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2025 Journal Article Empowering human research ethics committees to review genomics applications: evaluating the utility of a custom online education resourceMcGahan, Ella, Berkman, Jennifer, Milne, David, Terrill, Bronwyn, Gear, Russell, Gardiner, Susan, Eckstein, Lisa, Nicol, Dianne, Taylor, Natalie, Winship, Ingrid, McWhirter, Rebekah, Nisselle, Amy, Lodge, Jason and McInerney-Leo, Aideen (2025). Empowering human research ethics committees to review genomics applications: evaluating the utility of a custom online education resource. European Journal of Human Genetics 5, 1-11. doi: 10.1038/s41431-025-01846-5 |
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2025 Journal Article Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohortMaas, Ellie J., Wallingford, Courtney K,, De Bortoli, Emily, Primiero, Clare, Freeman, Ned P., Smit, Darren J., Lee, Katie J., Jagirdar, Kasturee, McMeniman, Erin, Betz-Stablein, Brigid, Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen (2025). Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohort. Journal of the European Academy of Dermatology and Venereology: JEADV. doi: 10.1111/jdv.20673 |
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2025 Journal Article Utility of genomic testing in children, adolescents, and young adults with cancerDebortoli, Emily, McGahan, Ella, Yanes, Tatiane, Berkman, Jennifer, Fuentes-Bolanos, Noemi, Milch, Vivienne, Steinberg, Julia and Mcinerney-Leo, Aideen (2025). Utility of genomic testing in children, adolescents, and young adults with cancer. JNCI: Journal of the National Cancer Institute, 117 (4), 601-610. doi: 10.1093/jnci/djae233 |
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2025 Journal Article Genetic counseling in pediatric inborn errors of immunity: Perspective piece on current practice and considerationsDeBortoli, Emily, McInerney-Leo, Aideen, Macintosh, Rebecca, Zelnick, Michelle, Gray, Paul, McNaughton, Peter and Yanes, Tatiane (2025). Genetic counseling in pediatric inborn errors of immunity: Perspective piece on current practice and considerations. The Journal of Allergy and Clinical Immunology: In Practice. doi: 10.1016/j.jaip.2025.03.052 |
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2025 Journal Article Combining automated lesion risk and change assessment improves melanoma detection: a retrospective accuracy studyRutjes, Chantal, Mothershaw, Adam, D’Alessandro, Brian M., Primiero, Clare A., McInerney-Leo, Aideen, Soyer, H. Peter, Janda, Monika and Betz-Stablein, Brigid (2025). Combining automated lesion risk and change assessment improves melanoma detection: a retrospective accuracy study. Journal of Investigative Dermatology, 145 (3), 703-706.e1. doi: 10.1016/j.jid.2024.07.027 |
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2025 Journal Article Genetic counsellors: facilitating the integration of genomics into health careYanes, Tatiane, Courtney, Eliza, Young, Mary‐Anne, Pearn, Amy, McInerney‐Leo, Aideen and Ingles, Jodie (2025). Genetic counsellors: facilitating the integration of genomics into health care. Medical Journal of Australia, 222 (3), 114-117. doi: 10.5694/mja2.52568 |
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2025 Journal Article Mainstreaming cancer genomic testing: a scoping review of the acceptability, efficacy, and impactBerkman, Jennifer, DeBortoli, Emily, Steinberg, Julia, Milch, Vivienne, Yanes, Tatiane and McInerney‐Leo, Aideen (2025). Mainstreaming cancer genomic testing: a scoping review of the acceptability, efficacy, and impact. Clinical Genetics, 107 (2), 123-135. doi: 10.1111/cge.14660 |
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2025 Journal Article The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominatesKriukelis, Rebecca, Gabbett, Michael T., Beswick, Rachael, McInerney-Leo, Aideen M., Driscoll, Carlie and Liddle, Karen (2025). The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates. European Journal of Human Genetics, 33 (2), 208-219. doi: 10.1038/s41431-024-01584-0 |
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2025 Journal Article Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellorsMcInerney-Leo, A., DeBortoli, E., Primiero, C., Wallingford, C., Berkman, J., Yanes, T., Finnane, A. and Soyer, H.P. (2025). Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors. EJC Skin Cancer, 3 100505, 100505. doi: 10.1016/j.ejcskn.2025.100505 |
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2025 Journal Article Evaluating an approach for communicating integrated risk scores for melanomaWallingford, Courtney K., Mothershaw, Adam, Primiero, Clare, Clinch, Tenielle, Dawson, Tamara, Ingold, Nathan, Soyer, H. Peter, Law, Matthew H., McInerney-Leo, Aideen and Yanes, Tatiane (2025). Evaluating an approach for communicating integrated risk scores for melanoma. European Journal of Human Genetics, 33 (4), 523-530. doi: 10.1038/s41431-024-01750-4 |
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2025 Journal Article The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature ReviewBourke, Mackenzie, McInerney-Leo, Aideen, Steinberg, Julia, Boughtwood, Tiffany, Milch, Vivienne, Ross, Anna Laura, Ambrosino, Elena, Dalziel, Kim, Franchini, Fanny, Huang, Li, Peters, Riccarda, Gonzalez, Francisco Santos and Goranitis, Ilias (2025). The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review. Applied Health Economics and Health Policy, 23 (3) e182140, 1-35. doi: 10.1007/s40258-025-00949-w |
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2024 Journal Article Ethical, legal and social issues related to genetics and genomics in cancer: a scoping review and narrative synthesisSmit, Amelia K., Gokoolparsadh, Akira, McWhirter, Rebekah, Newett, Lyndsay, Milch, Vivienne, Hermes, Azure, McInerney-Leo, Aideen and Newson, Ainsley J. (2024). Ethical, legal and social issues related to genetics and genomics in cancer: a scoping review and narrative synthesis. Genetics in Medicine, 26 (12) 101270, 101270. doi: 10.1016/j.gim.2024.101270 |
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2024 Journal Article Exploring the journey to genomic testing and genetic services: a qualitative study of parental perspectives of children with rare conditionsClark, Amy, Wallingford, Courtney K., Krause, Molly, Renton, Heather, Yanes, Tatiane, Jacobs, Chris, Brett, Gemma and McInerney‐Leo, Aideen (2024). Exploring the journey to genomic testing and genetic services: a qualitative study of parental perspectives of children with rare conditions. Journal of Genetic Counseling, 34 (3) e1996. doi: 10.1002/jgc4.1996 |
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2024 Journal Article Genomics predicting prognosis in Metastatic Extramammary Paget’s DiseaseMcInerney-Leo, Aideen M and McMeniman, Erin K (2024). Genomics predicting prognosis in Metastatic Extramammary Paget’s Disease. British Journal of Dermatology, 192 (1), 6-7. doi: 10.1093/bjd/ljae387 |
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2024 Journal Article “Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insuranceMuller, Cassandra, Gallacher, Lyndon, Keogh, Louise, McInerney-Leo, Aideen, Boughtwood, Tiffany, Gleeson, Penny, Barlow-Stewart, Kristine, Delatycki, Martin B., Winship, Ingrid, Nowak, Kristen J., Otlowski, Margaret, Lacaze, Paul and Tiller, Jane (2024). “Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance. European Journal of Human Genetics, 32 (7), 827-836. doi: 10.1038/s41431-024-01602-1 |
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2024 Journal Article Narrative therapy and family therapy in genetic counseling: a scoping reviewDane, Aimee, Berkman, Jennifer, DeBortoli, Emily, Wallingford, Courtney K., Yanes, Tatiane and McInerney‐Leo, Aideen (2024). Narrative therapy and family therapy in genetic counseling: a scoping review. Journal of Genetic Counseling, 34 (2) e1938. doi: 10.1002/jgc4.1938 |
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2024 Journal Article Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insuranceYanes, Tatiane, Blencoe, Marisa, Howard, Antonia, Tiller, Jane, Wallingford, Courtney, Otlowski, Margaret, Keogh, Louise, Lacaze, Paul and McInerney‐Leo, Aideen (2024). Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance. American Journal of Medical Genetics. Part A, 194 (6) e63565, 1-10. doi: 10.1002/ajmg.a.63565 |
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2024 Journal Article POT1 and multiple primary melanomas: the dermatological phenotypeMaas, Ellie J., DeBortoli, Emily, Nathan, Vaishnavi, Freeman, Ned P., Mothershaw, Adam, Smit, Darren J., Betz-Stablein, Brigid, Aoude, Lauren G., Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen M. (2024). POT1 and multiple primary melanomas: the dermatological phenotype. Journal of Medical Genetics, 61 (9) jmg-2023-109637, 1-4. doi: 10.1136/jmg-2023-109637 |
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2024 Journal Article Future implications of polygenic risk scores for life insurance underwritingYanes, Tatiane, Tiller, Jane, Haining, Casey M., Wallingford, Courtney, Otlowski, Margaret, Keogh, Louise, McInerney-Leo, Aideen and Lacaze, Paul (2024). Future implications of polygenic risk scores for life insurance underwriting. npj Genomic Medicine, 9 (1) 25, 25. doi: 10.1038/s41525-024-00407-x |
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2024 Journal Article Human Genetics Society of Australasia position statement: predictive and presymptomatic genetic testing in adults and childrenVears, Danya F., McLean, Alison, La Spina, Chloe, McInerney-Leo, Aideen and on behalf of the Education, Ethics and Social Issues Committee of the Human Genetics Society of Australasia (2024). Human Genetics Society of Australasia position statement: predictive and presymptomatic genetic testing in adults and children. Twin Research and Human Genetics, 27 (2), 120-127. doi: 10.1017/thg.2024.9 |
