherleigh, Erin Tutty, Bronwyn Terrill, Erin Turbitt, Kathleen Gray, Anna Middleton, Brenda Wilson, Ainsley J Newson, Clara Gaff

Journal article  |  2019  |  European Journal of Medical Genetics

Australians' views and experience of personal genomic testing: survey findings from the Genioz study

Jacqueline Savard, Chriselle Hickerton, Rigan Tytherleigh, Bronwyn Terrill, Erin Turbitt, Ainsley J Newson, Brenda Wilson, Kathleen Gray, Clara Gaff, Anna Middleton, Elaine Stackpoole, Sylvia A Metcalfe

Journal article  |  2019  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census

Amy Nisselle, Ivan Macciocca, Fiona McKenzie, Hannah Vuong, Kate Dunlop, Belinda McClaren, Sylvia Metcalfe, Clara Gaff

Journal article  |  2019  |  Journal of Genetic Counseling

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

Claudine M Kraan, Quang M Bui, Mike Field, Alison D Archibald, Sylvia A Metcalfe, Louise M Christie, Bruce H Bennetts, Ralph Oertel, Melanie J Smith, Desiree du Sart, Damien Bruno, Tiffany L Wotton, David J Amor, David Francis, David E Godler

Journal article  |  2018  |  Genetics in Medicine

Fragile X population carrier screening

Sylvia A Metcalfe, Martin B Delatycki, Jonathan Cohen, Alison D Archibald, Jon D Emery

Journal article  |  2018  |  Genetics in Medicine

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

Sylvia A Metcalfe, Chriselle Hickerton, Jacqueline Savard, Bronwyn Terrill, Erin Turbitt, Clara Gaff, Kathleen Gray, Anna Middleton, Brenda Wilson, Ainsley J Newson

Journal article  |  2018  |  EUROPEAN JOURNAL OF HUMAN GENETICS

FMRI ALLELE SIZE DISTRIBUTION IN 35 000 MALES AND FEMALES: A COMPARISON OF DEVELOPMENTAL DELAY AND GENERAL POPULATION COHORTS

CM Kraan, QM Bui, M Field, AD Archibald, SM Metcalfe, BH Bennetts, TL Wotton, DJ Amor, D Francis, DE Godler

Conference Proceedings  |  2018  |  JOURNAL OF INTELLECTUAL DISABILITY RESEARCH

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

Sylvia A Metcalfe

Journal article  |  2018  |  Seminars in Fetal and Neonatal Medicine

Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening

Sylvia A Metcalfe, Melissa Martyn, Alice Ames, Vicki Anderson, Alison D Archibald, Rob Carter, Jonathan Cohen, Megan Cotter, William Dang, Martin B Delatycki, Susan Donath, Samantha Edwards, Robin Forbes, Mioara Gavrila, Jane Halliday, Chriselle Hickerton, Melissa Hill, Lorilli Jacobs, Vicki Petrou, Loren Plunkett, et al.

Journal article  |  2017  |  Genetics in Medicine

Consumer Health Informatics Aspects of Direct-to-Consumer Personal Genomic Testing

Kathleen Gray, Remya Stephen, Bronwyn Terrill, Brenda Wilson, Anna Middleton, Rigan Tytherleigh, Erin Turbitt, Clara Gaff, Jacqueline Savard, Chriselle Hickerton, Ainsley Newson, Sylvia Metcalfe

Journal article  |  2017  |  Studies in Health Technology and Informatics

Experiences of prenatal diagnosis and decision-making about termination of pregnancy: A qualitative study

Jan Hodgson, Penelope Pitt, Sylvia Metcalfe, Jane Halliday, Melody Menezes, Jane Fisher, Chriselle Hickerton, Kerry Petersen, Belinda McClaren

Journal article  |  2016  |  Australian and New Zealand Journal of Obstetrics and Gynaecology

Responsible implementation of expanded carrier screening

Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hulya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp, Borut Peterlin

Journal article  |  2016  |  European Journal of Human Genetics

Clinical Audit of Genetic Testing and Referral Patterns for Fragile X and Associated Conditions

Megan Cotter, Alison D Archibald, Belinda J McClaren, Trent Burgess, David Francis, Louise Hills, Melissa Martyn, Ralph Oertel, Howard Slater, Jonathan Cohen, Sylvia A Metcalfe

Journal article  |  2016  |  American Journal of Medical Genetics Part A

"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare

Alison D Archibald, Chriselle L Hickerton, Samantha A Wake, Alice M Jaques, Jonathan Cohen, Sylvia A Metcalfe

Journal article  |  2016  |  Journal of Community Genetics

Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication

Jan Hodgson, Sylvia Metcalfe, Clara Gaff, Susan Donath, Martin B Delatycki, Ingrid Winship, Loane Skene, MaryAnne Aitken, Jane Halliday

Journal article  |  2016  |  European Journal of Human Genetics

Carrier testing in children and adolescents

Danya F Vears, Sylvia A Metcalfe

Journal article  |  2015  |  European Journal of Medical Genetics

A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy

Siaw H Wong, Belinda J McClaren, Alison Dalton Archibald, Alice Weeks, Tess Langmaid, Monique M Ryan, Andrew Kornberg, Sylvia A Metcalfe

Journal article  |  2015  |  European Journal of Human Genetics

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

David E Godler, Yoshimi Inaba, Charles E Schwartz, Quang M Bui, Elva Z Shi, Xin Li, Amy S Herlihy, Cindy Skinner, Randi J Hagerman, David Francis, David J Amor, Sylvia A Metcalfe, John L Hopper, Howard R Slater

Journal article  |  2015  |  Expert Reviews in Molecular Medicine

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

Sally Lawton, Chriselle Hickerton, Alison D Archibald, Belinda J McClaren, Sylvia A Metcalfe

Journal article  |  2015  |  European Journal of Human Genetics

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

Kim M Cornish, Claudine M Kraan, Minh Bui Quang, Mark A Bellgrove, Sylvia A Metcalfe, Julian N Trollor, Darren R Hocking, Howard R Slater, Yoshimi Inaba, Xin Li, Alison D Archibald, Erin Turbitt, Jonathan Cohen, David E Godler

Journal article  |  2015  |  Neurology

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

Darren R Hocking, Claudine M Kraan, David E Godler, Quang M Bui, Xin Li, John L Bradshaw, Nellie Georgiou-Karistianis, Sylvia A Metcalfe, Alison D Archibald, Erin Turbitt, Joanne Fielding, Julian Trollor, Jonathan Cohen, Kim M Cornish

Journal article  |  2015  |  Neurobiology of aging

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

Alice G Ames, Alice Jaques, Obioha C Ukoumunne, Alison D Archibald, Rony E Duncan, Jon Emery, Sylvia A Metcalfe

Journal article  |  2015  |  Health Expectations

Analyzing communication in genetic consultations-A systematic review

Jean Paul, Sylvia Metcalfe, Lesley Stirling, Brenda Wilson, Jan Hodgson

Journal article  |  2015  |  Patient Education and Counseling

Measuring informed choice in population-based reproductive genetic screening: a systematic review

Alice Grace Ames, Sylvia Ann Metcalfe, Alison Dalton Archibald, Rony Emily Duncan, Jon Emery

Journal article  |  2015  |  European Journal of Human Genetics

Preferences for results from genomic microarrays: comparing parents and health care providers

E Turbitt, JL Halliday, DJ Amor, SA Metcalfe

Journal article  |  2015  |  Clinical genetics

Genetics in general practice Reply

Grant Blashki, Sylvia Metcalfe, Jon Emery

Journal article  |  2014  |  AUSTRALIAN FAMILY PHYSICIAN

Reply: To PMID 25006600.

Grant Blashki, Sylvia Metcalfe, Jon Emery

Journal article  |  2014  |  Australian family physician

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

Erin Turbitt, Michelle M Wiest, Jane L Halliday, David J Amor, Sylvia A Metcalfe

Journal article  |  2014  |  European Journal of Human Genetics

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

Claudine M Kraan, Darren R Hocking, Nellie Georgiou-Karistianis, Sylvia A Metcalfe, Alison D Archibald, Joanne Fielding, Julian Trollor, John L Bradshaw, Jonathan Cohen, Kim M Cornish

Journal article  |  2014  |  NEUROBIOLOGY OF AGING

Genetics in general practice

Grant Blashki, Sylvia Metcalfe, Jon Emery

Journal article  |  2014  |  Australian Family Physician

Symbolic sequence learning is associated with cognitive-affective profiles in female FMR1 premutation carriers

CM Kraan, DR Hocking, JL Bradshaw, N Georgiou-Karistianis, SA Metcalfe, AD Archibald, J Fielding, J Trollor, J Cohen, KM Cornish

Journal article  |  2014  |  Genes, Brain and Behavior

Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention

Jan M Hodgson, Sylvia A Metcalfe, MaryAnne Aitken, Susan M Donath, Clara L Gaff, Ingrid M Winship, Martin B Delatycki, Loane LC Skene, Belinda J McClaren, Jean L Paul, Jane L Halliday

Journal article  |  2014  |  BMC Medical Genetics

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

Liane Ioannou, Belinda J McClaren, John Massie, Sharon Lewis, Sylvia A Metcalfe, Laura Forrest, Martin B Delatycki

Journal article  |  2014  |  Genetics in Medicine

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

Annie L Shelton, Kim Cornish, Claudine Kraan, Nellie Georgiou-Karistianis, Sylvia A Metcalfe, John L Bradshaw, Darren R Hocking, Alison D Archibald, Jonathan Cohen, Julian N Trollor, Joanne Fielding

Journal article  |  2014  |  Brain and Cognition

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

Nicole E Cousens, Clara L Gaff, Martin B Delatycki, Sylvia A Metcalfe

Journal article  |  2014  |  Prenatal Diagnosis

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

Elyssia Bourke, Pamela Snow, Amy Herlihy, David Amor, Sylvia Metcalfe

Journal article  |  2014  |  European Journal of Human Genetics

Klinefelter syndrome: a general practice perspective

Elyssia Bourke, Amy Herlihy, Pamela Snow, Sylvia Metcalfe, David Amor

Journal article  |  2014  |  Australian Family Physician

Impaired Response Inhibition Is Associated With Self-Reported Symptoms of Depression, Anxiety, and ADHD in Female FMR1 Premutation Carriers

Claudine M Kraan, Darren R Hocking, Nellie Georgiou-Karistianis, Sylvia A Metcalfe, Alison D Archibald, Joanne Fielding, Julian Trollor, John L Bradshaw, Jonathan Cohen, Kim M Cornish

Journal article  |  2014  |  Am. J. Med. Genet. Part B Neuropsychiatr. Genet.

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

Claudine M Kraan, Darren R Hocking, Nellie Georgiou-Karistianis, Sylvia A Metcalfe, Alison D Archibald, Joanne Fielding, Julian Trollor, John L Bradshaw, Jonathan Cohen, Kim M Cornish

Journal article  |  2013  |  BEHAVIOURAL BRAIN RESEARCH

To tell or not to tell - what to do about p.C282Y heterozygotes identified by HFE screening

MB Delatycki, M Wolthuizen, MA Aitken, C Hickerton, SA Metcalfe, KJ Allen

Journal article  |  2013  |  Clinical Genetics

Key Informants' Perspectives of Implementing Chromosomal Microarrays Into Clinical Practice in Australia

Erin Turbitt, Jane L Halliday, Sylvia A Metcalfe

Journal article  |  2013  |  Twin Research and Human Genetics

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

Belinda J McClaren, MaryAnne Aitken, John Massie, David Amor, Obioha C Ukoumunne, Sylvia A Metcalfe

Journal article  |  2013  |  Genetics in Medicine

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

Nicole E Cousens, Clara L Gaff, Sylvia A Metcalfe, Martin B Delatycki

Journal article  |  2013  |  Journal of Community Genetics

Tests for haemoglobinopathy carrier status are the commonest genetic screening tests undertaken internationally. Carrier screening..

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

Yoshimi Inaba, Amy S Herlihy, Charles E Schwartz, Cindy Skinner, Quang M Bui, Joanna Cobb, Elva Z Shi, David Francis, Alison Arvaj, David J Amor, Kate Pope, Tiffany Wotton, Jonathan Cohen, Jacqueline K Hewitt, Randi J Hagerman, Sylvia A Metcalfe, John L Hopper, Danuta Z Loesch, Howard R Slater, David E Godler

Journal article  |  2013  |  Genetics in Medicine

Current Practice and Attitudes of Australian Obstetricians Toward Population-Based Carrier Screening for Inherited Conditions

Zornitza Stark, John Massie, Belinda McClaren, Liane Ioannou, Nicole Cousens, Sharon Lewis, Sylvia Metcalfe, Martin B Delatycki

Journal article  |  2013  |  Twin Research and Human Genetics

"Taking Its Toll": The Challenges of Working in Fetal Medicine

Melody A Menezes, Jan M Hodgson, Margaret Sahhar, Sylvia A Metcalfe

Journal article  |  2013  |  Birth - Issues in Perinatal Care

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

Alison D Archibald, Chriselle L Hickerton, Alice M Jaques, Samantha Wake, Jonathan Cohen, Sylvia A Metcalfe

Journal article  |  2013  |  American Journal of Medical Genetics. Part A

Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population

M Martyn, V Anderson, A Archibald, R Carter, J Cohen, M Delatycki, S Donath, J Emery, J Halliday, M Hill, L Sheffield, H Slater, F Tassone, S Younie, S Metcalfe

Journal article  |  2013  |  BMJ Open

Why Do People Choose Not to Have Screening for Hemochromatosis?

Michelle Wolthuizen, Amy Nisselle, Jane Halliday, Sylvia A Metcalfe, MaryAnne Aitken, Katie J Allen, Martin B Delatycki

Journal article  |  2013  |  Genetic Testing and Molecular Biomarkers

CONSIDERATIONS FOR REPORTING GENOME RESULTS TO PATIENTS

Erin Turbitt, David J Amor, Jane L Halliday, Sylvia A Metcalfe

Journal article  |  2013  |  Journal of Paediatrics and Child Health

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

Gemma R Brett, Sylvia A Metcalfe, David J Amor, Jane L Halliday

Journal article  |  2012  |  European Journal of Human Genetics

Carrier screening in preconception consultation in primary care.

Sylvia A Metcalfe

Journal article  |  2012  |  Journal of Community Genetics

Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting au..

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible

Martin B Delatycki, Michelle Wolthuizen, Veronica Collins, Elizabeth Varley, Joanna Craven, Katrina J Allen, Lyle C Gurrin, Maryanne Aitken, M Kaye Trembath, Lyndal Bond, Gabrielle R Wilson, Sarah EM Stephenson, Ivan Macciocca, Chriselle Hickerton, Paul J Lockhart, Sylvia A Metcalfe

Journal article  |  2012  |  European Journal of Human Genetics

Fragile X population carrier screening

Sylvia A Metcalfe, Alison D Archibald, Grad Dip Genet Couns

Journal article  |  2012  |  Genetics in Medicine

Genetics

JE Axilbund, AL Gross, K Visvanathan

Journal article  |  2011  |  CHECK (Continuous Home Evalutation of Clinical Knowledge)

A case for cystic fibrosis carrier testing in the general population

Belinda J McClaren, Sylvia A Metcalfe, David J Amor, MaryAnne Aitken, John Massie

Journal article  |  2011  |  Medical Journal of Australia

Genetic disorders

K Barlow-Stewart, S Metcalfe, J McFadyen, A Goodwin, A McLennan, J Massie

Journal article  |  2011  |  check (independent learning prograems for GPs)

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

Anna Flouris, Graeme Hawthorne, Maryanne Aitken, Clara Gaff, Sylvia A Metcalfe

Journal article  |  2010  |  Journal of Community Genetics

To support developments in genetics education, we constructed the GPGeneQ questionnaire to assess skills required for the practice..

"It's Challenging on a Personal Level"aEuro"Exploring the 'Lived Experience' of Australian and Canadian Prenatal Genetic Counselors

Melody A Menezes, Jan M Hodgson, Margaret A Sahhar, MaryAnne Aitken, Sylvia A Metcalfe

Journal article  |  2010  |  Journal of Genetic Counseling

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

Belinda J McClaren, Sylvia A Metcalfe, MaryAnne Aitken, R John Massie, Obioha C Ukoumunne, David J Amor

Journal article  |  2010  |  European Journal of Human Genetics

Carrier screening for Beta-thalassaemia: a review of international practice

Nicole E Cousens, Clara L Gaff, Sylvia A Metcalfe, Martin B Delatycki

Journal article  |  2010  |  European Journal of Human Genetics

A systematic review of population screening for fragile X syndrome

Melissa K Hill, Alison D Archibald, Grad Dip Genet Couns, Jonathan Cohen, Sylvia A Metcalfe

Journal article  |  2010  |  Genetics in Medicine

Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools

L Ioannou, J Massie, S Lewis, V Petrou, A Gason, S Metcalfe, MA Aitken, A Bankier, MB Delatycki

Journal article  |  2010  |  CLINICAL GENETICS

Implementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schools

MB Delatycki, M Wolthuizen, V Collins, E Varley, J Craven, KJ Allen, MA Aitken, L Bond, PJ Lockhart, GR Wilson, I Macciocca, SA Metcalfe

Journal article  |  2010  |  Clinical Genetics

"Testing Times, Challenging Choices": An Australian Study of Prenatal Genetic Counseling

Jan M Hodgson, Lynn H Gillam, Margaret A Sahhar, Sylvia A Metcalfe

Journal article  |  2010  |  Journal of Genetic Counseling

Concepts in genetic healthcare

CL Gaff, SA Metcalfe

Book Chapter  |  2010

Quality Issues in Clinical Genetic Services in Australia

Sylvia A Metcalfe, Agnes Bankier

Book Chapter  |  2010

"It's Something I Need to Consider": Decisions About Carrier Screening for Fragile X Syndrome in a Population of Non-Pregnant Women

Alison D Archibald, Alice M Jaques, Samantha Wake, Veronica R Collins, Jonathan Cohen, Sylvia A Metcalfe

Journal article  |  2009  |  American Journal of Medical Genetics. Part A

There's cancer in the family

Jon Emery, Kristine Barlow-Stewart, Sylvia A Metcalfe

Journal article  |  2009  |  Australian Family Physician

Australia: Public Health Genomics

SA Metcalfe, AH Bittles, P O'Leary, J Emery

Journal article  |  2009  |  Public Health Genomics

Erratum: A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study (Genetics in Medicine (2008) 10 (525-535))

S Metcalfe, A Jacques, A Archibald

Journal article  |  2009  |  Genetics in Medicine

Disclosing genetic research results after death of pediatric patients

Adrienne C Sexton, Sylvia A Metcalfe

Journal article  |  2008  |  JAMA: Journal of the American Medical Association

The missing element: consanguinity as a component of genetic risk assessment

Michelle Bishop, Grad Dip Gen Couns, Sylvia Metcalfe, Clara Gaff

Journal article  |  2008  |  Genetics in Medicine

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

Sylvia Metcalfe, Alice Jacques, Alison Archibald, Trent Burgess, Veronica Collins, Anna Henry, Kathleen McNamee, Leslie Sheffield, Howard Slater, Samantha Wake, Jonathan Cohen

Journal article  |  2008  |  Genetics in Medicine

Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.

AC Sexton, M Sahhar, DR Thorburn, SA Metcalfe

Journal article  |  2008  |  Journal of Genetic Counseling

This study used in-depth interviews to explore the experiences of parents who were re-contacted with new genetic results many year..

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

Sylvia A Metcalfe, MaryAnne Aitken, Clara L Gaff

Journal article  |  2008  |  Journal of Genetic Counseling

The role of a genetic counselor often entails providing education to patient, community and/or health professional groups. While c..

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

Belinda J McClaren, Martin B Delatycki, Veronica Collins, Sylvia A Metcalfe, MaryAnne Aitken

Journal article  |  2008  |  European Journal of Human Genetics

Use of a decision aid for prenatal testing of fetal abnormalities to improve women's informed decision making: a cluster randomised controlled trial [ISRCTN22532458]

C Nagle, J Gunn, R Bell, S Lewis, B Meiser, S Metcalfe, OC Ukoumunne, J Halliday

Journal article  |  2008  |  BJOG

Genetics and blood

Sylvia A Metcalfe, Kristine Barlow-Stewart, Janine Campbell, Jon Emery

Journal article  |  2007  |  Australian Family Physician

Population genetic screening

Sylvia A Metcalfe, Kristine Barlow-Stewart, Martin B Delatycki, Jon Emery

Journal article  |  2007  |  Australian Family Physician

Family genetics

Kristine Barlow-Stewart, Clara Gaff, Jon Emery, Sylvia A Metcalfe

Journal article  |  2007  |  Australian Family Physician

Genetics and preventive health care

Jon Emery, Kristine Barlow-Stewart, Sylvia A Metcalfe, David Sullivan

Journal article  |  2007  |  Australian Family Physician

Are Australian midwives empowered to support informed decision-making around genetic testing in pregnancy?

Michelle Bishop, Clara Gaff, Sylvia Metcalfe

Conference Proceedings  |  2007  |  Nursing & Health Sciences

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

Clara L Gaff, MaryAnne Aitken, Anna Flouris, Sylvia A Metcalfe

Journal article  |  2007  |  Genetics in Medicine

Genetics in Family Medicine:  The Australian Handbook for General Practitioners

undefined Barlow-Stewart, undefined Emery, S METCALFE

Book  |  2007

Auditing the use of genetics educational technologies in Australian secondary schools

AE NISSELLE, M AITKEN, G KENNEDY, S METCALFE

Journal article  |  2007  |  Teaching Science

Genetic health and families

undefined Barlow-Stewart, C GAFF, undefined Emery, S METCALFE

Journal article  |  2007  |  Australian Family Physician

Evaluation of a decision aid for prenatal testing of fetal abnormalities: a cluster randomised trial [ISRCTN22532458]

C Nagle, S Lewis, B Meiser, S Metcalfe, JB Carlin, R Bell, J Gunn, J Halliday

Journal article  |  2006  |  BMC Public Health

It's 'back to school' for genetic screening

AA Gason, MB Delatycki, SA Metcalfe, M Aitken

Journal article  |  2006  |  European Journal of Human Genetics

Educational outcomes of a workplace screening program for genetic susceptibility to hemochromatosis

AE Nisselle, VR Collins, AA Gason, A Flouris, MB Delatycki, KJ Allen, MA Aitken, SA Metcalfe

Journal article  |  2006  |  Clinical Genetics

Evaluation of genetics educational technologies used by science teachers

Amy Nisselle, Gregor Kennedy, Sylvia Metcalfe, MaryAnne Aitken

Conference Proceedings  |  2006  |  ASCILITE 2006 - The Australasian Society for Computers in Learning in Tertiary Education

The social imperative for community genetic screening: an Australian perspective

MA Aitken, S Metcalfe

Book Chapter  |  2006

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

AA Gason, SA Metcalfe, MB Delatycki, V Petrou, E Sheffield, A Bankier, MA Aitken

Journal article  |  2005  |  Genetics in Medicine

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis

MB Delatycki, KJ Allen, AE Nisselle, V Collins, S Metcalfe, D du Sart, J Halliday, MA Aitken, I Macciocca, V Hill, A Wakefield, A Ritchie, AA Gason, AJ Nicoll, LW Powell, R Williamson

Journal article  |  2005  |  The Lancet

Educating general practitioners about prenatal testing: Approaches and challenges

S Metcalfe, M Seipolt, M Aitken, A Flouris

Journal article  |  2005  |  Prenatal Diagnosis

A long-term outcome study of intersex conditions

G Warne, S Grover, J Hutson, A Sinclair, S Metcalfe, E Northam, J Freeman

Journal article  |  2005  |  Journal of Pediatric Endocrinology and Metabolism

Genetic susceptibility screening in schools: attitudes of the school community towards hereditary haemochromatosis

AA Gason, MA Aitken, SA Metcalfe, KJ Allen, MB Delatycki

Journal article  |  2005  |  Clinical Genetics

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

AA Gason, M Aitken, MB Delatycki, E Sheffield, SA Metcalfe

Journal article  |  2004  |  Genetics in Medicine

Integrating genetics as practices of primary care

R Robins, S Metcalfe

Journal article  |  2004  |  Social Science & Medicine

Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis

AE Nisselle, MB Delatycki, V Collins, S Metcalfe, MA Aitken, D du Sart, J Halliday, I Macciocca, A Wakefield, V Hill, A Gason, B Warner, V Calabro, R Williamson, KJ Allen

Journal article  |  2004  |  Clinical Genetics

Fragile X Syndrome: Clinical and Molecular Aspects

S METCALFE, undefined Cohen

Software / Code  |  2004

What's the story? Narrative styles of people living with intersex conditions.

S Metcalfe, E Hughes, M Sahhar

Conference Proceedings  |  2003  |  AMERICAN JOURNAL OF HUMAN GENETICS

Genetics and education in the public arena - an ethical perspective.

F Cunningham, M Aitken, S Metcalfe, R Dow, R Williamson

Conference Proceedings  |  2003  |  AMERICAN JOURNAL OF HUMAN GENETICS

Technology or talk? Equally effective: computer program and an oral presentation in a Tay Sachs disease carrier screening program for secondary school students.

MA Aitken, AA Gason, SA Metcalfe, E Sheffield, MB Delatycki

Conference Proceedings  |  2003  |  AMERICAN JOURNAL OF HUMAN GENETICS

Genetic screening hereditary haemochromatosis in secondary schools: attitudes of the school community in Victoria, Australia.

AA Gason, SA Metcalfe, MA Aitken, K Allen, MB Delatycki

Conference Proceedings  |  2003  |  AMERICAN JOURNAL OF HUMAN GENETICS

Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature

V Hill, A Sahhar, M Aitken, R Savarirayan, S Metcalfe

Journal article  |  2003  |  American Journal of Medical Genetics

Rules for clinical diagnosis in babies with ambiguous genitalia

Y Low, JM Hutson

Journal article  |  2003  |  Journal of Paediatrics and Child Health

Evaluation of a Tay-Sachs Disease screening program

AA Gason, E Sheffield, A Bankier, MA Aiken, S Metcalfe, KB Stewart, MB Delatycki

Journal article  |  2003  |  Clinical Genetics

The Genetics File – A Resource for GPs in Victoria

C Gaff, J Newstead, S Metcalfe

Book  |  2003

Longitudinal evaluation of an educational intervention - Prenatal diagnosis and general practitioners.

SA Metcalfe, A Flouris, M Seipolt, MA Aitken

Conference Proceedings  |  2002  |  AMERICAN JOURNAL OF HUMAN GENETICS

Experiences, at the time of diagnosis, of parents who have a child with a bone dysplasia resulting in short stature.

VL Hill, M Sahhar, M Aitken, R Savarirayan, S Metcalfe

Conference Proceedings  |  2002  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Needs assessment study of genetics education for general practitioners in Australia

S Metcalfe, R Hurworth, J Newstead, R Robins

Journal article  |  2002  |  Genetics in Medicine

Medical GenetiX. Clinical and Molecular Aspects of Human Genetic Disorders

SA METCALFE

Software / Code  |  2002

Evaluating a multimedia program 'Medical Genetix'.

SA Metcalfe

Conference Proceedings  |  2001  |  AMERICAN JOURNAL OF HUMAN GENETICS

Getting the gene into general practice

JL NEWSTEAD, SA METCALFE

Journal article  |  2001  |  Australian Family Physician

The need for a genetics education program for General Practitioners in Victoria, Australia.

S Metcalfe, R Hurworth, F Robins, J Newstead

Conference Proceedings  |  2000  |  AMERICAN JOURNAL OF HUMAN GENETICS

Autonomy and decision making in genetic counselling

J Hodgson, A Henry, S Metcalfe, M Sahhar, J Savulescu

Conference Proceedings  |  2000  |  JOURNAL OF MEDICAL GENETICS

Using multimedia to enhance teaching of contemporary medical genetics.

SA Metcalfe, R Williamson, A Bonollo

Conference Proceedings  |  1999  |  AMERICAN JOURNAL OF HUMAN GENETICS

Genethics: Involving non-scientists in the gene technology debate.

FJ Cunningham, S Metcalfe, M Aitken, I Maccioca, J Savulescu, L Gillam, R Williamson

Conference Proceedings  |  1999  |  AMERICAN JOURNAL OF HUMAN GENETICS

Sheep CD4( ) alpha beta T cells express novel members of the T19 multigene family

MA O'Keeffe, SA Metcalfe, CP Cunningham, ID Walker

Journal article  |  1999  |  Immunogenetics

A NOVEL MULTIGENE FAMILY OF SHEEP GAMMA-DELTA T-CELLS

ID WALKER, MD GLEW, MA OKEEFFE, SA METCALFE, HC CLEVERS, PLJ WIJNGAARD, TE ADAMS, WR HEIN

Journal article  |  1994  |  Immunology

LYMPH-NODE HOMING CELLS BIOLOGICALLY ENRICHED FOR GAMMA-DELTA T-CELLS EXPRESS MULTIPLE GENES FROM THE T19 REPERTOIRE

MA OKEEFFE, SA METCALFE, MD GLEW, T BOWDEN, S MCINNES, WG KIMPTON, RNP CAHILL, WR HEIN, ID WALKER

Journal article  |  1994  |  International Immunology

A novel multi-gene family of sheep γδ T cells

ID Walker, MD Glew, MA O'Keeffe, SA Metcalfe, HC Clevers, PLJ Wijngaard, TE Adams, WR Hein

Journal article  |  1994  |  Immunology

The antioxidant hemopexin has a type II interleukin-6 response element

S Immenschuh, H Satoh, Y Nagae, HH Liem, M Fraig, M De Falco, S Metcalfe

Book Chapter  |  1994

TESTICULAR DESCENT .2. ONTOGENY AND RESPONSE TO DENERVATION OF CALCITONIN GENE-RELATED PEPTIDE RECEPTORS IN NEONATAL RAT GUBERNACULUM

J YAMANAKA, SA METCALFE, JM HUTSON, FAO MENDELSOHN

Journal article  |  1993  |  Endocrinology

DEMONSTRATION OF CALCITONIN GENE-RELATED PEPTIDE RECEPTORS IN THE GUBERNACULUM BY COMPUTERIZED DENSITOMETRY

J YAMANAKA, SA METCALFE, JM HUTSON

Conference Proceedings  |  1992  |  Journal of Pediatric Surgery

SERUM LEVELS OF MULLERIAN INHIBITING SUBSTANCE IN BOYS WITH CRYPTORCHIDISM

J YAMANAKA, M BAKER, S METCALFE, JM HUTSON

Conference Proceedings  |  1991  |  Journal of Pediatric Surgery

SERUM LEVELS OF MULLERIAN INHIBITING SUBSTANCE IN BOYS FROM BIRTH TO 18 YEARS, AS DETERMINED BY ENZYME-IMMUNOASSAY

ML BAKER, SA METCALFE, JM HUTSON

Journal article  |  1990  |  The Journal of Clinical Endocrinology & Metabolism

Mullerian Inhibiting Substance

JM Hutson, SA Metcalfe, DT MacLaughlin, RL Cate, R Cigarroa, PK Donahoe

Book Chapter  |  1989

STUDIES ON SPECIES CROSS-REACTIVITY OF HEMOPEXIN BY USE OF MONOCLONAL AND POLYCLONAL ANTIBODIES

SA METCALFE, MG DEFALCO, KJ GRIFFIN, HH LIEM, U MULLEREBERHARD

Journal article  |  1987  |  Biochemical and Biophysical Research Communications

HEMOPEXIN IS A DEVELOPMENTALLY REGULATED, ACUTE-PHASE PLASMA-PROTEIN IN THE CHICKEN

G GRIENINGER, TJ LIANG, G BEUVING, V GOLDFARB, SA METCALFE, U MULLEREBERHARD

Journal article  |  1986  |  JOURNAL OF BIOLOGICAL CHEMISTRY

Hemopexin is a developmentally regulated, acute-phase plasma protein in the chicken.

G Grieninger, TJ Liang, G Beuving, V Goldfarb, SA Metcalfe, U Muller-Eberhard

Journal article  |  1986  |  Journal of Biological Chemistry

Identity has been established between chicken hemopexin and alpha 1-globulin "M," a plasma known for the hormone responsiveness of..

AN AVIAN SERUM ALPHA-1-GLYCOPROTEIN, HEMOPEXIN, DIFFERING SIGNIFICANTLY IN BOTH AMINO-ACID AND CARBOHYDRATE-COMPOSITION FROM MAMMALIAN (BETA-GLYCOPROTEIN) COUNTERPARTS

V GOLDFARB, RB TRIMBLE, M DEFALCO, HH LIEM, SA METCALFE, D WELLNER, U MULLEREBERHARD

Journal article  |  1986  |  Biochemistry

POSSIBLE MECHANISM FOR DIFFERENCES IN SENSITIVITY TO CISPLATINUM IN HUMAN-PROSTATE TUMOR-CELL LINES

SA METCALFE, K CAIN, BT HILL

Journal article  |  1986  |  Cancer Letters

IDENTIFICATION OF SYNERGISTIC COMBINATIONS OF SPIROGERMANIUM WITH 5-FLUOROURACIL OR CISPLATIN USING A RANGE OF HUMAN-TUMOR CELL-LINES INVITRO

BT HILL, AS BELLAMY, S METCALFE, PJ HEPBURN, JRW MASTERS, RDH WHELAN

Journal article  |  1984  |  Investigational New Drugs

In vitro evaluation of spirogermanium in murine and human tumour cell lines in vitro and demonstration of synergy with cis-platin or 5-fluorouracil.

BT Hill, S Metcalfe, PJ Hepburn, JRW Masters, RDH Whelan

Conference Proceedings  |  1984

A review of methods for estimating clinically achievable antitumour drug levels and their association with studies in vitro

SA Metcalfe

Book Chapter  |  1983

THE METABOLISM OF AFLATOXIN-B1 BY HEPATOCYTES ISOLATED FROM RATS FOLLOWING THE INVIVO ADMINISTRATION OF SOME XENOBIOTICS

SA METCALFE, GE NEAL

Journal article  |  1983  |  Carcinogenesis

INVITRO RESPONSES OF HUMAN-PROSTATE TUMOR-CELL LINES TO A RANGE OF ANTI-TUMOR AGENTS

SA METCALFE, RDH WHELAN, JRW MASTERS, BT HILL

Journal article  |  1983  |  International Journal of Cancer

ANDROGEN METABOLISM BY HUMAN PROSTATIC TUMORS IN ORGAN-CULTURE

CB SMITH, JRW MASTERS, SA METCALFE, R GHANADIAN

Journal article  |  1983  |  European Journal of Cancer

SOME STUDIES ON THE RELATIONSHIP BETWEEN THE CYTO-TOXICITY OF AFLATOXIN-B1 TO RAT HEPATOCYTES AND METABOLISM OF THE TOXIN

SA METCALFE, GE NEAL

Journal article  |  1983  |  Carcinogenesis

The British Association for Cancer Research, 23rd annual general meeting. Held at Edinburgh 29--31 March 1982

Conference Proceedings  |  1982  |  British Journal of Cancer

THE USEFULNESS OF HUMAN-PROSTATE TUMOR-CELL LINES IN THE STUDY OF CHEMOSENSITIVITIES

SA METCALFE, JRW MASTERS, BT HILL

Journal article  |  1982  |  British Journal of Cancer

Improved colony formation with human tumors using the Courtenay clonogenic assay

BT Hill, HT Rupniak, RDH Whelan, SA Metcalfe

Journal article  |  1981  |  Stem Cells

MECHANISM OF THE RESISTANCE TO CYTO-TOXICITY WHICH PRECEDES AFLATOXIN-B1 HEPATOCARCINOGENESIS

GE NEAL, SA METCALFE, RF LEGG, DJ JUDAH, JA GREEN

Journal article  |  1981  |  Carcinogenesis

A COMPARISON OF THE EFFECTS OF PRETREATMENT WITH PHENOBARBITONE AND 3-METHYLCHOLANTHRENE ON THE METABOLISM OF AFLATOXIN-B1 BY RAT-LIVER MICROSOMES AND ISOLATED HEPATOCYTES INVITRO

SA METCALFE, PJ COLLEY, GE NEAL

Journal article  |  1981  |  Chemico-Biological Interactions

EFFECT OF ASCORBIC-ACID ON RNA AND PROTEIN-SYNTHESIS ON 2 CULTURED-CELL LINES INVITRO

NP BISHUN, DC WILLIAMS, TK BASU, S METCALFE

Journal article  |  1979  |  Cytobios

EFFECT OF ASCORBIC-ACID (VITAMIN-C) ON 2 TUMOR-CELL LINES IN CULTURE

N BISHUN, TK BASU, S METCALFE, DC WILLIAMS

Journal article  |  1978  |  Oncology