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2019 Journal Article 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 |
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2019 Journal Article Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohortJohnson, 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 |
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2018 Journal Article Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicingMaharaj, 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 |
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2018 Journal Article Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinismJohnson, 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 |
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2018 Journal Article Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotypeCundy, 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 |
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2018 Journal Article Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytomaMcInerney-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 |
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2017 Journal Article NAD deficiency, congenital malformations, and niacin supplementationShi, 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 |
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2017 Journal Article Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological causeHunt, 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 |
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2017 Journal Article Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrumMcinerney-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 |
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2017 Other Outputs Exome sequencing for genetic testing, novel gene discovery, identification of genetic modifiers and familial perceptions of the aetiology of phenotypic variabilityMcInerney-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 |
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2016 Journal Article Factors associated with parental adaptation to children with an undiagnosed medical conditionYanes, 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 |
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2016 Journal Article Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasiaWade, 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 |
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2016 Journal Article Fryns syndrome associated with recessive mutations in PIGN in two separate familiesMcinerney-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 |
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2016 Journal Article Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionCortes, 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 |
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2016 Journal Article Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasiaMcInerney-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 |
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2015 Journal Article Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsMcInerney-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 |
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2015 Journal Article Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal DementiaSurampalli, 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 |
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2015 Journal Article Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophiesMcInerney-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 |
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2014 Journal Article 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 |
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2014 Journal Article Knowledge and attitudes towards genetic testing in those affected with Parkinson’s diseaseScuffham, 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 |
