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2025

Journal Article

Empowering human research ethics committees to review genomics applications: evaluating the utility of a custom online education resource

McGahan, 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

Empowering human research ethics committees to review genomics applications: evaluating the utility of a custom online education resource

2025

Journal Article

Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohort

Maas, 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

Prevalence of high-risk melanoma variants in early-onset and/or multiple primary melanoma in an Australian cohort

2025

Journal Article

Utility of genomic testing in children, adolescents, and young adults with cancer

Debortoli, 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

Utility of genomic testing in children, adolescents, and young adults with cancer

2025

Journal Article

Combining automated lesion risk and change assessment improves melanoma detection: a retrospective accuracy study

Rutjes, 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

Combining automated lesion risk and change assessment improves melanoma detection: a retrospective accuracy study

2025

Journal Article

Mainstreaming cancer genomic testing: a scoping review of the acceptability, efficacy, and impact

Berkman, 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

Mainstreaming cancer genomic testing: a scoping review of the acceptability, efficacy, and impact

2025

Journal Article

Genetic counsellors: facilitating the integration of genomics into health care

Yanes, 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

Genetic counsellors: facilitating the integration of genomics into health care

2025

Journal Article

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

Kriukelis, 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

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

2025

Journal Article

Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors

McInerney-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

Mainstreaming melanoma genetic testing: Participant outcomes comparable when testing is provided by dermatologists and genetic counsellors

2025

Journal Article

Evaluating an approach for communicating integrated risk scores for melanoma

Wallingford, 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

Evaluating an approach for communicating integrated risk scores for melanoma

2025

Journal Article

The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review

Bourke, 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 e182140, 1-35. doi: 10.1007/s40258-025-00949-w

The Cost Effectiveness of Genomic Medicine in Cancer Control: A Systematic Literature Review

2024

Journal Article

Ethical, legal and social issues related to genetics and genomics in cancer: a scoping review and narrative synthesis

Smit, 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

Ethical, legal and social issues related to genetics and genomics in cancer: a scoping review and narrative synthesis

2024

Journal Article

Exploring the journey to genomic testing and genetic services: A qualitative study of parental perspectives of children with rare conditions

Clark, 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. doi: 10.1002/jgc4.1996

Exploring the journey to genomic testing and genetic services: A qualitative study of parental perspectives of children with rare conditions

2024

Journal Article

Genomics predicting prognosis in Metastatic Extramammary Paget’s Disease

McInerney-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

Genomics predicting prognosis in Metastatic Extramammary Paget’s Disease

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 insurance

Muller, 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

“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance

2024

Journal Article

Narrative therapy and family therapy in genetic counseling: a scoping review

Dane, 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

Narrative therapy and family therapy in genetic counseling: a scoping review

2024

Journal Article

Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance

Yanes, 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

Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance

2024

Journal Article

POT1 and multiple primary melanomas: the dermatological phenotype

Maas, 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

POT1 and multiple primary melanomas: the dermatological phenotype

2024

Journal Article

Future implications of polygenic risk scores for life insurance underwriting

Yanes, 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

Future implications of polygenic risk scores for life insurance underwriting

2024

Journal Article

Human Genetics Society of Australasia position statement: predictive and presymptomatic genetic testing in adults and children

Vears, 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

Human Genetics Society of Australasia position statement: predictive and presymptomatic genetic testing in adults and children

2024

Journal Article

Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing

Tiller, Jane, Bakshi, Andrew, Dowling, Grace, Keogh, Louise, McInerney-Leo, Aideen, Barlow-Stewart, Kristine, Boughtwood, Tiffany, Gleeson, Penny, Delatycki, Martin B., Winship, Ingrid, Otlowski, Margaret and Lacaze, Paul (2024). Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing. European Journal of Human Genetics, 32 (3), 286-294. doi: 10.1038/s41431-023-01373-1

Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing