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2026

Conference Publication

Three dimensional total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk

Kahler, 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

Three dimensional total body photography identifies cutaneous phenotypes associated with late-onset invasive melanoma risk

2026

Conference Publication

Review of HS genetics and whole exome sequencing of Australia's first Hidradenitis Suppurativa cohort

Maas, 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

Review of HS genetics and whole exome sequencing of Australia's first Hidradenitis Suppurativa cohort

2025

Conference Publication

A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity

DeBortoli, 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

A Theory-Informed Approach to Delivering Genomic Testing for Paediatric Inborn Errors of Immunity

2025

Conference Publication

Polygenic risk in practice: an evaluation of genetic health care providers' learning needs and preferences

Berkman, 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

Polygenic risk in practice: an evaluation of genetic health care providers' learning needs and preferences

2025

Conference Publication

Mainstreaming genomic testing for paediatric inborn errors of immunity

DeBortoli, 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

Mainstreaming genomic testing for paediatric inborn errors of immunity

2025

Conference Publication

"It's a godsend" A qualitative exploration of parent experiences of mainstreamed genetic testing for inborn errors of immunity

Yanes, 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

"It's a godsend" A qualitative exploration of parent experiences of mainstreamed genetic testing for inborn errors of immunity

2025

Conference Publication

Automating skin colour assessment for melanoma risk stratification using 3D total body photography

Rutjes, Chantal, Jayasinghe, Dilki, Mothershaw, Adam, Betz-Stablein, Brigid, Primiero, Clare, McInerney-Leo, Aideen, Janda, Monika and Soyer, H. Peter (2025). Automating skin colour assessment for melanoma risk stratification using 3D total body photography. Australasian College of Dermatologists, 57th Annual Scientific Meeting, Brisbane, QLD, Australia, 31 May - 2 June 2025. Richmond, VIC, Australia: John Wiley & Sons. doi: 10.1111/ajd.14495

Automating skin colour assessment for melanoma risk stratification using 3D total body photography

2025

Conference Publication

Mainstreaming melanoma genetic testing: Comparable participant outcomes between dermatologists and genetic counsellors

Primiero, Clare, DeBortoli, Emily, Wallingford, Courtney, Berkman, Jennifer, Yanes, Tatiane, Finnane, Anna, Soyer, H. Peter and McInerney-Leo, Aideen (2025). Mainstreaming melanoma genetic testing: Comparable participant outcomes between dermatologists and genetic counsellors. Australasian College of Dermatologists, 57th Annual Scientific Meeting, Brisbane, QLD, Australia, 31 May - 2 June 2025. Richmond, VIC, Australia: John Wiley & Sons. doi: 10.1111/ajd.14507

Mainstreaming melanoma genetic testing: Comparable participant outcomes between dermatologists and genetic counsellors

2025

Conference Publication

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. 21st EADO Congress & 11th World Congress of Melanoma, Athens, Greece, 3-5 April 2025. London, United Kingdom: Elsevier. doi: 10.1016/j.ejcskn.2025.100505

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

2024

Conference Publication

Australia's largest primary ciliary dyskinesia cohort: exploring the genetic background

Maas, Ellie, Marshall, Mhairi, Leo, Paul, Cook, Anne, Gantert, Katherine, Morgan, Lucy, Chang, Anne Bernadette, Duncan, Emma and McInerney-Leo, Aideen (2024). Australia's largest primary ciliary dyskinesia cohort: exploring the genetic background. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, Scotland, 10-13 June 2023. London, United Kingdom: Nature Publishing Group.

Australia's largest primary ciliary dyskinesia cohort: exploring the genetic background

2024

Conference Publication

Evaluating a protocol for communicating melanoma personalised risk scores: a pilot study

Wallingford, Courtney, Law, Matthew, Mothershaw, Adam, Acevedo, Astrid Rodriguez, Soyer, Hans Peter, McInerney-Leo, Aideen and Yanes, Tatiane (2024). Evaluating a protocol for communicating melanoma personalised risk scores: a pilot study. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, Scotland, 10-13 June 2023. London, United Kingdom: Nature Publishing Group.

Evaluating a protocol for communicating melanoma personalised risk scores: a pilot study

2023

Conference Publication

Unusual suspects in hereditary melanoma: POT1, POLE and BAP1

Maas, Ellie, Betz-Stablein, Brigid, Aoude, Lauren, Soyer, Hans Peter and McInerney-Leo, Aideen (2023). Unusual suspects in hereditary melanoma: POT1, POLE and BAP1. 55th European Society of Human Genetics (ESHG) Conference, Vienna, Austria, 11-14 June 2022. London, United Kingdom: Nature Publishing Group.

Unusual suspects in hereditary melanoma: POT1, POLE and BAP1

2023

Conference Publication

Models of communication for polygenic scores and associated behavioural and psychological outcomes: a systematic review

Wallingford, Courtney, Kovilpillai, Hannah, Jacobs, Chris, Turbitt, Erin, Primiero, Clare, Brockman, Deanna, Soyer, Hans Peter, McInerney-Leo, Aideen and Yanes, Tatiane (2023). Models of communication for polygenic scores and associated behavioural and psychological outcomes: a systematic review. 55th European Society of Human Genetics (ESHG) Conference, Vienna, Austria, 11-14 June 2022. London, United Kingdom: Nature Publishing Group.

Models of communication for polygenic scores and associated behavioural and psychological outcomes: a systematic review

2022

Conference Publication

Australian dermatologists' attitudes and confidence in utilising genetic testing and preferences for future training modalities: A cross-sectional survey

Primiero, Clare, Baker, Amy, Wallingford, Courtney, Maas, Ellie, Tiller, Jane, Lacaze, Paul, Nisselle, Amy, Janda, Monika, Soyer, Peter and McInerney-Leo, Aideen (2022). Australian dermatologists' attitudes and confidence in utilising genetic testing and preferences for future training modalities: A cross-sectional survey. Australasian College of Dermatologists 54th Annual Scientific Meeting, Discover Connect Collaborate, Adelaide, SA Australia, 30 April to 3 May 2022. Richmond, VIC Australia: John Wiley and Sons. doi: 10.1111/ajd.6_13832

Australian dermatologists' attitudes and confidence in utilising genetic testing and preferences for future training modalities: A cross-sectional survey

2013

Conference Publication

Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta

Duncan, Emma, McInerney-Leo, Aideen, Leo, Paul, Gardiner, Brooke, Marshall, Mhairi, Coucke, Paul, Loeys, Bart, West, Malcolm, West, Jennifer, Wordsworth, Paul, Zankl, Andreas, Brown, Matthew and van Laer, Lut (2013). Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta. Annual Meeting of the American Society for Bone and Mineral Research, Baltimore, MD, United States, 4-7 October 2013. Hoboken, NJ, United States: Wiley-Blackwell.

Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta

2012

Conference Publication

Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis

McInerney-Leo, A., Zankl, A., Duncan, E., Clark, G., Leo, P., Glasov, E. and Brown, M. (2012). Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis. Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting, Canberra, Australia, 12-15 May 2012. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/j.1445-5994.2012.02759.x

Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis

2011

Conference Publication

Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era

McInerney-Leo, A., Glasov, E., Duncan, E. and Zankl, A. (2011). Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era. Rheumatology Health Professionals Association 52nd Annual Scientific Meeting, Brisbane, Queensland, 14-17 May 2011. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/j.1445-5994.2010.02467.x

Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era