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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 Conference Publication Australian dermatologists' attitudes and confidence in utilising genetic testing and preferences for future training modalities: A cross-sectional surveyPrimiero, 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 |
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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 |
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2022 Journal Article The future of precision prevention for advanced melanomaLee, Katie J., Betz-Stablein, Brigid, Stark, Mitchell S., Janda, Monika, McInerney-Leo, Aideen M., Caffery, Liam J., Gillespie, Nicole, Yanes, Tatiane and Soyer, H. Peter (2022). The future of precision prevention for advanced melanoma. Frontiers in Medicine, 8 818096, 818096. doi: 10.3389/fmed.2021.818096 |
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2022 Journal Article Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: a systematic reviewWallingford, Courtney K., Kovilpillai, Hannah, Jacobs, Chris, Turbitt, Erin, Primiero, Clare A., Young, Mary-Anne, Brockman, Deanna G., Soyer, H. Peter, McInerney-Leo, Aideen M. and Yanes, Tatiane (2022). Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: a systematic review. Genetics in Medicine, 25 (1), 1-11. doi: 10.1016/j.gim.2022.09.008 |
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2021 Journal Article Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding ErbB’s role in oncogenesisMcInerney-Leo, Aideen M., Chew, Hui Yi, Inglis, Po-Ling, Leo, Paul J., Joseph, Shannon R., Cooper, Caroline L., Okano, Satomi, Hassall, Tim, Anderson, Lisa, Bowman, Rayleen V., Gattas, Michael, Harris, Jessica E., Marshall, Mhairi S., Shaw, Janet G., Wheeler, Lawrie, Yang, Ian A., Brown, Matthew A., Fong, Kwun M., Simpson, Fiona and Duncan, Emma L. (2021). Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding ErbB’s role in oncogenesis. Human Molecular Genetics, 30 (24), 2393-2401. doi: 10.1093/hmg/ddab172 |
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2021 Journal Article The ethical protection of genetic information: procedure analysis for psychologistsAllen, Kelly-Ann, McInerney-Leo, Aideen M, Gamble, Nicholas, Wurf, Gerald and Boyle, Christopher (2021). The ethical protection of genetic information: procedure analysis for psychologists. Clinical Psychologist, 26 (1), 1-10. doi: 10.1080/13284207.2021.1985376 |
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2021 Journal Article A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratoriumTiller, Jane M., Keogh, Louise A., McInerney-Leo, Aideen M., Belcher, Andrea, Barlow-Stewart, Kristine, Boughtwood, Tiffany, Gleeson, Penny, Dowling, Grace, Prince, Anya, Bombard, Yvonne, Joly, Yann, Delatycki, Martin, Winship, Ingrid M., Otlowski, Margaret and Lacaze, Paul (2021). A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium. Journal of Medical Genetics, 1-10. doi: 10.1136/jmedgenet-2021-107989 |
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2021 Journal Article Australian human research ethics committee members’ confidence in reviewing genomic research applicationsPysar, Ryan, Wallingford, Courtney K., Boyle, Jackie, Campbell, Scott B., Eckstein, Lisa, McWhirter, Rebekah, Terrill, Bronwyn, Jacobs, Chris and McInerney-Leo, Aideen M. (2021). Australian human research ethics committee members’ confidence in reviewing genomic research applications. European Journal of Human Genetics, 29 (12), 1-8. doi: 10.1038/s41431-021-00951-5 |
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2021 Journal Article Anatomic distribution of cherry angiomas in the general populationBetz-Stablein, Brigid, Koh, Uyen, Edwards, Harrison A., McInerney-Leo, Aideen, Janda, Monika and Soyer, H. Peter (2021). Anatomic distribution of cherry angiomas in the general population. Dermatology, 238 (1), 1-9. doi: 10.1159/000517172 |
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2021 Journal Article A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the youngGraff, Sarah M., Johnson, Stephanie R., Leo, Paul J., Dadi, Prasanna K., Dickerson, Matthew T., Nakhe, Arya Y., McInerney-Leo, Aideen M., Marshall, Mhairi, Zaborska, Karolina E., Schaub, Charles M., Brown, Matthew A., Jacobson, David A. and Duncan, Emma L. (2021). A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young. JCI Insight, 6 (13) 138057, 1-13. doi: 10.1172/jci.insight.138057 |
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2021 Journal Article Study protocol: the Australian genetics and life insurance moratorium-monitoring the effectiveness and response (A-GLIMMER) projectTiller, Jane, McInerney-Leo, Aideen, Belcher, Andrea, Boughtwood, Tiffany, Gleeson, Penny, Delatycki, Martin, Barlow-Stewart, Kristine, Winship, Ingrid, Otlowski, Margaret, Keogh, Louise and Lacaze, Paul (2021). Study protocol: the Australian genetics and life insurance moratorium-monitoring the effectiveness and response (A-GLIMMER) project. BMC Medical Ethics, 22 (1) 63, 1-14. doi: 10.1186/s12910-021-00634-2 |
