Publications by authors named "Dylan Mordaunt"

18Publications

On Clinical Utility and Systematic Reporting in Case Studies of Healthcare Process Mining.

Authors:
Dylan A Mordaunt

Int J Environ Res Public Health 2020 Nov 10;17(22). Epub 2020 Nov 10.

Shoalhaven Hospital Group, Illawarra-Shoalhaven Local Health District, Nowra 2541, Australia.

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http://dx.doi.org/10.3390/ijerph17228298DOI Listing
November 2020

On the epistemology of case studies of social phenomena in healthcare.

Authors:
Dylan Mordaunt

N Z Med J 2020 08 21;133(1520):140-143. Epub 2020 Aug 21.

University of Adelaide, Adelaide, SA, Australia; Flinders University, Bedford Park, SA, Australia.

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August 2020

Re: "Remote patient monitoring: A systematic review" by Farias

Authors:
Dylan A Mordaunt

Telemed J E Health 2020 Jul 1. Epub 2020 Jul 1.

Office for the Chief Medical Information Officer, Digital Health, SA Health, Adelaide, Australia.

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http://dx.doi.org/10.1089/tmj.2020.0191DOI Listing
July 2020

Healthcare pathway discovery and probabilistic machine learning.

Int J Med Inform 2020 05 24;137:104087. Epub 2020 Feb 24.

Department of Engineering Science, The University of Auckland, 70 Symonds St, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.ijmedinf.2020.104087DOI Listing
May 2020

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism.

Int J Mol Sci 2020 Feb 11;21(4). Epub 2020 Feb 11.

Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.3390/ijms21041195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072749PMC
February 2020

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

NPJ Genom Med 2019 14;4:28. Epub 2019 Nov 14.

1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.

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http://dx.doi.org/10.1038/s41525-019-0103-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856110PMC
November 2019

Acupuncture and ACC: therapeutic regulation and funding in New Zealand.

Authors:
Dylan A Mordaunt

N Z Med J 2018 06 8;131(1476):96-97. Epub 2018 Jun 8.

Cancer Services (Health Administration) Fellow, Institute for Improvement and Innovation (i3), Waitemata District Health Board (WDHB), Auckland.

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June 2018

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Pediatr Dermatol 2016 May 4;33(3):337-42. Epub 2016 Apr 4.

Flinders Medical Centre, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/pde.12841DOI Listing
May 2016

Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Hum Mutat 2016 Mar 11;37(3):324. Epub 2016 Jan 11.

Victorian Clinical Genetics Service, Murdoch Children's Research Institute, and University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.22937DOI Listing
March 2016

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.

Am J Med Genet A 2015 Nov 20;167A(11):2697-701. Epub 2015 Aug 20.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37161DOI Listing
November 2015

Protein-losing enteropathy in a patient on ketogenic diet for limbic encephalitis--treatment effect or underlying pathology?

Authors:
Dylan A Mordaunt

Pediatr Neurol 2015 Jun 23;52(6):e11. Epub 2015 Feb 23.

Department of Metabolic Medicine, The Royal Children's Hospital and Metabolic Research Group, Murdoch Children's Research Institute, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.02.013DOI Listing
June 2015

Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and neuromuscular involvement?

Hum Mutat 2015 Mar;36(3):388

South Australian Clinical Genetics Service, SA Pathology and School of Paediatric and Reproductive, Medicine, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1002/humu.22753DOI Listing
March 2015

8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?

Pediatr Neurol 2015 Feb 13;52(2):230-4.e1. Epub 2014 Oct 13.

South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, North Adelaide, South Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.002DOI Listing
February 2015

Congenital coronary anomalies are not uncommon and consideration should be given to screening first degree relatives.

Authors:
Dylan A Mordaunt

Pathology 2014 Dec;46(7):669-70

1South Australian Clinical Genetics Unit, SA Pathology, North Adelaide 2School of Paediatrics and Reproductive Health, University of Adelaide, North Adelaide, SA, Australia.

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http://dx.doi.org/10.1097/PAT.0000000000000178DOI Listing
December 2014

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic.

Children (Basel) 2014 May 9;1(1):21-30. Epub 2014 May 9.

Mater Children's Hospital, Raymond Terrace, South Brisbane, QLD 4101, Australia.

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http://dx.doi.org/10.3390/children1010021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939515PMC
May 2014