The University of Queensland

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

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 jmg-2023-109637, 1-4. doi: 10.1136/jmg-2023-109637

“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. doi: 10.1038/s41431-024-01602-1

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

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

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

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

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

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

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

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, 1-12. doi: 10.1002/jgc4.1788

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

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

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

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

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

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

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 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding ErbB’s role in oncogenesis

McInerney-Leo, Aideen M., Chew, Hui Yi, Inglis, Po-Ling, Leo, Paul J., Joseph, Shannon R., Cooper, Caroline L., Okano, Satomi, Hassall, Tim, Anderson, Lisa, Bowman, Rayleen V., Gattas, Michael, Harris, Jessica E., Marshall, Mhairi S., Shaw, Janet G., Wheeler, Lawrie, Yang, Ian A., Brown, Matthew A., Fong, Kwun M., Simpson, Fiona and Duncan, Emma L. (2021). Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding ErbB’s role in oncogenesis. Human Molecular Genetics, 30 (24), 2393-2401. doi: 10.1093/hmg/ddab172

The ethical protection of genetic information: procedure analysis for psychologists

Allen, Kelly-Ann, McInerney-Leo, Aideen M, Gamble, Nicholas, Wurf, Gerald and Boyle, Christopher (2021). The ethical protection of genetic information: procedure analysis for psychologists. Clinical Psychologist, 26 (1), 1-10. doi: 10.1080/13284207.2021.1985376

A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium

Tiller, 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

Australian human research ethics committee members’ confidence in reviewing genomic research applications

Pysar, 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

Anatomic distribution of cherry angiomas in the general population

Betz-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

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

Graff, 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

Study protocol: the Australian genetics and life insurance moratorium-monitoring the effectiveness and response (A-GLIMMER) project

Tiller, 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

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: first reported case

Närhi, 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

Genomic risk score for melanoma in a prospective study of older individuals

Bakshi, 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

Communicating polygenic risk scores in the familial breast cancer clinic

Das 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

Massively parallel sequencing for rare genetic disorders: potential and pitfalls

McInerney-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

A systematic review on the impact of genetic testing for familial melanoma I: primary and secondary preventative behaviours

Primiero, 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

A systematic review on the impact of genetic testing for familial melanoma II: psychosocial outcomes and attitudes

Primiero, 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

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

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Martin, 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

CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk

McMeniman, 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

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

Demeshko, 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

Queensland consumers' awareness and understanding of clinical genetics services

Wallingford, 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

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants

Rayner, 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

The emerging field of polygenic risk scores and perspective for use in clinical care

Yanes, 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

Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative study

McInerney-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

Compound heterozygous mutation in FBN1 in a large family with Marfan syndrome

McInerney-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

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

McInerney-Leo, Aideen M., West, Jennifer A., McGill, Jim J., Brown, Matthew A., Duncan, Emma L. and West, Malcolm J. (2020). Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging. American Journal of Medical Genetics, Part A, 182 (4) ajmg.a.61474, 829-830. doi: 10.1002/ajmg.a.61474

Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

Withers, Chelsea M., Fleming, Jane, Wallingford, Courtney K., Gabbett, Michael T., Peterson, Madelyn, Humphreys, Linda and McInerney-Leo, Aideen (2020). Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”. American Journal of Medical Genetics, Part A, 185 (1) ajmg.a.61920, 105-111. doi: 10.1002/ajmg.a.61920

The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls

McMeniman, E. K., Duffy, D. L., Jagirdar, K., Lee, K. J., Peach, E., McInerney-Leo, A. M., De'Ambrosis, B., Rayner, J. E., Smithers, B. M., Soyer, H. P. and Sturm, R. A. (2019). The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls. British Journal of Dermatology, 183 (2) bjd.18777, 357-366. doi: 10.1111/bjd.18777

Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial

Primiero, Clare Amy, McInerney-Leo, Aideen M., Betz-Stablein, Brigid, Whiteman, David C., Gordon, Louisa, Caffery, Liam, Aitken, Joanne F., Eakin, Elizabeth, Osborne, Sonya, Gray, Len, Smithers, B. Mark, Janda, Monika, Soyer, H. Peter and Finnane, Anna (2019). Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial. BMJ Open, 9 (11) e032969, e032969. doi: 10.1136/bmjopen-2019-032969

A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis

Gregson, Celia L., Bergen, Dylan J. M., Leo, Paul, Sessions, Richard B., Wheeler, Lawrie, Hartley, April, Youlten, Scott, Croucher, Peter I., McInerney-Leo, Aideen M., Fraser, William, Tang, Jonathan C.Y., Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A., Hammond, Chrissy, Kemp, John P., Tobias, Jon H. and Duncan, Emma L. (2019). A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis. Journal of Bone and Mineral Research, 35 (1) jbmr.3875, 92-105. doi: 10.1002/jbmr.3875

The personal touch: does the communication method affect response to melanoma genetic risk?

McInerney-Leo, A. M. and Finnane, A. (2019). The personal touch: does the communication method affect response to melanoma genetic risk?. British Journal of Dermatology, 180 (6), 1288-1289. doi: 10.1111/bjd.17884

Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort

Johnson, Stephanie R., Ellis, Jonathan J., Leo, Paul, Anderson, Lisa K., Ganti, Uma, Harris, Jessica E., Curran, Jacqueline A., McInerney-Leo, Aideen, Paramalingam, Nirubasini, Song, Xiaoxia, Conwell, Louise S., Harris, Mark, Jones, Timothy W., Brown, Matthew A., Davis, Elizabeth A. and Duncan, Emma L. (2019). Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort. Pediatric Diabetes, 20 (1), 57-64. doi: 10.1111/pedi.12766

Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing

Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand ... Metherell, Louise A. (2018). Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3 (1), 201-221. doi: 10.1210/js.2018-00130

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

Johnson, S. R., Leo, P. J., McInerney-Leo, A. M., Anderson, L. K., Marshall, M., McGown, I., Newell, F., Brown, M. A., Conwell, L. S., Harris, M. and Duncan, E. L. (2018). Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. Pediatric Diabetes, 19 (4), 656-662. doi: 10.1111/pedi.12638

Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype

Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, Mcinerney-Leo, Aideen M, Wheeler, Patricia G, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, Maryann, Eyre, David, Schwarze, Ulrike and Byers, Peter H (2018). Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype. Journal of Bone and Mineral Research, 33 (7), 1260-1271. doi: 10.1002/jbmr.3424

Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

McInerney-Leo, A. M., Wheeler, L., Sturm, R. A., Tan, J. M., Harris, J. E., Anderson, L., Jagirdar, K., Brown, M. A., Leo, P. J., Soyer, H. P. and Duncan, E. L. (2018). Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. British Journal of Dermatology, 178 (4), e263-e264. doi: 10.1111/bjd.16275

NAD deficiency, congenital malformations, and niacin supplementation

Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella M. M. A., Wang, Roni, Moreau, Julie, Lim, Chai K., Szot, Justin O., Ip, Eddie, Hughes, James N., Sugimoto, Kotaro, Humphreys, David T., McInerney-Leo, Aideen M., Leo, Paul J., Maghzal, Ghassan J., Halliday, Jake, Smith, Janine, Colley, Alison, Mark, Paul R., Collins, Felicity, Sillence, David O., Winlaw, David S., Ho, Joshua W. K., Guillemin, Gilles J., Brown, Matthew A., Kikuchi, Kazu, Thomas, Paul Q., Stocker, Roland, Giannoulatou, Eleni ... Dunwoodie, Sally L. (2017). NAD deficiency, congenital malformations, and niacin supplementation. New England Journal of Medicine, 377 (6), 544-552. doi: 10.1056/NEJMoa1616361

Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause

Hunt, Lauren P., McInerney-Leo, A.M., Sinnott, S., Sutton, B., Cincotta, R., Duncombe, G., Chua, J. and Peterson, M. (2017). Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause. Journal of Assisted Reproduction and Genetics, 34 (10), 1367-1375. doi: 10.1007/s10815-017-0996-1

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum

Mcinerney-Leo, Aideen M., Wheeler, Lawrie, Marshall, Mhairi S., Anderson, Lisa K., Zankl, Andreas, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2017). Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum. American Journal of Medical Genetics, 173 (6), 1698-1704. doi: 10.1002/ajmg.a.38215

Factors associated with parental adaptation to children with an undiagnosed medical condition

Yanes, Tatiane, Humphreys, Linda, McInerney-Leo, Aideen and Biesecker, Barbara (2016). Factors associated with parental adaptation to children with an undiagnosed medical condition. Journal of Genetic Counseling, 26 (4), 1-12. doi: 10.1007/s10897-016-0060-9

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia

Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Ades, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C. M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O. M., Brown, Matthew A., Duncan, Emma L., Markie, David M. and Robertson, Stephen P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99 (2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Fryns syndrome associated with recessive mutations in PIGN in two separate families

Mcinerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Anderson, Lisa K., Wheeler, Lawrie, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2016). Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37 (7), 695-702. doi: 10.1002/humu.22994

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

Cortes, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondon Galeano, Maria C., Leo, Paul J., Harris, Jessica E., Anderson, Lisa K., Keith, Patricia A., Brown, Matthew A., Ramsing, Mette, Duncan, Emma L., Zankl, Andreas and Wicking, Carol (2016). Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Scientific Reports, 6 (1) 24083, 24083. doi: 10.1038/srep24083

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

McInerney-Leo, Aideen M., Goff, Carine Le, Leo, Paul J., Kenna, Tony J., Keith, Patricia, Harris, Jessica E., Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matthew A., Zankl, Andreas, Duncan, Emma L. and Cormier-Daire, Valerie (2016). Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53 (7), 457-464. doi: 10.1136/jmedgenet-2015-103647

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

McInerney-Leo, Aideen, Sparrow, Duncan B., Harris, Jessica, Gardiner, Brooke, Marshall, Mhairi, O'Reilly, Victoria C., Shi, Hongjun, Brown, Matthew A., Leo, Paul, Zankl, Andreas, Dunwoodie, Sally L. and Duncan, Emma (2015). Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24 (5), 1234-1242. doi: 10.1093/hmg/ddu534

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Geogette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Osann, Kathryn, Simon, Mariella, Wallace, Douglas, Smith, Charles, McInerney-Leo, Aideen M and Kimonis, Virginia (2015). Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia. Journal of Genetic Counseling, 24 (5), 842-850. doi: 10.1007/s10897-015-9819-7

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

McInerney-Leo, Aideen, Harris, Jessica E., Leo, Paul, Marshall, Mhairi, Gardiner, Brooke, Kinning, Esther, Leong, Huey Yin, McKenzie, Fiona, Ong, PeiTee, Vodopiutz, Julia, Wicking, Carol A., Brown, Matthew A., Zanki, Andreas and Duncan, Emma (2015). Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88 (6), 550-557. doi: 10.1111/cge.12550

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

McInerney-Leo, A. M., Duncan, E. L., Leo, P. J., Gardiner, B., Bradbury, L. A., Harris, J. E., Clark, G. R., Brown, M. A. and Zankl, A. (2014). COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?. Clinical Genetics, 88 (1), 49-55. doi: 10.1111/cge.12440

Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease

Scuffham, Tracey M., McInerney-Leo, Aideen, Ng, Shu-Kay and Mellick, George (2014). Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease. Journal of Community Genetics, 5 (2), 167-177. doi: 10.1007/s12687-013-0168-7

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

Lazarus, Syndia, McInerney-Leo, Aideen M., McKenzie, Fiona A., Baynam, Gareth, Broley, Stephanie, Cavan, Barbra V., Munns, Craig F., Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien A., Pryce, Karena, Brown, Matthew A., Zankl, Andreas, Thomas, Gethin and Duncan, Emma L. (2014). The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15 (107) 107, 1-6. doi: 10.1186/1471-2474-15-107

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Benn, Diana E., McFarlane, Janelle, Robinson, Bruce G., Brown, Matthew A., Leo, Paul J., Clifton-Bligh, Roderick J. and Duncan, Emma L. (2014). Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 80 (1), 25-33. doi: 10.1111/cen.12331

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Coucke, Paul J., Van Laer, Lut, Loeys, Bart L., Summers, Kim M., Symoens, Sofie, West, Jennifer A., West, Malcolm J., Wordsworth, B. Paul, Zankl, Andreas, Leo, Paul J., Brown, Matthew A. and Duncan, Emma L. (2013). Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. BoneKEy Reports, 2 (456), 1-9. doi: 10.1038/bonekey.2013.190

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J. ... Mitchison, Hannah M. (2013). Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93 (5), 932-944. doi: 10.1016/j.ajhg.2013.10.003

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschke, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stephane, Szabo, Attila J., Tory, Kalman, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei ... Hildebrandt, Friedhelm (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American Journal of Human Genetics, 93 (5), 915-925. doi: 10.1016/j.ajhg.2013.09.012

Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60

McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scrambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol and UK10K Consortium (2013). Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60. American Journal of Human Genetics, 93 (3), 515-523. doi: 10.1016/j.ajhg.2013.06.022

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Sparrow, Duncan B., McInerney-Leo, Aideen, Gucev, Zoran S., Gardiner, Brooke, Marshall, Mhairi, Leo, Paul J., Chapman, Deborah L., Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew A., Duncan, Emma L. and Dunwoodie, Sally L. (2013). Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22 (8), 1625-1631. doi: 10.1093/hmg/ddt012

Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia

Hunt, Lauren, Peterson, Madelyn, Sinnott, Stephen, Sutton, Bridget, Cincotta, Robert, Duncombe, Gregory, Chua, Jackie and McInerney-Leo, Aideen (2012). Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia. Prenatal Diagnosis, 32 (11), 1049-1052. doi: 10.1002/pd.3953

Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation

Johnson, Janel, Paisan-Ruiz, Coro, Lopez, Grisel, Crews, Cynthia, Britton, Angela, Malkani, Roniel, Evans, E. Whitney, McInerney-Leo, Aideen, Jain, Shushant, Nussbaum, Robert L., Foote, Kelly D., Mandel, Ronald J., Crawley, Anthony, Reimsnider, Sharon, Fernandez, Hubert H., Okun, Michael S., Gwinn-Hardy, Katrina and Singleton, Andrew B. (2007). Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutation. Neurodegenerative Diseases, 4 (5), 386-391. doi: 10.1159/000105160

BRCA1/2 testing in hereditary breast and ovarian cancer families III: risk perception and screening

McInerney-Leo, Aideen, Hadley, Donald, Kase, Ronald G., Giambarresi, Therese R., Struewing, Jeffery P. and Biesecker, Barbara Bowles (2006). BRCA1/2 testing in hereditary breast and ovarian cancer families III: risk perception and screening. American Journal of Medical Genetics Part A, 140A (20), 2198-2206. doi: 10.1002/ajmg.a.31432

Truth-telling and Turner syndrome: the importance of diagnostic disclosure

Sutton, Erica J., Young, Jessica, McInerney-Leo, Aideen, Bondy, Carolyn A., Gollust, Sarah E. and Biesecker, Barbara B. (2006). Truth-telling and Turner syndrome: the importance of diagnostic disclosure. Journal of Pediatrics, 148 (1), 102-107. doi: 10.1016/j.jpeds.2005.08.022

Turner syndrome: four challenges across the lifespan

Sutton, Erica J., McInerney-Leo, Aideen, Bondy, Carolyn A., Gollust, Sarah E., King, Donnice and Biesecker, Barbara (2005). Turner syndrome: four challenges across the lifespan. American Journal of Medical Genetics Part A, 139A (2), 57-66. doi: 10.1002/ajmg.a.30911

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

Simon-Sanchez, Javier, Hanson, Melissa, Singleton, Amanda, Hernandez, Dena, McInerney, Aideen, Nussbaum, Robert, Werner, John, Gallardo, Marisol, Weiser, Roberto, Gwinn-Hardy, Katrina, Singleton, Andrew B. and Clarimon, Jordi (2005). Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neuroscience Letters, 382 (1-2), 191-194. doi: 10.1016/j.neulet.2005.03.015

Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

Meyer-Lindenberg, Andreas, Kohn, Philip D., Kolachana, Bhaskar, Kippenhan, Shane, McInerney-Leo, Aideen, Nussbaum, Robert, Weinberger, Daniel R. and Berman, Karen Faith (2005). Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype. Nature Neuroscience, 8 (5), 594-596. doi: 10.1038/nn1438

BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships

McInerney‐Leo, Aideen, Biesecker, Barbara Bowles, Hadley, Donald W., Kase, Ronald G., Giambarresi, Therese R., Johnson, Elizabeth, Lerman, Caryn and Struewing, Jeffery P. (2005). BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships. American Journal of Medical Genetics Part A, 133A (2), 165-169. doi: 10.1002/ajmg.a.30566

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

Hernandez, Dena G., Paisan-Ruiz, Coro, McInerney-Leo, Aideen, Jain, Shushant, Meyer-Lindenberg, Andreas, Evans, E. Whitney, Berman, Karen F., Johnson, Janel, Auburger, Georg, Schaffer, Alejandro A., Lopez, Grisel J., Nussbaum, Robert L. and Singleton, Andrew B. (2005). Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals of Neurology, 57 (3), 453-456. doi: 10.1002/ana.20401

Genetic testing in Parkinson's disease

McInerney-Leo, Aideen, Hadley, Donald W., Gwinn-Hardy, Katrina and Hardy, John (2005). Genetic testing in Parkinson's disease. Movement Disorders, 20 (1), 1-10. doi: 10.1002/mds.20316

Genetic testing in Parkinson's disease

McInerney-Leo, Aideen (2005). Genetic testing in Parkinson's disease. Movement Disorders, 20 (7), 908-909. doi: 10.1002/mds.20509

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

Rogaeva, E., Johnson, J., Lang, A. E., Gulick, C., Gwinn-Hardy, K., Kawarai, T., Sato, C., Morgan, A., Werner, J., Nussbaum, R., Petit, A., Okun, M. S., McInerney, A., Mandel, R., Groen, J. L., Fernandez, H. H., Postuma, R., Foote, K. D., Salehi-Rad, S., Liang, Y., Reimsnider, S., Tandon, A., Hardy, J., St George-Hyslop, P. and Singleton, A. B. (2004). Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Archives of Neurology, 61 (12), 1898-1904. doi: 10.1001/archneur.61.12.1898

Parkinsonism among Gaucher disease carriers

Goker-Alpan, O., Schiffmann, R., LaMarca, M.E., Nussbaum, R.L., McInerney-Leo, A. and Sidransky, E. (2004). Parkinsonism among Gaucher disease carriers. Journal of Medical Genetics, 41 (12), 937-940. doi: 10.1136/jmg.2004.024455

BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention

McInerney-Leo, Aideen, Biesecker, Barbara Bowles, Hadley, Donald W., Kase, Ronald G., Giambarresi, Therese R., Johnson, Elizabeth, Lerman, Caryn and Struewing, Jeffery P. (2004). BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. American Journal of Medical Genetics Part A, 130A (3), 221-227. doi: 10.1002/ajmg.a.30265

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies

Johnson, J., Hague, S. M., Hanson, M., Gibson, A., Wilson, K. E., Evans, E. W., Singleton, A. A., McInerney-Leo, A., Nussbaum, R. L., Hernandez, D. G., Gallardo, M., McKeith, I. G., Burn, D. J., Ryu, M., Hellstrom, O., Ravina, B., Eerola, J., Perry, R. H., Jaros, E., Tienari, P., Weiser, R., Gwinn-Hardy, K., Morris, C. M., Hardy, J. and Singleton, A. B. (2004). SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology, 63 (3), 554-556. doi: 10.1212/01.WNL.0000133401.09043.44

Prevalence of Parkinson's disease in populations of African ancestry: a review

McInerney-Leo, Aideen, Gwinn-Hardy, Katrina and Nussbaum, Robert L. (2004). Prevalence of Parkinson's disease in populations of African ancestry: a review. Journal of the National Medical Association, 96 (7), 974-979.

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

Kelberman, D., Tyson, J., Chandler, D. C., McInerney, A. M., Slee, J., Albert, D., Aymat, A., Botma, M., Calvert, M., Goldblatt, J., Haan, E. A., Laing, N. G., Lim, J., Malcolm, S., Singer, S. L., Winter, R. M. and Bitner-Glindzicz, M. (2001). Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Human Genetics, 109 (6), 638-645. doi: 10.1007/s00439-001-0626-x

An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility

Green, Michael J., Biesecker, Barbara B., McInerney, Aideen M., Mauger, David and Fost, Norman (2001). An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. American Journal of Medical Genetics, 103 (1), 16-23. doi: 10.1002/ajmg.1500

Education about genetic testing for breast cancer susceptibility: patient preferences for a computer program or genetic counselor

Green, Michael J., McInerney, Aideen M., Biesecker, Barbara B. and Fost, Norman (2001). Education about genetic testing for breast cancer susceptibility: patient preferences for a computer program or genetic counselor. American Journal of Medical Genetics, 103 (1), 24-31. doi: 10.1002/ajmg.1501

Minocycline-induced generalized postinflammatory elastolysis

Ho, Nicola C, McInerney, Aideen, Levy, Howard, Francomano, Clair A and Elkayam, Ori (2000). Minocycline-induced generalized postinflammatory elastolysis. The American Journal of Medicine, 109 (4), 340-340. doi: 10.1016/s0002-9343(00)00499-x

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.

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.

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.

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.

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

Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta

Duncan, Emma, McInerney-Leo, Aideen, Leo, Paul, Gardiner, Brooke, Marshall, Mhairi, Coucke, Paul, Loeys, Bart, West, Malcolm, West, Jennifer, Wordsworth, Paul, Zankl, Andreas, Brown, Matthew and van Laer, Lut (2013). Whole exome sequencing is a sensitive and cost-effective means of detecting mutations in patients with Marfan syndrome and osteogenesis imperfecta. Annual Meeting of the American Society for Bone and Mineral Research, Baltimore, MD, United States, 4-7 October 2013. Hoboken, NJ, United States: Wiley-Blackwell.

Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis

McInerney-Leo, A., Zankl, A., Duncan, E., Clark, G., Leo, P., Glasov, E. and Brown, M. (2012). Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis. Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting, Canberra, Australia, 12-15 May 2012. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/j.1445-5994.2012.02759.x

Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era

McInerney-Leo, A., Glasov, E., Duncan, E. and Zankl, A. (2011). Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era. Rheumatology Health Professionals Association 52nd Annual Scientific Meeting, Brisbane, Queensland, 14-17 May 2011. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/j.1445-5994.2010.02467.x

Exome sequencing for genetic testing, novel gene discovery, identification of genetic modifiers and familial perceptions of the aetiology of phenotypic variability

McInerney-Leo, Aideen (2017). Exome sequencing for genetic testing, novel gene discovery, identification of genetic modifiers and familial perceptions of the aetiology of phenotypic variability. PhD Thesis, UQ Diamantina Institute, The University of Queensland. doi: 10.14264/uql.2017.530