A. Archibald

发表

Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening

Anita Gorrie, A. Archibald, L. Ioannou, 2017, Journal of Community Genetics.

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

Jonathan Cohen, John L. Bradshaw, Nellie Georgiou-Karistianis, 2013, Behavioural Brain Research.

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

J. Emery, S. Metcalfe, R. Duncan, 2014, European Journal of Human Genetics.

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

A. Kornberg, S. Metcalfe, M. Ryan, 2015, European Journal of Human Genetics.

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

S. Metcalfe, A. Archibald, V. Collins, 2008, Genetics in Medicine.

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

J. Bradshaw, J. Trollor, N. Georgiou-Karistianis, 2014, Genes, brain, and behavior.

Development and use of the Australian reproductive genetic carrier screening decision aid

M. Delatycki, K. Barlow-Stewart, A. Archibald, 2021, European journal of human genetics : EJHG.

“I'm Healthy, It's Not Going To Be Me”: Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia

D. Amor, A. Archibald, Louisa Di Pietro, 2016, American journal of medical genetics. Part A.

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

S. Metcalfe, A. Archibald, B. McClaren, 2014, European Journal of Human Genetics.

A systematic review of population screening for fragile X syndrome

S. Metcalfe, A. Archibald, J. Cohen, 2010, Genetics in Medicine.

Erratum to: Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

R. Bennett, B. Finucane, A. Archibald, 2012, Journal of Genetic Counseling.

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

M. Bellgrove, J. Trollor, Q. Bui, 2015, Neurology.

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

S. Metcalfe, D. Francis, A. Archibald, 2016, American journal of medical genetics. Part A.

International perspectives on the implementation of reproductive carrier screening

W. Grody, F. Alkuraya, N. Laing, 2019, Prenatal diagnosis.

Ethical considerations in gene selection for reproductive carrier screening

A. Archibald, A. Newson, Lisa Dive, 2021, Human Genetics.

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations

M. Delatycki, D. Francis, D. Amor, 2021, American journal of medical genetics. Part A.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

P. Scuffham, J. Braithwaite, N. Laing, 2022, Journal of personalized medicine.

Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis

D. Amor, A. Archibald, L. Ioannou, 2020, The Australian & New Zealand journal of obstetrics & gynaecology.

Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners.

J. Emery, N. Laing, M. Delatycki, 2019, Australian journal of general practice.

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

M. Pertile, M. Delatycki, D. Francis, 2017, Genetics in Medicine.

Population Carrier Screening: Psychological Impact

B. Wilfond, A. Archibald, 2011 .

The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening

J. Braithwaite, J. Long, A. Archibald, 2022, European Journal of Human Genetics.

Which types of conditions should be included in reproductive genetic carrier screening?: Views of parents of children with a genetic condition.

M. Delatycki, K. Barlow-Stewart, A. Archibald, 2020, European journal of medical genetics.

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

S. Metcalfe, A. Archibald, J. Cohen, 2016, Journal of Community Genetics.

Is self-reported improvement in osteoarthritis pain and disability reflected in objective measures?

James G Wright, A. Davis, G. Hawker, 2007, The Journal of rheumatology.

Performance of a cell‐free DNA prenatal screening test, choice of prenatal procedure, and chromosome conditions identified during pregnancy after low‐risk cell‐free DNA screening

M. Pertile, M. Delatycki, A. Archibald, 2023, Prenatal diagnosis.

“It wasn't a disaster or anything”: Parents’ experiences of their child's uncertain chromosomal microarray result

S. White, A. Archibald, E. Wilkins, 2016, American journal of medical genetics. Part A.

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

J. Emery, M. Delatycki, S. Metcalfe, 2017, Genetics in Medicine.

Development and use of the Australian reproductive genetic carrier screening decision aid

K. Barlow-Stewart, A. Archibald, B. McClaren, 2021, European Journal of Human Genetics.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making

A. Archibald, B. McClaren, 2011, Journal of Community Genetics.

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

J. Emery, S. Metcalfe, O. Ukoumunne, 2015, Health expectations : an international journal of public participation in health care and health policy.

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

S. Metcalfe, A. Archibald, J. Cohen, 2013, American journal of medical genetics. Part A.

“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women

S. Metcalfe, A. Archibald, V. Collins, 2009, American journal of medical genetics. Part A.

Correspondence on "Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)" by Gregg et al.

N. Laing, M. Delatycki, A. Archibald, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Population‐based genetic carrier screening for cystic fibrosis in Victoria

D. Amor, A. Archibald, J. Massie, 2014, The Medical journal of Australia.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review

J. Braithwaite, J. Long, A. Archibald, 2021, Prenatal diagnosis.

Genome-wide noninvasive prenatal screening for carriers of balanced reciprocal translocations

M. Pertile, A. Archibald, K. L. Scarff, 2020, Genetics in Medicine.

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

N. Laing, T. Roscioli, Meredith Wilson, 2020, European Journal of Human Genetics.

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

Q. Bui, S. Metcalfe, D. Francis, 2018, Genetics in Medicine.

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

Q. Bui, S. Metcalfe, D. Francis, 2018, Genetics in Medicine.

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

J. Emery, M. Delatycki, S. Metcalfe, 2013, BMJ Open.

Experiences of receiving an increased chance of sex chromosome aneuploidy result from non‐invasive prenatal testing in Australia: “A more complicated scenario than what I had ever realized”

A. Archibald, Melody Menezes, J. Elliott, 2022, Journal of genetic counseling.

Impaired response inhibition is associated with self‐reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers

J. Bradshaw, J. Trollor, N. Georgiou-Karistianis, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Who Are We Now ? M & As and Corporate Visual Identity

A. Archibald, Kate Gollogy, Stephanie Weissglass, 2002 .

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

J. Bradshaw, J. Trollor, N. Georgiou-Karistianis, 2014, Brain and Cognition.

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

J. Bradshaw, J. Trollor, N. Georgiou-Karistianis, 2014, Neurobiology of Aging.

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

S. Metcalfe, A. Archibald, J. Cohen, 2016, Journal of Community Genetics.

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

J. Bradshaw, J. Trollor, Q. Bui, 2015, Neurobiology of Aging.

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests

M. Pertile, M. Delatycki, D. Francis, 2017, Genetics in Medicine.

How should severity be understood in the context of reproductive genetic carrier screening?

A. Archibald, A. Newson, Lisa Dive, 2023, Bioethics.

“It becomes your whole life”—Exploring experiences of reciprocal translocation carriers and their partners

M. Pertile, A. Archibald, N. Flowers, 2023, Journal of genetic counseling.

Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors

R. Bennett, B. Finucane, A. Archibald, 2012, Journal of Genetic Counseling.

“It's something I need to consider”: Decisions about carrier screening for fragile X syndrome in a population of non‐pregnant women

S. Metcalfe, A. Archibald, V. Collins, 2009, American journal of medical genetics. Part A.

Perceived relevance of genetic carrier screening: observations of the role of health-related life experiences and stage of life in decision making

A. Archibald, B. McClaren, 2011, Journal of Community Genetics.