| A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ... Genet Med 18, 1090-6, 2016 | 404 | 2016 |
| High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer IJ Diets, E Waanders, MJ Ligtenberg, DAG van Bladel, EJ Kamping, ... Clinical Cancer Research 24 (7), 1594-1603, 2018 | 64 | 2018 |
| Healthcare pathway discovery and probabilistic machine learning AW Kempa-Liehr, CYC Lin, R Britten, D Armstrong, J Wallace, ... International journal of medical informatics 137, 104087, 2020 | 47 | 2020 |
| Metabolomics to improve the diagnostic efficiency of inborn errors of metabolism D Mordaunt, D Cox, M Fuller International journal of molecular sciences 21 (4), 1195, 2020 | 43 | 2020 |
| Phenotypic variation of TTC19‐deficient mitochondrial complex III deficiency: A case report and literature review DA Mordaunt, A Jolley, S Balasubramaniam, DR Thorburn, HS Mountford, ... American Journal of Medical Genetics Part A 167 (6), 1330-1336, 2015 | 43 | 2015 |
| Interventions for post-stroke shoulder pain: an overview of systematic reviews S Dyer, DA Mordaunt, Z Adey-Wakeling International Journal of General Medicine, 1411-1426, 2020 | 31 | 2020 |
| Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 AB Byrne, P Arts, SW Polyak, J Feng, AW Schreiber, KS Kassahn, ... NPJ Genomic Medicine 4 (1), 28, 2019 | 23 | 2019 |
| Pachyonychia congenita: a spectrum of KRT 6a mutations in Australian patients CE Forrest, G Casey, DA Mordaunt, EM Thompson, L Gordon Pediatric Dermatology 33 (3), 337-342, 2016 | 20 | 2016 |
| Improving 30-day readmission risk predictions using machine learning K Hempstalk, D Mordaunt Health Informatics New Zealand (HiNZ) Conference 2016, 2016 | 12 | 2016 |
| See How They Grow: Testing the feasibility of a mobile app to support parents’ understanding of child growth charts G Humphrey, R Dobson, V Parag, M Hiemstra, S Howie, S Marsh, ... PLoS One 16 (2), e0246045, 2021 | 8 | 2021 |
| Uptake and diagnostic yield of chromosomal microarray in an Australian child development clinic D Mordaunt, M Gabbett, M Waugh, K O’Brien, H Heussler Children 1 (1), 21-30, 2014 | 8 | 2014 |
| HDAC8-deficiency causes an X-linked dominant disorder with a wide range of severity. DA Mordaunt, A McLauchlan Clinical Genetics 88 (1), 98-98, 2015 | 7 | 2015 |
| Uptake of funded genomic testing for syndromic and non-syndromic intellectual disability in Australia DA Mordaunt, K Dalziel, I Goranitis, Z Stark European Journal of Human Genetics 31 (9), 977-979, 2023 | 6 | 2023 |
| Micro-costing diagnostic genomic sequencing: a systematic review FS Gonzalez, D Mordaunt, Z Stark, K Dalziel, J Christodoulou, I Goranitis Genetics in Medicine, 100829, 2023 | 6 | 2023 |
| Does IARS2 deficiency cause an intrinsic disorder of bone development (skeletal dysplasia) or are the reported skeletal changes secondary to growth hormone deficiency and … DA Mordaunt, R Savaririyan Human Mutation 36 (3), 388-388, 2015 | 5 | 2015 |
| Presentation of m. 3243A> G (MT‐TL1; tRNALeu) variant with focal neurology in infancy DA Mordaunt, LC McIntyre, H Salvemini, A Ibrahim, D Bratkovic, ... American Journal of Medical Genetics Part A 167 (11), 2697-2701, 2015 | 3 | 2015 |
| 8q13. 1-q13. 2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome? D Mordaunt, BE Oftedal, A McLauchlan, D Coates, W Waters, H Scott, ... Pediatric Neurology 52 (2), 230-234. e1, 2015 | 3 | 2015 |
| The cost of proband and trio exome and genome analysis in rare disease: a micro-costing study Dylan A Mordaunt, Francisco Santos Gonzalez, Sebastian Lunke, Stefanie ... Genetics in Medicine, 2023 | 2 | 2023 |
| Development of a microcosting protocol to determine the economic cost of diagnostic genomic testing for rare diseases in Australia DA Mordaunt, Z Stark, FS Gonzalez, K Dalziel, I Goranitis BMJ open 13 (11), e069441, 2023 | 2 | 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 PH Andraweera, B Wang, M Danchin, C Blyth, I Vlaev, J Ong, J Dodd, ... Trials 24 (1), 454, 2023 | 2 | 2023 |
Zornitza StarkVictorian Clinical Genetics Services; Australian GenomicsVerified email at vcgs.org.au
