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2026 Journal Article “There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South AsiansNathan, Vaishnavi, Akbar, Heena, McInerney-Leo, Aideen, Gilroy, Deborah, Henders, Anjali, Naresh, Reema, Choudhury, Nahid, Waqar, Maleeha, Shah, Sonia, Yanes, Tatiane, on behalf of the South Asian Genes and Health in Australia (SAGHA) research team, Atherton, John, Greaves, Kim, McGaughran, Julie, Mehta, Divya, Villani, Rehan Marie, Wallis, Katharine and Wray, Naomi R. (2026). “There’s no representation”: a qualitative study of attitudes and motivations towards genomic research participation among Australian South Asians. European Journal of Human Genetics. doi: 10.1038/s41431-026-02129-3 |
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2026 Journal Article How has the rise of direct‐to‐consumer genetic testing impacted genetic counselling practice? A scoping reviewMcKinney, Cushla, Newton, Giselle, Nathan, Vaishnavi and McInerney‐Leo, Aideen (2026). How has the rise of direct‐to‐consumer genetic testing impacted genetic counselling practice? A scoping review. Clinical Genetics, 109 (5) cge.70150, 819-836. doi: 10.1111/cge.70150 |
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2026 Conference Publication Review of HS genetics and whole exome sequencing of Australia's first Hidradenitis Suppurativa cohortMaas, Ellie, Kahler, Sam, Snehlata, Kumari, Khosrotehrani, Kiarash, McMeniman, Erin and McInerney-Leo, Aideen (2026). Review of HS genetics and whole exome sequencing of Australia's first Hidradenitis Suppurativa cohort. Australasian College of Dermatologists, 58th Annual Scientific Meeting, Melbourne, VIC, Australia, 16-18 May 2026. Richmond, VIC, Australia: John Wiley & Sons. doi: 10.1111/ajd.70104 |
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2026 Conference Publication Three dimensional total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma riskKahler, Sam, Primiero, Clare, Mothershaw, Adam, Jayasinghe, Dilki, Betz-Stablein, Brigid, Janda, Monika, Soyer, H. Peter and McInerney-Leo, Aideen (2026). Three dimensional total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk. Australasian College of Dermatologists, 58th Annual Scientific Meeting, Melbourne, VIC, Australia, 16-18 May 2026. Richmond, VIC, Australia: John Wiley & Sons. doi: 10.1111/ajd.70101 |
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2026 Journal Article Preparing healthcare providers to use polygenic risk scores: a qualitative study of learning needs and educational preferencesClark, Amy, Wallingford, Courtney K., Berkman, Jennifer, McInerney-Leo, Aideen, Nisselle, Amy, Terrill, Bronwyn, Palpant, Nathan, Young, Mary-Anne, James, Paul A. and Yanes, Tatiane (2026). Preparing healthcare providers to use polygenic risk scores: a qualitative study of learning needs and educational preferences. BMJ Open, 16 (5) e111898, e111898-5. doi: 10.1136/bmjopen-2025-111898 |
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2026 Journal Article AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airwaysThüß, Dörthe, Liu, Ying, Dougherty, Gerard W., Maas, Ellie J., He, Jie, Zhou, Xianglin, Schultz, André, Nielsen, Kim G., Omran, Heymut, Luo, Hong, the AK8 Study Group, McInerney-Leo, Aideen M., Yang, Binyi, Yang, Danhui, Lei, Cheng, Guo, Ting, Guo, Manqing, Fan, Hui, Ding, Shuizi, Liu, Lv, Duncan, Emma L., Wohlgemuth, Kai, Bracht, Diana C., Olbrich, Heike, Loges, Niki T., Rieck, Cynthia, Wilken, Alina, König, Julia, Hjeij, Rim ... Otto, Dominik (2026). AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways. American Journal of Respiratory and Critical Care Medicine aamag214. doi: 10.1093/ajrccm/aamag214 |
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2026 Journal Article Consumer and community involvement in health research in Australia: evaluation of researcher training workshopsMcGahan, Ella G., DeBortoli, Emily, Maxwell, Jo, Frank, Belinda, McKenzie, Anne and McInerney-Leo, Aideen M. (2026). Consumer and community involvement in health research in Australia: evaluation of researcher training workshops. Public Health Research and Practice, 36 (2) PU25010. doi: 10.1071/pu25010 |
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2026 Journal Article Genotype- dermatological phenotype correlations in CDKN2A, POT1, POLE, BAP1 variant carriers using 3D total-body-imagingMaas, Ellie J., Kahler, Sam, Betz-Stablein, Brigid, Gillis, Maura C., Primiero, Clare, Portony, Miriam, Mothershaw, Adam, Berkman, Jenny, De Bortoli, Emily, Pham, Thi, Weir, Vanessa, Kurtansk, Nicholas, Serra-García, Laura, Carrera, Cristina, Aguilera, Paula, Malvehy, Josep, Puig, Susana, Rotemberg, Veronica, Soyer, H. Peter and McInerney-Leo, Aideen M. (2026). Genotype- dermatological phenotype correlations in CDKN2A, POT1, POLE, BAP1 variant carriers using 3D total-body-imaging. British Journal of Dermatology ljag137. doi: 10.1093/bjd/ljag137 |
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2026 Journal Article Automating skin colour assessment using 3D 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 (2026). Automating skin colour assessment using 3D total‐body photography: A proof‐of‐concept study. Journal of the European Academy of Dermatology and Venereology, 40 (3) jdv.70146, 528-530. doi: 10.1111/jdv.70146 |
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2026 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 (2026). 3D-total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk. British Journal of Dermatology, 194 (3) ljaf440, 531-539. doi: 10.1093/bjd/ljaf440 |
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2026 Journal Article MITF E318K naevus phenotype: the modifying role of MC1R Red Hair VariantsKahler, Sam, Serra-García, Laura, Maas, Ellie, Potrony, Miriam, Aguilera, Paula, Mothershaw, Adam, Primiero, Clare, Malvehy, Josep, Soyer, H. Peter, Puig, Susana and McInerney-Leo, Aideen (2026). MITF E318K naevus phenotype: the modifying role of MC1R Red Hair Variants. Journal of Investigative Dermatology. doi: 10.1016/j.jid.2026.03.017 |
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2026 Journal Article Population‐based melanoma screening using integrated risk scores in Australia: A narrative review to determine readinessWallingford, Courtney K., Mighton, Chloe, Dawson, Tamara, Cust, Anne, Soyer, H. Peter, Bombard, Yvonne, Yanes, Tatiane and McInerney‐Leo, Aideen (2026). Population‐based melanoma screening using integrated risk scores in Australia: A narrative review to determine readiness. Medical Journal of Australia, 224 (2) e70133, 1-11. doi: 10.5694/mja2.70133 |
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2025 Conference Publication A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of ImmunityDeBortoli, Emily, Clinch, Tenielle, Burbury, Lucy, Clark, Amy, Pinzon-Charry, Alberto, Melo, Mariana, Sullivan, Anna, Peake, Jane, McInerney-Leo, Aideen, McNaughton, Peter, Taylor, Natalie, McKay, Skye and Yanes, Tatiane (2025). A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity. 35th Annual Conference of the Australasian Society of Clinical Immunology and Allergy (ASCIA), Brisbane, QLD Australia, 2-5 September 2025. New York, NY United States: Rockefeller University Press. doi: 10.70962/ascia2025abstract.p154 |
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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, 39 (11) e950, 1-6. doi: 10.1111/jdv.20673 |
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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 |
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2025 Conference Publication "It's a godsend" A qualitative exploration of parent experiences of mainstreamed genetic testing for inborn errors of immunityYanes, Tatiane, DeBortoli, Emily, Clark, Amy, Blancoe, Marisa, Sgro, Chris Rocco, McInerney-Leo, Aideen, Pinzon-Charry, Alberto, Melo, Mariana, Peake, Jane, Sullivan, Anna and McNaughton, Peter (2025). "It's a godsend" A qualitative exploration of parent experiences of mainstreamed genetic testing for inborn errors of immunity. 58th European Society of Human Genetics (ESHG) Conference, Milan, Italy, 24-27 May 2025. London, United Kingdom: Nature Publishing Group. doi: 10.1038/s41431-025-01936-4 |
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2025 Conference Publication Polygenic risk in practice: an evaluation of genetic health care providers' learning needs and preferencesBerkman, Jennifer, Clark, Amy, Wallingford, Courtney K., Nisselle, Amy, Terrill, Bronwyn, Young, Mary-Anne, James, Paul, McInerney-Leo, Aideen and Yanes, Tatiane (2025). Polygenic risk in practice: an evaluation of genetic health care providers' learning needs and preferences. 58th European Society of Human Genetics (ESHG) Conference, Milan, Italy, 24-27 May 2025. London, United Kingdom: Nature Publishing Group. doi: 10.1038/s41431-025-01935-5 |
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2025 Conference Publication Mainstreaming genomic testing for paediatric inborn errors of immunityDeBortoli, Emily, Clinch, Tenielle, McInerney-Leo, Aideen, Sullivan, Anna, Pinzon-Charry, Alberto, Melo, Mariana, Peake, Jane, McNaughton, Peter and Yanes, Tatiane (2025). Mainstreaming genomic testing for paediatric inborn errors of immunity. 58th European Society of Human Genetics (ESHG) Conference, Milan, Italy, 24-27 May 2025. London, United Kingdom: Nature Publishing Group. doi: 10.1038/s41431-025-01935-5 |
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2025 Journal Article Germline CDKN2A 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, 1-6. doi: 10.1111/pcmr.70055 |
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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 |
