Publications by authors named "Alison D Archibald"

26Publications

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

Aust N Z J Obstet Gynaecol 2020 Nov 2. Epub 2020 Nov 2.

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/ajo.13264DOI Listing
November 2020

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

Eur J Med Genet 2020 Sep 30;63(12):104075. Epub 2020 Sep 30.

Department of Paediatrics, University of Melbourne, Australia; Victorian Clinical Genetics Services, Australia; Murdoch Children's Research Institute, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104075DOI Listing
September 2020

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

Aust J Gen Pract 2019 03;48(3):106-110

PhD, FRACP, FRCPA, Clinical Geneticist, Centre for Clinical Genetics, Sydney Children@s Hospital, Randwick, NSW; Genetic Pathologist, NSW Health Pathology Randwick Genomics Laboratory, Randwick, NSW; Conjoint Professor, School of Women@s and Children@s Health, University of New South Wales, Randwick, NSW.

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http://dx.doi.org/10.31128/AJGP-10-18-4725DOI Listing
March 2019

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.

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

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

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

J Community Genet 2018 Jan 2;9(1):71-80. Epub 2017 Oct 2.

Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s12687-017-0337-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752656PMC
January 2018

"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result.

Am J Med Genet A 2016 11 13;170(11):2895-2904. Epub 2016 Jul 13.

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37838DOI Listing
November 2016

"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.

Am J Med Genet A 2016 08 6;170(8):2052-9. Epub 2016 May 6.

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37697DOI Listing
August 2016

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.

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

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.

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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:

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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.

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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:

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

Population-based genetic carrier screening for cystic fibrosis in Victoria.

Med J Aust 2014 Mar;200(4):205-6

Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.5694/mja13.10864DOI Listing
March 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:

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http://dx.doi.org/10.1016/j.bandc.2013.12.006DOI 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.

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

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

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http://dx.doi.org/10.1002/ajmg.a.35674DOI 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.

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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

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

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

J Community Genet 2012 Jan 17;3(1):47-54. Epub 2011 Nov 17.

Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia,

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http://dx.doi.org/10.1007/s12687-011-0067-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266967PMC
January 2012

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.

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