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2023 Journal Article MITF E318K: A rare homozygous case with multiple primary melanomaWallingford, Courtney K., Maas, Ellie J., Howard, Antonia, DeBortoli, Emily, Bhanja, Deboshmita, Lee, Katie, Mothershaw, Adam, Jagirdar, Kasturee, Willett, Rod, Betz‐Stablein, Brigid, Sturm, Richard A., Soyer, H. Peter and McInerney‐Leo, Aideen M. (2023). MITF E318K: A rare homozygous case with multiple primary melanoma. Pigment Cell & Melanoma Research, 37 (1), 68-73. doi: 10.1111/pcmr.13122 |
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2023 Journal Article Financial advisers’ and key informants’ perspectives on the Australian industry-led Moratorium on Genetic Tests in Life InsuranceHaining, Casey Michelle, Tiller, Jane, Otlowski, Margaret, Gleeson, Penny, Murawski, Carsten, Barlow-Stewart, Kristine, Lacaze, Paul, McInerney-Leo, Aideen and Keogh, Louise Anne (2023). Financial advisers’ and key informants’ perspectives on the Australian industry-led Moratorium on Genetic Tests in Life Insurance. Public Health Genomics, 26 (1), 123-134. doi: 10.1159/000533532 |
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2023 Journal Article Development and evaluation of a novel educational program for providers on the use of polygenic risk scoresYanes, Tatiane, Wallingford, Courtney, Young, Mary-Anne, McInerney-Leo, Aideen M., Willis, Amanda M., McKnight, Lauren, Terrill, Bronwyn, McInerny, Simone, Forrest, Laura E., Cicciarelli, Linda, Williams, Rachel, Keane, Holly and James, Paul A. (2023). Development and evaluation of a novel educational program for providers on the use of polygenic risk scores. Genetics in Medicine, 25 (8) 100876, 1-11. doi: 10.1016/j.gim.2023.100876 |
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2023 Journal Article GOLM1: expanding our understanding of melanoma susceptibilityMaas, Ellie J., Wallingford, Courtney K., DeBortoli, Emily, Smit, Darren J., Betz-Stablein, Brigid, Aoude, Lauren G., Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen M. (2023). GOLM1: expanding our understanding of melanoma susceptibility. Journal of Medical Genetics, 60 (9) jmg-2023-109348, 1-3. doi: 10.1136/jmg-2023-109348 |
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2023 Journal Article The MC1R r allele does not increase melanoma risk in MITF E318K carriersWallingford, Courtney K., Demeshko, Anastassia, Krishnakripa, Asha Krishnankutty, Smit, Darren J., Duffy, David L., Betz-Stablein, Brigid, Pflugfelder, Annette, Jagirdar, Kasturee, Holland, Elizabeth, Mann, Graham J., Primiero, Clare A., Yanes, Tatiane, Malvehy, Josep, Badenas, Cèlia, Carrera, Cristina, Aguilera, Paula, Olsen, Catherine M., Ward, Sarah V., Haass, Nikolas K., Sturm, Richard A., Puig, Susanna, Whiteman, David C., Law, Matthew H., Cust, Anne E., Potrony, Miriam, Soyer, H. Peter and McInerney-Leo, Aideen M. (2023). The MC1R r allele does not increase melanoma risk in MITF E318K carriers. British Journal of Dermatology, 188 (6), 770-776. doi: 10.1093/bjd/ljad041 |
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2023 Journal Article Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive ConditionsVears, Danya F., Boyle, Jackie, Jacobs, Chris, McInerney-Leo, Aideen and Newson, Ainsley J. (2023). Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions. Twin Research and Human Genetics, 57 (2) PII S1832427423000154, 1-7. doi: 10.1017/thg.2023.15 |
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2023 Journal Article Human Genetics Society of Australasia position statement: genetic testing and personal insurance products in AustraliaMcInerney-Leo, Aideen M., Ayres, Samantha, Boyle, Jackie, Jacobs, Chris and Newson, Ainsley J. (2023). Human Genetics Society of Australasia position statement: genetic testing and personal insurance products in Australia. Twin Research and Human Genetics, 17 (2), 1-4. doi: 10.1017/thg.2023.11 |
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2023 Journal Article Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testingTiller, 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 (2023). Correction: 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), 365-365. doi: 10.1038/s41431-023-01391-z |
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2023 Journal Article Management of cutaneous melanoma in Australia: a narrative reviewBhave, Prachi, Wong, Jessica, McInerney‐Leo, Aideen, Cust, Anne E., Lawn, Craig, Janda, Monika and Mar, Victoria J. (2023). Management of cutaneous melanoma in Australia: a narrative review. Medical Journal of Australia, 218 (9), 426-431. doi: 10.5694/mja2.51910 |
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2023 Journal Article Rare and common variants in GALNT3 may affect bone mass independently of phosphate metabolismHassan, Neelam, Gregson, Celia L., Tang, Haotian, Kamp, Marc van der, Leo, Paul, McInerney‐Leo, Aideen M., Zheng, Jie, Brandi, Maria Luisa, Tang, Jonathan C. Y., Fraser, William, Stone, Michael D., Grundberg, Elin, McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip, Reid, Ian R., Dennison, Elaine M., Wark, John, Brown, Matthew A.., Duncan, Emma L., Tobias, Jonathan H. and Anglo‐Australasian Genetics Consortium (2023). Rare and common variants in GALNT3 may affect bone mass independently of phosphate metabolism. Journal of Bone and Mineral Research, 38 (5), 678-691. doi: 10.1002/jbmr.4795 |
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2022 Journal Article Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanomaPrimiero, Clare A., Finnane, Anna, Yanes, Tatiane, Peach, Betsy, Soyer, H. Peter and McInerney-Leo, Aideen M. (2022). Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma. PLoS One, 17 (12) e0275926, 1-15. doi: 10.1371/journal.pone.0275926 |
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2022 Journal Article Unusual suspects in hereditary melanoma: POT1, POLE, BAP1Maas, Ellie J., Betz-Stablein, Brigid, Aoude, Lauren G., Soyer, H. Peter and McInerney-Leo, Aideen M. (2022). Unusual suspects in hereditary melanoma: POT1, POLE, BAP1. Trends in Genetics, 38 (12), 1204-1207. doi: 10.1016/j.tig.2022.06.007 |
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2022 Journal Article Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanomaPrimiero, Clare A., Baker, Amy M., Wallingford, Courtney K., Maas, Ellie J., Yanes, Tatiane, Fowles, Lindsay, Janda, Monika, Young, Mary-Anne, Nisselle, Amy, Terrill, Bronwyn, Lodge, Jason M., Tiller, Jane M., Lacaze, Paul, Andersen, Hayley, McErlean, Gemma, Turbitt, Erin, Soyer, H. Peter and McInerney-Leo, Aideen M. (2022). Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma. Frontiers in Genetics, 13 919134, 1-12. doi: 10.3389/fgene.2022.919134 |
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2022 Journal Article Measurable outcomes of consumer engagement in health research: A scoping reviewDeBortoli, Emily, Soyer, H. Peter, Milne, David, Dissanayaka, Nadeeka, Gartner, Coral, Holt, Jeanette, Rae, Kym, Robison, Laura, Wallingford, Courtney K. and McInerney-Leo, Aideen M. (2022). Measurable outcomes of consumer engagement in health research: A scoping review. Frontiers in Public Health, 10 994547, 1-10. doi: 10.3389/fpubh.2022.994547 |
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2022 Journal Article Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: a qualitative studyDowling, Grace, Tiller, Jane, McInerney-Leo, Aideen, Belcher, Andrea, Haining, Casey, Barlow-Stewart, Kristine, Boughtwood, Tiffany, Gleeson, Penny, Delatycki, Martin B., Winship, Ingrid, Otlowski, Margaret, Jacobs, Chris, Keogh, Louise and Lacaze, Paul (2022). Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: a qualitative study. European Journal of Human Genetics, 30 (11), 1-7. doi: 10.1038/s41431-022-01150-6 |
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2022 Journal Article Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinismMaas, Ellie J, Wallingford, Courtney K, McGuire, Jessica J, Rutjes, Chantal, Smit, Darren J, Betz-Stablein, Brigid, Sturm, Richard A, Soyer, H Peter and McInerney-Leo, Aideen M (2022). Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism. The Journal of Dermatology, 49 (11), 1183-1187. doi: 10.1111/1346-8138.16528 |
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2022 Journal Article Community input in a genomic health implementation program: perspectives of a community advisory groupVidgen, Miranda E., Cutler, Katrina, Bean, Jessica, Bunker, David, Fowles, Lindsay F., Healy, Louise, Hondow, Gary, Istiko, Satrio Nindyo, McInerney-Leo, Aideen M., Pratt, Gregory, Robins, Deborah, Waddell, Nicola and Evans, Erin (2022). Community input in a genomic health implementation program: perspectives of a community advisory group. Frontiers in Genetics, 13 892475, 1-8. doi: 10.3389/fgene.2022.892475 |
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2022 Journal Article The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’McInerney‐Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Toombs, Maree R., Brown, Matthew A. and Duncan, Emma L. (2022). The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’. Journal of Genetic Counseling, 31 (3), 620-630. doi: 10.1002/jgc4.1529 |
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2022 Journal Article Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trialChang, Anne B., Morgan, Lucy C., Duncan, Emma L., Chatfield, Mark D., Schultz, André, Leo, Paul J., McCallum, Gabrielle B., McInerney-Leo, Aideen M., McPhail, Steven M., Zhao, Yuejen, Kruljac, Catherine, Smith-Vaughan, Heidi C., Morris, Peter S., Marchant, Julie M., Yerkovich, Stephanie T., Cook, Anne L., Wurzel, Danielle, Versteegh, Lesley, O'Farrell, Hannah, McElrea, Margaret S., Fletcher, Sabine, D'Antoine, Heather, Stroil-Salama, Enna, Robinson, Phil J. and Grimwood, Keith (2022). Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trial. BMJ Open Respiratory Research, 9 (1) e001236, e001236. doi: 10.1136/bmjresp-2022-001236 |
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2022 Journal Article Evaluation of a genetics education program for health interpreters: A pilot studyVidgen, Miranda E., Fowles, Lindsay F., Istiko, Satrio Nindyo, Evans, Erin, Cutler, Katrina, Sullivan, Kate, Bean, Jessica, Healy, Louise, Hondow, Gary, McInerney-Leo, Aideen M., Pratt, Gregory, Robins, Deborah, Best, Stephanie, Finlay, Keri, Ramarao-Milne, Priya and Waddell, Nicola (2022). Evaluation of a genetics education program for health interpreters: A pilot study. Frontiers in Genetics, 12 771892, 1-12. doi: 10.3389/fgene.2021.771892 |
