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2024 Journal Article Human Genetics Society of Australasia position statement: predictive and presymptomatic genetic testing in adults and childrenVears, Danya F., McLean, Alison, La Spina, Chloe, McInerney-Leo, Aideen and on behalf of the Education, Ethics and Social Issues Committee of the Human Genetics Society of Australasia (2024). Human Genetics Society of Australasia position statement: predictive and presymptomatic genetic testing in adults and children. Twin Research and Human Genetics, 27 (2), 120-127. doi: 10.1017/thg.2024.9 |
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2024 Journal Article 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 (2024). 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), 286-294. doi: 10.1038/s41431-023-01373-1 |
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2024 Journal Article Genetic testing for familial melanomaPrimiero, Clare A., Maas, Ellie J., Wallingford, Courtney K., Soyer, H. Peter and McInerney-Leo, Aideen M. (2024). Genetic testing for familial melanoma. Italian Journal of Dermatology and Venereology, 159 (1), 34-42. doi: 10.23736/s2784-8671.23.07761-7 |
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2024 Journal Article The ATM Ser49Cys variant effects ATM function as a regulator of oncogene-induced senescenceAtkinson, Caroline, McInerney-Leo, Aideen, Proctor, Martina, Lanagan, Catherine, Stevenson, Alexander, Dehkhoda, Farhad, Caole, Mary, Maas, Ellie, Ainger, Stephen, Pritchard, Antonia, Johansson, Peter, Leo, Paul, Hayward, Nicholas, Sturm, Richard, Duncan, Emma and Gabrielli, Brian (2024). The ATM Ser49Cys variant effects ATM function as a regulator of oncogene-induced senescence. International Journal of Molecular Sciences, 25 (3) 1664, 1-12. doi: 10.3390/ijms25031664 |
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2024 Conference Publication Evaluating a protocol for communicating melanoma personalised risk scores: a pilot studyWallingford, 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. |
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2024 Conference Publication Australia's largest primary ciliary dyskinesia cohort: exploring the genetic backgroundMaas, 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. |
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2023 Journal Article Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional surveyYanes, Tatiane, Nathan, Vaishnavi, Wallingford, Courtney, Faragher, Rhonda, Nankervis, Karen, Jacobs, Chris, Vassos, Maria, Boyle, Fran, Carroll, Annemaree, Smith, Simon and McInerney‐Leo, Aideen (2023). Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional survey. Journal of Genetic Counseling, 33 (4), 1-12. doi: 10.1002/jgc4.1788 |
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2023 Journal Article Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia – CORRIGENDUMMcInerney-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 – CORRIGENDUM. Twin Research and Human Genetics, 27 (4-5), 1-1. doi: 10.1017/thg.2023.36 |
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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 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 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 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 Conference Publication Models of communication for polygenic scores and associated behavioural and psychological outcomes: a systematic reviewWallingford, 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. |
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2023 Conference Publication Unusual suspects in hereditary melanoma: POT1, POLE and BAP1Maas, 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. |
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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 |
