|
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, 39 (11) e950, 1-6. doi: 10.1111/jdv.20673 |
|
2025 Journal Article Privacy in imaging for dermatology researchCaffery, Liam J., Sullivan, Ryan P., McInerney-Leo, Aideen, Lawn, Craig, Mendis, Roshni A., Janda, Monika, Halpern, Allan C. and Soyer, H. Peter (2025). Privacy in imaging for dermatology research. Journal of Investigative Dermatology, 145 (11), 2662-2664. doi: 10.1016/j.jid.2025.06.1288 |
|
2025 Journal Article 3D-total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma riskKahler, Sam, Primiero, Clare, Mothershaw, Adam, Jayasinghe, Dilki, Rutjes, Chantal, Betz-Stablein, Brigid, Janda, Monika, Soyer, H. Peter and McInerney-Leo, Aideen (2025). 3D-total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk. British Journal of Dermatology ljaf440. doi: 10.1093/bjd/ljaf440 |
|
2025 Journal Article Automating skin colour assessment using <scp>3D</scp> total‐body photography: A proof‐of‐concept studyRutjes, Chantal, Primiero, Clare A., Mothershaw, Adam, Betz‐Stablein, Brigid, Muller, Nicholas M., Liu, Timothy J., McInerney‐Leo, Aideen, Janda, Monika, Soyer, Hans Peter and Jayasinghe, Dilki (2025). Automating skin colour assessment using 3D total‐body photography: A proof‐of‐concept study. Journal of the European Academy of Dermatology and Venereology jdv.70146. doi: 10.1111/jdv.70146 |
|
2025 Journal Article Germline <scp><i>CDKN2A</i></scp> Variant Cascade Testing Across Four Generations Reveals Familial Melanoma–Breast Cancer Genotype–Phenotype CorrelationBerkman, Jennifer, Maas, Ellie J., DeBortoli, E., Primiero, Clare A., Soyer, H. Peter and McInerney‐Leo, Aideen (2025). Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma–Breast Cancer Genotype–Phenotype Correlation. Pigment Cell & Melanoma Research, 38 (5) e70055, e70055. doi: 10.1111/pcmr.70055 |
|
2025 Journal Article Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember”Burbury, Lucy, Ayres, Samantha, Boyle, Jackie, Renton, Heather and McInerney-Leo, Aideen (2025). Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: “It's the more negative ones that you remember”. Journal of Genetic Counseling, 34 (4) e70102. doi: 10.1002/jgc4.70102 |
|
2025 Journal Article Utility of germline, somatic and ctDNA testing in adults with cancerDeBortoli, Emily, McGahan, Ella, Yanes, Tatiane, Berkman, Jennifer, Aoude, Lauren G., Smit, Amelia K., Gokoolparsadh, Akira, Hermes, Azure, Newett, Lyndsay, Bourke, Mackenzie, Hanson, Susan, Hughes, Helen, Hofmann, Oliver, Goranitis, Ilias, McWhirter, Rebekah, Milch, Vivienne, Steinberg, Julia and McInerney‐Leo, Aideen (2025). Utility of germline, somatic and ctDNA testing in adults with cancer. Cancer Medicine, 14 (15) e71080, 1-17. doi: 10.1002/cam4.71080 |
|
2025 Journal Article “It’s a Godsend”: parental experiences of genomic testing for paediatric inborn errors of immunityClark, Amy, DeBortoli, Emily, Blancoe, Marisa, Sgro, Christopher, Clinch, Tenielle, Melo, Mariana, Pinzon-Charry, Alberto, Sullivan, Anna, McInerney-Leo, Aideen, Peake, Jane, McNaughton, Peter and Yanes, Tatiane (2025). “It’s a Godsend”: parental experiences of genomic testing for paediatric inborn errors of immunity. European Journal of Human Genetics, 33 (10), 1342-1349. doi: 10.1038/s41431-025-01917-7 |
|
2025 Journal Article Unpredictable interdependence of invasive and in situ melanomaKahler, Sam, Primiero, Clare, Jayasinghe, Dilki, Mothershaw, Adam, Janda, Monika, Betz-Stablein, Brigid, Soyer, H. Peter and McInerney-Leo, Aideen (2025). Unpredictable interdependence of invasive and in situ melanoma. British Journal of Dermatology, 193 (4) ljaf235, 782-784. doi: 10.1093/bjd/ljaf235 |
|
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, 33 (7) 5, 1-11. doi: 10.1038/s41431-025-01846-5 |
|
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, 13 (8), 1918-1927. doi: 10.1016/j.jaip.2025.03.052 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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, e1996. doi: 10.1002/jgc4.1996 |
