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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 Other Outputs A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratoriumTiller, Jane, Keogh, Louise, McInerney-Leo, Aideen, Belcher, Andrea, Barlow-Stewart, Kristine, Boughtwood, Tiffany, Gleeson, Penny, Dowling, Grace, Prince, Anya E.R., Bombard, Yvonne, Joly, Yann, Delatycki, Martin B, Winship, Ingrid, Otlowski, Margaret and Lacaze, Paul (2021). A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium. doi: 10.1101/2021.05.25.21257683 |
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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 |
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2021 Journal Article A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: first reported caseNärhi, Anu, Fernandes, Andrea, Toiviainen‐Salo, Sanna, Harris, Jessica, McInerney‐Leo, Aideen, Lazarus, Syndia, Avela, Kristiina and Duncan, Emma L. (2021). A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: first reported case. American Journal of Medical Genetics Part A, 185 (8), 2477-2481. doi: 10.1002/ajmg.a.62257 |
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2021 Journal Article Genomic risk score for melanoma in a prospective study of older individualsBakshi, Andrew, Yan, Mabel, Riaz, Moeen, Polekhina, Galina, Orchard, Suzanne G., Tiller, Jane, Wolfe, Rory, Joshi, Amit, Cao, Yin, McInerney-Leo, Aideen M., Yanes, Tatiane, Janda, Monika, Soyer, H. Peter, Cust, Anne E., Law, Matthew H., Gibbs, Peter, McLean, Catriona, Chan, Andrew T., McNeil, John J., Mar, Victoria J. and Lacaze, Paul (2021). Genomic risk score for melanoma in a prospective study of older individuals. Journal of the National Cancer Institute, 113 (10) djab076, 1379-1385. doi: 10.1093/jnci/djab076 |
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2021 Journal Article Communicating polygenic risk scores in the familial breast cancer clinicDas Gupta, Kuheli, Gregory, Gillian, Meiser, Bettina, Kaur, Rajneesh, Scheepers-Joynt, Maatje, McInerny, Simone, Taylor, Shelby, Barlow-Stewart, Kristine, Antill, Yoland, Salmon, Lucinda, Smyth, Courtney, McInerney-Leo, Aideen, Young, Mary-Anne, James, Paul A. and Yanes, Tatiane (2021). Communicating polygenic risk scores in the familial breast cancer clinic. Patient Education and Counseling, 104 (10), 2512-2521. doi: 10.1016/j.pec.2021.02.046 |
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2021 Journal Article Massively parallel sequencing for rare genetic disorders: potential and pitfallsMcInerney-Leo, Aideen M. and Duncan, Emma L. (2021). Massively parallel sequencing for rare genetic disorders: potential and pitfalls. Frontiers in Endocrinology, 11 628946, 628946. doi: 10.3389/fendo.2020.628946 |
