| Recommendations for clinical interpretation of variants found in non-coding regions of the genome JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ... Genome medicine 14 (1), 73, 2022 | 139 | 2022 |
| Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures TJ Evans, E Milne, D Anderson, NH De Klerk, SE Jamieson, ... PloS one 9 (10), e110255, 2014 | 72 | 2014 |
| Sex discordance identification following non‐invasive prenatal testing EJ Richardson, FP Scott, AC McLennan Prenatal Diagnosis 37 (13), 1298-1304, 2017 | 43 | 2017 |
| Psychosocial implications of living with catecholaminergic polymorphic ventricular tachycardia in adulthood E Richardson, C Spinks, A Davis, C Turner, J Atherton, J McGaughran, ... Journal of Genetic Counseling 27, 549-557, 2018 | 28 | 2018 |
| Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: a systematic scoping review A Crook, C Jacobs, T Newton-John, E Richardson, A McEwen Alzheimer Disease & Associated Disorders 35 (4), 374-385, 2021 | 21 | 2021 |
| A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome C Jiang, E Richardson, J Farr, AP Hill, R Ullah, BM Kroncke, SM Harrison, ... The American Journal of Human Genetics 109 (7), 1199-1207, 2022 | 20 | 2022 |
| The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic F Stafford, N Krishnan, E Richardson, A Butters, S Hespe, C Burns, B Gray, ... Genome Medicine 14 (1), 145, 2022 | 17 | 2022 |
| Decision-making about genetic health information among family dyads: a systematic literature review WK Law, HE Yaremych, RA Ferrer, E Richardson, YP Wu, E Turbitt Health psychology review 16 (3), 412-429, 2022 | 12 | 2022 |
| The Core Outcome DEvelopment for Carrier Screening (CODECS) study: protocol for development of a core outcome set E Richardson, A McEwen, T Newton-John, K Manera, C Jacobs Trials 22, 1-11, 2021 | 12 | 2021 |
| Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set E Richardson, A McEwen, T Newton-John, A Crook, C Jacobs Genetics in Medicine 24 (1), 1-14, 2022 | 11 | 2022 |
| Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay KL Thomson, C Jiang, E Richardson, DS Westphal, T Burkard, CM Wolf, ... Human Genetics and Genomics Advances 5 (2), 2024 | 9 | 2024 |
| Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review E Richardson, A McEwen, T Newton-John, A Crook, C Jacobs European Journal of Human Genetics 30 (7), 756-765, 2022 | 8 | 2022 |
| Activity of etv5a and etv5b genes in the hypothalamus of fasted zebrafish is influenced by serotonin AS Mechaly, E Richardson, S Rinkwitz General and Comparative Endocrinology 246, 233-240, 2017 | 8 | 2017 |
| Outcomes of importance to patients in reproductive genetic carrier screening: a qualitative study to inform a core outcome set E Richardson, A McEwen, T Newton-John, A Crook, C Jacobs Journal of personalized medicine 12 (8), 1310, 2022 | 6 | 2022 |
| Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch clamp assay KL Thomson, C Jiang, E Richardson, DS Westphal, T Burkard, CM Wolf, ... medRxiv, 2023.10. 08.23296707, 2023 | 2 | 2023 |
| Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome–Associated Variants JG Ma, MJ O’Neill, E Richardson, KL Thomson, J Ingles, A Muhammad, ... Circulation: Genomic and Precision Medicine 17 (4), e004569, 2024 | 1 | 2024 |
| Defining core outcomes of reproductive genetic carrier screening: A Delphi survey of Australian and New Zealand stakeholders E Richardson, A McEwen, T Newton‐John, C Jacobs Prenatal diagnosis 43 (9), 1150-1165, 2023 | 1 | 2023 |
| Utility of a high-throughput electrophysiology assay to determine pathogenicity of SCN5A variants associated with Brugada syndrome G Ma, M O’Neill, E Richardson, K Thomson, J Ingles, D Roden, ... Heart, Lung and Circulation 32, S131-S132, 2023 | 1 | 2023 |
| Correction: Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review. E Richardson, A McEwen, T Newton-John, A Crook, C Jacobs Eur J Hum Genet, 2022 | 1 | 2022 |
| Improving the quality of pathology reports M Gruzin, C Long, H Taouk, J Leon, E Gunasekera, F De Bond, ... Pathology 57, S76-S77, 2025 | | 2025 |
