Publications by authors named "Jackie Boyle"

18Publications

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.

Twin Res Hum Genet 2020 Jun;23(3):184-189

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

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http://dx.doi.org/10.1017/thg.2020.51DOI Listing
June 2020

Pre-genetics clinic resource evaluation for adults with intellectual disability: The pre-genetics clinic aid.

J Genet Couns 2020 Aug 4;29(4):668-677. Epub 2020 Apr 4.

Genetics of Learning Disability, Waratah, Hunter New England, Sydney, NSW, Australia.

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http://dx.doi.org/10.1002/jgc4.1259DOI Listing
August 2020

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia.

Twin Res Hum Genet 2018 12 21;21(6):533-537. Epub 2018 Nov 21.

Australian Genomics Health Alliance,Melbourne,Victoria,Australia.

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http://dx.doi.org/10.1017/thg.2018.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390382PMC
December 2018

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.

Eur J Hum Genet 2016 11 25;24(11):1612-1616. Epub 2016 May 25.

School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2016.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110046PMC
November 2016

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Maternal attitudes to newborn screening for fragile X syndrome.

Am J Med Genet A 2013 Feb 9;161A(2):301-11. Epub 2013 Jan 9.

Genetics of Learning Disability, Hunter Genetics, Waratah, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35752DOI Listing
February 2013

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009