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2024

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 (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

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

2024

Journal Article

Genetic testing for familial melanoma

Primiero, 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

Genetic testing for familial melanoma

2024

Journal Article

The ATM Ser49Cys variant effects ATM function as a regulator of oncogene-induced senescence

Atkinson, 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

The ATM Ser49Cys variant effects ATM function as a regulator of oncogene-induced senescence

2023

Journal Article

Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional survey

Yanes, 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

Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional survey

2023

Journal Article

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia – CORRIGENDUM

McInerney-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

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia – CORRIGENDUM

2023

Journal Article

MITF E318K: A rare homozygous case with multiple primary melanoma

Wallingford, 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

MITF E318K: A rare homozygous case with multiple primary melanoma

2023

Journal Article

Financial advisers’ and key informants’ perspectives on the Australian industry-led Moratorium on Genetic Tests in Life Insurance

Haining, 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

Financial advisers’ and key informants’ perspectives on the Australian industry-led Moratorium on Genetic Tests in Life Insurance

2023

Journal Article

Development and evaluation of a novel educational program for providers on the use of polygenic risk scores

Yanes, 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

Development and evaluation of a novel educational program for providers on the use of polygenic risk scores

2023

Journal Article

GOLM1: expanding our understanding of melanoma susceptibility

Maas, 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

GOLM1: expanding our understanding of melanoma susceptibility

2023

Journal Article

The MC1R r allele does not increase melanoma risk in MITF E318K carriers

Wallingford, 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

The MC1R r allele does not increase melanoma risk in MITF E318K carriers

2023

Journal Article

Human Genetics Society of Australasia position statement: genetic testing and personal insurance products in Australia

McInerney-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

Human Genetics Society of Australasia position statement: genetic testing and personal insurance products in Australia

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) PII S1832427423000154, 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

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