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2024

Journal Article

Narrative therapy and family therapy in genetic counseling: a scoping review

Dane, Aimee, Berkman, Jennifer, DeBortoli, Emily, Wallingford, Courtney K., Yanes, Tatiane and McInerney‐Leo, Aideen (2024). Narrative therapy and family therapy in genetic counseling: a scoping review. Journal of Genetic Counseling. doi: 10.1002/jgc4.1938

Narrative therapy and family therapy in genetic counseling: a scoping review

2024

Journal Article

POT1 and multiple primary melanomas: the dermatological phenotype

Maas, Ellie J., DeBortoli, Emily, Nathan, Vaishnavi, Freeman, Ned P., Mothershaw, Adam, Smit, Darren J., Betz-Stablein, Brigid, Aoude, Lauren G., Stark, Mitchell S., Sturm, Richard A., Soyer, H. Peter and McInerney-Leo, Aideen M. (2024). POT1 and multiple primary melanomas: the dermatological phenotype. Journal of Medical Genetics, 61 (9) jmg-2023-109637, 1-4. doi: 10.1136/jmg-2023-109637

POT1 and multiple primary melanomas: the dermatological phenotype

2024

Journal Article

“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance

Muller, Cassandra, Gallacher, Lyndon, Keogh, Louise, McInerney-Leo, Aideen, Boughtwood, Tiffany, Gleeson, Penny, Barlow-Stewart, Kristine, Delatycki, Martin B., Winship, Ingrid, Nowak, Kristen J., Otlowski, Margaret, Lacaze, Paul and Tiller, Jane (2024). “Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance. European Journal of Human Genetics, 32 (7), 827-836. doi: 10.1038/s41431-024-01602-1

“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance

2024

Journal Article

Future implications of polygenic risk scores for life insurance underwriting

Yanes, Tatiane, Tiller, Jane, Haining, Casey M., Wallingford, Courtney, Otlowski, Margaret, Keogh, Louise, McInerney-Leo, Aideen and Lacaze, Paul (2024). Future implications of polygenic risk scores for life insurance underwriting. npj Genomic Medicine, 9 (1) 25. doi: 10.1038/s41525-024-00407-x

Future implications of polygenic risk scores for life insurance underwriting

2024

Journal Article

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children

Vears, Danya F., McLean, Alison, La Spina, Chloe and McInerney-Leo, Aideen (2024). Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children. Twin Research and Human Genetics, 27 (2), 1-8. doi: 10.1017/thg.2024.9

Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children

2024

Journal Article

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

Kriukelis, Rebecca, Gabbett, Michael T., Beswick, Rachael, McInerney-Leo, Aideen M., Driscoll, Carlie and Liddle, Karen (2024). The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates. European Journal of Human Genetics. doi: 10.1038/s41431-024-01584-0

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

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

Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance

Yanes, Tatiane, Blencoe, Marisa, Howard, Antonia, Tiller, Jane, Wallingford, Courtney, Otlowski, Margaret, Keogh, Louise, Lacaze, Paul and McInerney‐Leo, Aideen (2024). Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance. American Journal of Medical Genetics Part A, 194 (6) e63565, e63565. doi: 10.1002/ajmg.a.63565

Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance

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

2024

Conference Publication

Australia's largest primary ciliary dyskinesia cohort: exploring the genetic background

Maas, 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.

Australia's largest primary ciliary dyskinesia cohort: exploring the genetic background

2024

Conference Publication

Evaluating a protocol for communicating melanoma personalised risk scores: a pilot study

Wallingford, 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.

Evaluating a protocol for communicating melanoma personalised risk scores: a pilot study

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, 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