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2014 Journal Article The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VLazarus, 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 |
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2014 Journal Article Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomasMcInerney-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 |
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2013 Journal Article Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndromeMcInerney-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 |
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2013 Journal Article Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophySchmidts, 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 |
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2013 Journal Article Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in HumansHalbritter, 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 |
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2013 Journal Article Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60McInerney-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 |
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2013 Journal Article Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6Sparrow, 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 |
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2012 Journal Article Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, AustraliaHunt, 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 |
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2007 Journal Article Comprehensive screening of a north American Parkinson's disease cohort for LRRK2 mutationJohnson, 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 |
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2006 Journal Article BRCA1/2 testing in hereditary breast and ovarian cancer families III: risk perception and screeningMcInerney-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 |
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2006 Journal Article Truth-telling and Turner syndrome: the importance of diagnostic disclosureSutton, 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 |
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2005 Journal Article Turner syndrome: four challenges across the lifespanSutton, 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 |
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2005 Journal Article Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's diseaseSimon-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 |
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2005 Journal Article Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotypeMeyer-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 |
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2005 Journal Article Clinical and positron emission tomography of Parkinson's disease caused by LRRK2Hernandez, 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 |
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2005 Journal Article BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationshipsMcInerney‐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 |
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2005 Journal Article Genetic testing in Parkinson's diseaseMcInerney-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 |
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2005 Journal Article Genetic testing in Parkinson's diseaseMcInerney-Leo, Aideen (2005). Genetic testing in Parkinson's disease. Movement Disorders, 20 (7), 908-909. doi: 10.1002/mds.20509 |
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2004 Journal Article Parkinsonism among Gaucher disease carriersGoker-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 |
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2004 Journal Article Analysis of the PINK1 gene in a large cohort of cases with Parkinson diseaseRogaeva, 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 |
