Dylan Mordaunt

Dylan Mordaunt

Adelaide Medical School

Faculty of Health and Medical Sciences

  • Journals
    Year Citation
    2024 Mordaunt, D. A., Gonzalez, F. S., Lunke, S., Eggers, S., Sadedin, S., Chong, B., . . . Goranitis, I. (2024). The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study. Genetics in Medicine, 26(4), 8 pages.
    DOI
    2024 Wang, B., Andraweera, P., Danchin, M., Blyth, C. C., Vlaev, I., Ong, J., . . . Marshall, H. (2024). Nudging towards COVID-19 and influenza vaccination uptake in medically at-risk children: EPIC study protocol of randomised controlled trials in Australian paediatric outpatient clinics. BMJ Open, 14(2), 9 pages.
    DOI
    2023 Santos Gonzalez, F., Mordaunt, D., Stark, Z., Dalziel, K., Christodoulou, J., & Goranitis, I. (2023). Microcosting diagnostic genomic sequencing: A systematic review. Genetics in Medicine, 25(6), 100829.
    DOI Scopus4 Europe PMC2
    2023 Andraweera, P. H., Wang, B., Danchin, M., Blyth, C., Vlaev, I., Ong, J., . . . Marshall, H. S. (2023). Randomised controlled trials of behavioural nudges delivered through text messages to increase influenza and COVID-19 vaccines among pregnant women (the EPIC study): study protocol. Trials, 24(1), 454-1-454-8.
    DOI Scopus1 Europe PMC1
    2023 Mordaunt, D. A., Dalziel, K., Goranitis, I., & Stark, Z. (2023). Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia. European Journal of Human Genetics, 31(9), 977-979.
    DOI Scopus3 WoS2 Europe PMC2
    2023 Rahja, M., Laver, K., Mordaunt, D. A., Adnan, N., Vakulin, A., Lovato, N., & Crotty, M. (2023). “The Days Are Long But the Nights Are Even Longer”: A Mixed-Method Study of Sleep Disturbances Among Patients in an Inpatient Rehabilitation Program. Archives of Rehabilitation Research and Clinical Translation, 5(3), 100275.
    DOI
    2023 Mordaunt, D. A., Stark, Z., Gonzalez, F. S., Dalziel, K., & Goranitis, I. (2023). Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia. BMJ Open, 13(11), 6 pages.
    DOI Scopus1
    2021 Jensen, M. D., Hansen, K. M., Siersma, V., Brodersen, J., Mordaunt, D. A., Mordaunt, D. A., & Mordaunt, D. A. (2021). Using a Deliberative Poll on breast cancer screening to assess and improve the decision quality of laypeople. PLOS ONE, 16(10), 21 pages.
    DOI Europe PMC2
    2021 Mordaunt, D. A. (2021). Re: "remote Patient Monitoring: A Systematic Review" by Farias et al.. Telemedicine and e-Health, 27(4), 374-377.
    DOI Scopus1 WoS1
    2021 Humphrey, G., Dobson, R., Parag, V., Hiemstra, M., Howie, S., Marsh, S., . . . Bullen, C. (2021). See how they grow: Testing the feasibility of a mobile app to support parents' understanding of child growth charts. PLoS ONE, 16(2 February 2021), 19 pages.
    DOI Scopus7 WoS7 Europe PMC6
    2020 Mordaunt, D. (2020). On the epistemology of case studies of social phenomena in healthcare. New Zealand Medical Journal, 133(1520), 140-143.
    2020 Kempa-Liehr, A. W., Lin, C. Y. C., Britten, R., Armstrong, D., Wallace, J., Mordaunt, D., & O'Sullivan, M. (2020). Healthcare pathway discovery and probabilistic machine learning. International Journal of Medical Informatics, 137, 104087.
    DOI Scopus26 WoS15 Europe PMC5
    2020 Mordaunt, D. A. (2020). On clinical utility and systematic reporting in case studies of healthcare process mining. International Journal of Environmental Research and Public Health, 17(22), 1-4.
    DOI
    2020 Dyer, S., Mordaunt, D. A., & Adey-Wakeling, Z. (2020). Interventions for post-stroke shoulder pain: An overview of systematic reviews. International Journal of General Medicine, 13, 1411-1426.
    DOI Scopus20 WoS16 Europe PMC11
    2020 Mordaunt, D. (2020). What databases should we include in a comprehensive search strategy protocol for systematic reviews of artificial intelligence? (Preprint).
    DOI
    2020 Mordaunt, D. A. (2020). Sharing (data) is caring for patients with pachyonychia congenita. British Journal of Dermatology, 182(3), 537.
    DOI Scopus1 WoS1
    2020 Mordaunt, D., Cox, D., & Fuller, M. (2020). Metabolomics to improve the diagnostic efficiency of inborn errors of metabolism. International Journal of Molecular Sciences, 21(4), 17 pages.
    DOI Scopus32 WoS25 Europe PMC15
    2020 Mordaunt, D. A., Button, E., Hardy, T., Dubowsky, A., Holloway, M., Schenscher, S., . . . Fletcher, J. (2020). Clinical implications of discordant massarray and sanger sequencing results in cystic fibrosis newborn screening. Pathology, 52, S60.
    DOI
    2020 Mordaunt, D. A., Soubrier, J., Gao, S., Rawlings, L., Nicholl, J., Yu, S., . . . Kassahn, K. (2020). Review of 12 months of copy number variant calling on a clinical next generation sequencing pipeline. Pathology, 52, S108.
    DOI
    2019 Byrne, A. B., Arts, P., Polyak, S. W., Feng, J., Schreiber, A. W., Kassahn, K. S., . . . Scott, H. S. (2019). Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. npj Genomic Medicine, 4(1), 1-8.
    DOI Scopus17 WoS11 Europe PMC10
    2018 Mordaunt, D. A. (2018). Acupuncture and acc: Therapeutic regulation and funding in New Zealand. New Zealand Medical Journal, 131(1476), 96-97.
    2018 Diets, I. J., Waanders, E., Ligtenberg, M. J., van Bladel, D. A. G., Kamping, E. J., Hoogerbrugge, P. M., . . . Jongmans, M. C. (2018). High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer. Clinical Cancer Research, 24(7), 1594-1603.
    DOI Scopus51 WoS45 Europe PMC30
    2016 Stark, Z., Tan, T. Y., Chong, B., Brett, G. R., Yap, P., Walsh, M., . . . White, S. M. (2016). A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in Medicine, 18(11), 1090-1096.
    DOI Scopus295 WoS251 Europe PMC198
    2016 Mordaunt, D. A., & Savarirayan, R. (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?. Human Mutation, 37(3), 324.
    DOI
    2016 Brecht, M., Goddard, T., Mordaunt, D., Kelly, A., & Barnett, C. (2016). A late preterm newborn with cyanosis. NeoReviews, 17(3), e166-e169.
    DOI
    2016 Forrest, C., Casey, G., Mordaunt, D., Thompson, E., & Gordon, L. (2016). Pachyonychia Congenita: a spectrum of KRT6a mutations in Australian patients. Pediatric Dermatology, 33(3), 337-342.
    DOI Scopus15 WoS11 Europe PMC7
    2016 Mordaunt, D., Windsor, J., & Loveday, B. (2016). Evaluating the assessment metrics of the Integrated Cognitive Simulator’s laparoscopic appendicectomy module.
    DOI
    2016 Abstracts From the 48<sup>th</sup> Congress of the International Society of Paediatric Oncology (SIOP) Dublin, Ireland October 19-22, 2016. (2016). Pediatric blood & cancer, 63 Suppl 3(S3), S5-S321.
    DOI Europe PMC3
    2015 Mini Oral Abstracts (2015). Nephrology, 20(S3), 23-59.
    DOI
    2015 Huff, L. L., Kiger, J. R., & Caplan, M. J. (2015). Index of suspicion in the nursery: Asymmetrical abdominal distension in a female neonate. NeoReviews, 16(6), e378-e379.
    DOI
    2015 Mordaunt, D., Oftedal, B. E., McLauchlan, A., Coates, D., Waters, W., Scott, H., & Barnett, C. (2015). 8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: A new syndrome?. Pediatric Neurology, 52(2), 230-234.e1.
    DOI Scopus1 WoS2 Europe PMC2
    2015 Mordaunt, D. A., & Savaririyan, R. (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?. Human Mutation, 36(3), 388.
    DOI Scopus4 WoS5 Europe PMC4
    2015 Mordaunt, D., Jolley, A., Balasubramaniam, S., Thorburn, D., Mountford, H., Compton, A., . . . Yu, S. (2015). Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. American Journal of Medical Genetics Part A, 167(6), 1330-1336.
    DOI Scopus30 WoS26 Europe PMC16
    2015 Mordaunt, D. A., & Mclauchlan, A. (2015). HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity. Clinical Genetics, 88(1), 98.
    DOI Scopus5 WoS5 Europe PMC2
    2015 Mordaunt, D., McIntyre, L., Salvemini, H., Ibrahim, A., Bratkovic, D., Ketteridge, D., . . . Smith, N. (2015). Presentation of m.3243A&gt;G (MT-TL1; tRNALeu) variant with focal neurology in infancy. American Journal of Medical Genetics, Part A, 167(11), 2697-2701.
    DOI Scopus2 WoS3 Europe PMC2
    2015 Mordaunt, D. A. (2015). Protein-losing enteropathy in a patient on ketogenic diet for limbic encephalitis - Treatment effect or underlying pathology?. Pediatric Neurology, 52(6), e11.
    DOI Scopus1
    2014 Mordaunt, D. (2014). Congenital coronary anomalies are not uncommon and consideration should be given to screening first degree relatives. Pathology, 46(7), 669-670.
    DOI Scopus1
    2014 Mordaunt, D., Gabbett, M., Waugh, M., O’Brien, K., & Heussler, H. (2014). Uptake and diagnostic yield of chromosomal microarray in an Australian child development clinic. Children, 1(1), 21-30.
    DOI Scopus5 WoS5 Europe PMC4
    2014 Mordaunt, D. (2014). Diagnostic yield and cost-utility analysis of genetic investigations for assessing children with autism in an australian metropolitan child development service. Pathology, 46, S91.
    DOI
    2014 Mordaunt, D., Correnti, G., & Haan, E. (2014). Cardiac genetic testing in South Australia 2008-2013. Heart, Lung and Circulation, 23, e4.
    DOI
    2013 ICIEM Abstracts (2013). Journal of Inherited Metabolic Disease, 36(S2), 91-342.
    DOI
    - Mordaunt, D. A. (n.d.). Translating the Digital Health Conceptual Framework into population health practice. Journal of the International Society for Telemedicine and eHealth, 8.
    DOI

  • Conference Papers
    Year Citation
    2016 Diets, I., Waanders, E., Mensenkamp, A., Ligtenberg, M., Kamping, E., Hoogerbrugge, P., . . . Jongmans, M. (2016). High Yield of Causative Mutations by Whole Exome Sequencing in Selected Individuals with Childhood Cancer. In PEDIATRIC BLOOD & CANCER Vol. 63 (pp. S13-S14). WILEY-BLACKWELL.
    2015 Mallett, A., Mordaunt, D., Sonawane, R., Walker, A., Kausman, J., Peters, H., . . . Yaplito-Lee, J. (2015). RMND1 MUTATIONS ARE ASSOCIATED WITH AUTOSOMAL RECESSIVE SYNDROMIC NEPHROPATHY. In NEPHROLOGY Vol. 20 (pp. 42). WILEY-BLACKWELL.
    2015 Mallett, A., Mordaunt, D., Crafter, S., Mctaggart, S., Kark, A., Patel, C., . . . Simons, C. (2015). THE HETEROZYGOUS P.R76W HNF4A VARIANT IS ASSOCIATED WITH ATYPICAL AUTOSOMAL DOMINANT DE TONI-FANCONI-DEBRE SYNDROME AND CAN BE DIAGNOSED UTILISING DIAGNOSTIC CLINICAL EXOMIC ANALYSIS. In NEPHROLOGY Vol. 20 (pp. 41). WILEY-BLACKWELL.
    1991 BARWICK, J., CROFT, P., & MORDAUNT, D. (1991). TAX ACCOUNTING METHODS - NEW-ZEALAND. In TAXATION AND INBOUND INVESTMENT IN PACIFIC RIM COUNTRIES (pp. 445-451). MAUI, HI: INT BUREAU FISCAL DOCUMENTATION.

  • Preprint
    Year Citation
    2023 Mordaunt, D., Stark, Z., Gonzalez, F. S., Dalziel, K., & Goranitis, I. (2023). Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia.
    DOI
    2016 Mordaunt, D. A., Windsor, J. A., & Loveday, B. (2016). Evaluating the assessment metrics of the Integrated Cognitive Simulator’s laparoscopic appendicectomy module.
    DOI
Connect With Me
External Profiles