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2023

Journal Article

Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions

Vears, 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), 1-7. doi: 10.1017/thg.2023.15

Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions

2023

Journal Article

Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing

Tiller, 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

Correction: Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing

2023

Journal Article

Community concerns about genetic discrimination in life insurance persist in Australia: a survey of consumers offered genetic testing

Tiller, 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). 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), 1-9. doi: 10.1038/s41431-023-01373-1

Community concerns about genetic discrimination in life insurance persist in Australia: a survey of consumers offered genetic testing

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

2023

Journal Article

Management of cutaneous melanoma in Australia: a narrative review

Bhave, 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

Management of cutaneous melanoma in Australia: a narrative review

2023

Journal Article

Rare and common variants in GALNT3 may affect bone mass independently of phosphate metabolism

Hassan, 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

Rare and common variants in GALNT3 may affect bone mass independently of phosphate metabolism

2022

Journal Article

Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

Primiero, 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

Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

2022

Journal Article

Unusual suspects in hereditary melanoma: POT1, POLE, BAP1

Maas, 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

Unusual suspects in hereditary melanoma: POT1, POLE, BAP1

2022

Journal Article

Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma

Primiero, 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

Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma

2022

Journal Article

Measurable outcomes of consumer engagement in health research: A scoping review

DeBortoli, 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

Measurable outcomes of consumer engagement in health research: A scoping review

2022

Journal Article

Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: a qualitative study

Dowling, 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

Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: a qualitative study

2022

Journal Article

Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism

Maas, 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

Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism

2022

Journal Article

Community input in a genomic health implementation program: perspectives of a community advisory group

Vidgen, 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

Community input in a genomic health implementation program: perspectives of a community advisory group

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

The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’

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 trial

Chang, 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

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

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

2022

Journal Article

Evaluation of a genetics education program for health interpreters: A pilot study

Vidgen, 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

Evaluation of a genetics education program for health interpreters: A pilot study

2022

Journal Article

The future of precision prevention for advanced melanoma

Lee, 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

The future of precision prevention for advanced melanoma

2022

Journal Article

Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: a systematic review

Wallingford, 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

Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: a systematic review