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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

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

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

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