| Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene C Beard, R Purvis, IM Winship, FA Macrae, DD Buchanan Familial Cancer 18 (3), 311-315, 2019 | 27 | 2019 |
| The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective D Eratne, A Schneider, E Lynch, M Martyn, D Velakoulis, M Fahey, ... Journal of the neurological sciences 420, 117260, 2021 | 20 | 2021 |
| Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer JM Chan, M Clendenning, S Joseland, P Georgeson, K Mahmood, ... Familial Cancer, 1-15, 2021 | 9 | 2021 |
| Clinical impact of whole-genome sequencing in patients with early-onset dementia AJ Huq, B Thompson, MF Bennett, A Bournazos, S Bommireddipalli, ... Journal of Neurology, Neurosurgery & Psychiatry, 2022 | 7 | 2022 |
| Assessing the acceptability, feasibility, and usefulness of a psychosocial screening tool to patients and clinicians in a clinical genetics service in Australia K Monohan, R Purvis, A Sexton, M Kentwell, M Thet, L Stafford, L Forrest Journal of Genetic Counseling 31 (3), 653-662, 2022 | 5 | 2022 |
| Young people’s experiences of a CDH1 pathogenic variant: Decision‐making about gastric cancer risk management C Hoskins, E Tutty, R Purvis, M Shanahan, A Boussioutas, L Forrest Journal of Genetic Counseling 31 (1), 242-251, 2022 | 5 | 2022 |
| Suicide in frontotemporal dementia and Huntington disease: analysis of family-reported pedigree data and implications for genetic healthcare for asymptomatic relatives A Sexton, K West, G Gill, A Wiseman, J Taylor, R Purvis, M Fahey, ... Psychology & Health 36 (11), 1397-1402, 2021 | 4 | 2021 |
| Becoming and being a parent with an inherited predisposition to diffuse gastric cancer: A qualitative study of young adults with a CDH1 pathogenic variant E Tutty, R Forbes Shepherd, C Hoskins, R Purvis, M Shanahan, ... Journal of Psychosocial Oncology, 1-17, 2022 | | 2022 |
| A new model of care for women at average to moderate risk of familial breast cancer KJ Storey, E Higgs, R Purvis, M Kentwell, T Schenberg, Y Antill EUROPEAN JOURNAL OF HUMAN GENETICS 27, 714-715, 2019 | | 2019 |
