|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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) ARTN djab076, 1379-1385. doi: 10.1093/jnci/djab076 |
|
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 |
|
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 |
|
2021 Journal Article A systematic review on the impact of genetic testing for familial melanoma I: primary and secondary preventative behavioursPrimiero, Clare A., Yanes, Tatiane, Finnane, Anna, Soyer, H. Peter and McInerney-Leo, Aideen M. (2021). A systematic review on the impact of genetic testing for familial melanoma I: primary and secondary preventative behaviours. Dermatology , 237 (5), 1-10. doi: 10.1159/000513919 |
|
2021 Journal Article A systematic review on the impact of genetic testing for familial melanoma II: psychosocial outcomes and attitudesPrimiero, Clare A., Yanes, Tatiane, Finnane, Anna, Soyer, H. Peter and McInerney-Leo, Aideen M. (2021). A systematic review on the impact of genetic testing for familial melanoma II: psychosocial outcomes and attitudes. Dermatology, 237 (5), 1-11. doi: 10.1159/000513576 |
|
2020 Journal Article Multiple endocrine tumors associated with germline MAX mutations: multiple endocrine neoplasia type 5?Seabrook, Amanda J., Harris, Jessica E., Velosa, Sofia B., Kim, Edward, McInerney-Leo, Aideen M., Dwight, Trisha, Hockings, Jason I., Hockings, Nicholas G., Kirk, Judy, Leo, Paul J., Love, Amanda J., Luxford, Catherine, Marshall, Mhairi, Mete, Ozgur, Pennisi, David J., Brown, Matthew A., Gill, Anthony J., Hockings, Gregory I., Clifton-Bligh, Roderick J. and Duncan, Emma L. (2020). Multiple endocrine tumors associated with germline MAX mutations: multiple endocrine neoplasia type 5?. Journal of Clinical Endocrinology and Metabolism, 106 (4), 1163-1182. doi: 10.1210/clinem/dgaa957 |
|
2020 Journal Article Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceMartin, Ella M. M. A., Enriquez, Annabelle, Sparrow, Duncan B., Humphreys, David T., McInerney-Leo, Aideen M., Leo, Paul J., Duncan, Emma L., Iyer, Kavitha R., Greasby, Joelene A., Ip, Eddie, Giannoulatou, Eleni, Sheng, Delicia, Wohler, Elizabeth, Dimartino, Clémantine, Amiel, Jeanne, Capri, Yline, Lehalle, Daphné, Mory, Adi, Wilnai, Yael, Lebenthal, Yael, Gharavi, Ali G., Krzemień, Grażyna G., Miklaszewska, Monika, Steiner, Robert D., Raggio, Cathy, Blank, Robert, Baris Feldman, Hagit, Milo Rasouly, Hila, Sobreira, Nara L. M. ... Chapman, Gavin (2020). Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29 (22), 3662-3678. doi: 10.1093/hmg/ddaa258 |
|
2020 Journal Article CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact riskMcMeniman, E. K., McInerney-Leo, A. M., Peach, E., Lee, K. J., Yanes, T., Jagirdar, K., Stark, M. S., Soyer, H. P., Duffy, D. L. and Sturm, R. A. (2020). CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk. Journal of the European Academy of Dermatology and Venereology, 34 (12) jdv.16627, e797-e798. doi: 10.1111/jdv.16627 |
|
2020 Journal Article Factors influencing cancer genetic somatic mutation test ordering by cancer physicianDemeshko, Anastassia, Pennisi, David J., Narayan, Sushil, Gray, Stacy W., Brown, Matthew A. and McInerney-Leo, Aideen M. (2020). Factors influencing cancer genetic somatic mutation test ordering by cancer physician. Journal of Translational Medicine, 18 (1) 431, 1-7. doi: 10.1186/s12967-020-02610-7 |
|
2020 Journal Article Queensland consumers' awareness and understanding of clinical genetics servicesWallingford, Courtney K., Cutler, Katrina, Istiko, Satrio Nindyo, Fowles, Lindsay F., Lamb, Rachel, Bean, Jessica, Healy, Louise, Hondow, Gary, Pratt, Gregory, Vidgen, Miranda E., Waddell, Nicola, Evans, Erin, Bunker, David and McInerney-Leo, Aideen M. (2020). Queensland consumers' awareness and understanding of clinical genetics services. Frontiers in Genetics, 11 537743, 537743. doi: 10.3389/fgene.2020.537743 |
|
2020 Journal Article Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variantsRayner, Jenna E., Duffy, David L., Smit, Darren J., Jagirdar, Kasturee, Lee, Katie J., De’Ambrosis, Brian, Smithers, B. Mark, McMeniman, Erin K., McInerney-Leo, Aideen M., Schaider, Helmut, Stark, Mitchell S., Soyer, H. Peter and Sturm, Richard A. (2020). Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants. PLoS ONE, 15 (9) e0238529, e0238529. doi: 10.1371/journal.pone.0238529 |
|
2020 Journal Article The emerging field of polygenic risk scores and perspective for use in clinical careYanes, Tatiane, McInerney-Leo, Aideen M., Law, Matthew and Cummings, Shelly (2020). The emerging field of polygenic risk scores and perspective for use in clinical care. Human Molecular Genetics, 29 (R2), R165-R176. doi: 10.1093/hmg/ddaa136 |
|
2020 Journal Article Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative studyMcInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A. and Duncan, Emma (2020). Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative study. Frontiers in Genetics, 11 461, 461. doi: 10.3389/fgene.2020.00461 |
|
2020 Journal Article Compound heterozygous mutation in FBN1 in a large family with Marfan syndromeMcInerney-Leo, Aideen M., West, Jennifer A., Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm J. and Duncan, Emma L. (2020). Compound heterozygous mutation in FBN1 in a large family with Marfan syndrome. Molecular Genetics and Genomic Medicine, 8 (3) e1116, e1116. doi: 10.1002/mgg3.1116 |
