Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

由 McInerney-Leo, Aideen M., Duncan, Emma L.
發表在 Front Endocrinol (Lausanne) (2021)

Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study

由 McInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A., Duncan, Emma
發表在 Front Genet (2020)

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

由 Demeshko, Anastassia, Pennisi, David J., Narayan, Sushil, Gray, Stacy W., Brown, Matthew A., McInerney-Leo, Aideen M.
發表在 J Transl Med (2020)

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

由 McInerney‐Leo, Aideen M., West, Jennifer, Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm, Duncan, Emma L.
發表在 Mol Genet Genomic Med (2020)

Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services

由 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, McInerney-Leo, Aideen M.
發表在 Front Genet (2020)

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

由 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, Finnane, Anna
發表在 BMJ Open (2019)

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

由 Cortés, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondón 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, Wicking, Carol
發表在 Sci Rep (2016)

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

由 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, Sturm, Richard A.
發表在 PLoS One (2020)

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

由 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, Paul Wordsworth, B, Zankl, Andreas, Leo, Paul J, Brown, Matthew A, Duncan, Emma L
出版 2013

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

由 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, Duncan, Emma L
出版 2014

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

由 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, Byers, Peter H
發表在 J Bone Miner Res (2018)

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

由 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, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol
出版 2013

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

由 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 CY, Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A, Hammond, Chrissy, Kemp, John P, Tobias, Jon H, Duncan, Emma L
發表在 J Bone Miner Res (2019)

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy

由 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, Duncan, Emma L., Mitchison, Hannah M.
出版 2013

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

由 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, Lopez-Siguero, Juan P, Harris, Mark, Duncan, Emma L, Hindmarsh, Peter C, Auchus, Richard J, Donaldson, Malcolm D, Achermann, John C, Metherell, Louise A
發表在 J Endocr Soc (2018)

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

由 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, Jobling, Rebekah, Gordon, Christopher T, Giampietro, Philip F, Dunwoodie, Sally L, Chapman, Gavin
發表在 Hum Mol Genet (2020)

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

由 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, Nitschké, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stéphane, Szabó, Attila J., Tory, Kálmán, 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, Hülya, 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, Hildebrandt, Friedhelm
出版 2013