Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

Yazar: McInerney-Leo, Aideen M., Duncan, Emma L.
Yayımlandı Front Endocrinol (Lausanne) (2021)

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

Yazar: McInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A., Duncan, Emma
Yayımlandı Front Genet (2020)

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

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

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

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

Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services

Yazar: 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.
Yayımlandı 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

Yazar: 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
Yayımlandı BMJ Open (2019)

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

Yazar: 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
Yayımlandı Sci Rep (2016)

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

Yazar: 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.
Yayımlandı PLoS One (2020)

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

Yazar: 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
Baskı/Yayın Bilgisi 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

Yazar: 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
Baskı/Yayın Bilgisi 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

Yazar: 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
Yayımlandı J Bone Miner Res (2018)

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

Yazar: 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
Baskı/Yayın Bilgisi 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

Yazar: 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
Yayımlandı J Bone Miner Res (2019)

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

Yazar: 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.
Baskı/Yayın Bilgisi 2013

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

Yazar: 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
Yayımlandı J Endocr Soc (2018)

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

Yazar: 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
Yayımlandı Hum Mol Genet (2020)

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

Yazar: 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
Baskı/Yayın Bilgisi 2013