Dr Aideen McInerney-Leo
Genetic Counsellor and Researcher
University of Queensland Diamantina Institute
Email:
Phone:
+61 (0)412 781 162
Dr Aideen McInerney-Leo studied Human Genetics as an undergraduate at the University College London and her Masters in Genetic Counselling at the University of Manchester. Following graduation Aideen moved to Maryland in the USA to a position at the National Institutes of Health where she remained for the following eight years. During this time she had many roles including associate director of the genetic counselling masters program at Johns Hopkins University, clinical genetic counsellor and researcher counsellor. Research studies included Hereditary Breast and Ovarian Cancer, Turner syndrome, Premature Ovarian Failure and neurodegenerative diseases in general with a special interest in Parkinson Disease. Aideen moved to Australia in 2006 where she accepted a position as a prenatal genetic counsellor. In 2011 she returned to research at the University of Queensland Diamantina Institute where she got the opportunity to identify new genes for rare genetic disorders, especially focusing on disorders which affected the development of the skeleton. Aideen subsequently elected to do a PhD on the analysis of whole exome sequencing for genetic testing and gene identification. Aideen currently works with the University of Queensland Diamantina Institute under the mentorship of Prof Peter Soyer, using her gene identification skills to identify new genes for melanoma. Furthermore, Aideen is interested in assessing whether genetic testing and counselling will improve sun protective behaviours and screening practices in high risk individuals.
Conference Paper
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. In: Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting Conference Abstracts. Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting, Canberra, Australia, (2-2). 12-15 May 2012. doi:10.1111/j.1445-5994.2012.02759.x
Journal Article
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
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
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
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, Chapman, Gavin, Duncan, Emma L., Sparrow, Duncan B. and Dunwoodie, Sally L. (2017) NAD deficiency, congenital malformations, and niacin supplementation. New England Journal of Medicine, 377 6: 544-552. doi:10.1056/NEJMoa1616361
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
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
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
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
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
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 . doi:10.1038/srep24083
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
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
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
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
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
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
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: 1-6. doi:10.1186/1471-2474-15-107
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
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
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., Brown, Matthew A., Beales, Philip L., Wicking, Carol, UK10K, Duncan, Emma L. and 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
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, Leroux, Michel R., Scambler, Peter J., Zhan, Shing H., Jones, Steven J., Kayserili, Hulya, Tuysuz, Beyhan, Moorani, Khemchand N., Constantinescu, Alexandru, Krantz, Ian D., Kaplan, Bernard S., Shah, Jagesh V., Hurd, Toby W., Doherty, Dan, Katsanis, Nicholas, Duncan, Emma L., Otto, Edgar A., Beales, Philip L., Mitchison, Hannah M., Saunier, Sophie and 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
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
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
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
Thesis
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
Projects