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| Author | Identifier | Number of Items | Total Downloads |
|---|---|---|---|
| Simons, C |  https://orcid.org/0000-0003-3147-8042 |
17 | 1283 |
| Title | Author(s) | IrusType | Repository | Item URL | Total Downloads |
|---|---|---|---|---|---|
| A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies | Parikh, Sumit; Bernard, Geneviève; Leventer, Richard J.; van der Knaap, Marjo S.; van Hove, Johan; Pizzino, Amy; McNeill, Nathan H.; Helman, Guy; Simons, Cas; Schmidt, Johanna L.; Rizzo, William B.; Patterson, Marc C.; Taft, Ryan J.; Vanderver, Adeli | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:356542 | 481 |
| A protocol for the identification and validation of novel genetic causes of kidney disease | Mallett, Andrew; Patel, Chirag; Maier, Barbara; McGaughran, Julie; Gabbett, Michael; Takasato, Minoru; Cameron, Anne; Trnka, Peter; Alexander, Stephen I.; Rangan, Gopala; Tchan, Michel C.; Caruana, Georgina; John, George; Quinlan, Cathy; McCarthy, Hugh J. | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:370493 | 80 |
| DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder | Wolf, Nicole I.; Toro, Camilo; Kister, Ilya; Abd Latif, Kartikasalwah; Leventer, Richard; Pizzino, Amy; Simons, Cas; Abbink, Truus E. M.; Taft, Ryan J.; van der Knaap, Marjo S.; Vanderver, Adeline | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:353191 | 105 |
| Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome | Crawford, Joanna; Bower, Neil I.; Hogan, Benjamin M.; Taft, Ryan J.; Gabbett, Michael T.; McGaughran, Julie; Simons, Cas | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:408583 | 44 |
| Expression of distinct RNAs from 3 ' untranslated regions | orcid:0000-0002-7757-4075; orcid:0000-0003-4423-934X; orcid:0000-0003-3147-8042; orcid:0000-0002-7989-6043; orcid:0000-0001-6939-0914; orcid:0000-0002-7680-7527; Mercer, TR; Wilhelm, D; Dinger, ME; Solda, G; Korbie, DJ; Glazov, EA; Vy, T; Schwenke, M; Sim | Article | University of Melbourne [Minerva Access] | http://hdl.handle.net/11343/209036 | 23 |
| Expression of distinct RNAs from 3′ untranslated regions | Mercer, Tim R.; Wilhelm, Dagmar; Dinger, Marcel E.; Solda, Giulia; Korbie, Darren J.; Glazov, Evgeny A.; Truong, Vy; Schwenke, Maren; Simons, Cas; Matthaei, Klaus I.; Saint, Robert; Koopman, Peter; Mattick, John S. | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:227900 | 25 |
| Long Noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation | Dinger, Marcel E.; Amaral, Paulo P.; Mercer, Tim R; Pang, Ken C.; Bruce, Stephen J.; Gardiner, Brooke B.; Askarian-Amiri, Marjan E.; Ru, Kelin; Solda, Giulia; Simons, Cas; Sunkin, Susan M.; Crowe, Mark L.; Grimmond, Sean M; Perkins, Andrew C.; Mattick, Jo | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:163580 | 39 |
| MAFB modulates the maturation of lymphatic vascular networks in mice | Rondon‐Galeano, Maria; Skoczylas, Renae; Bower, Neil I.; Simons, Cas; Gordon, Emma; Francois, Mathias; Koltowska, Katarzyna; Hogan, Benjamin M. | Article | University of Queensland [UQ eSpace] | 1 | |
| Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy | Pizzino, Amy; Whitehead, Matthew; Sabet Rasekh, Parisa; Murphy, Jennifer; Helman, Guy; Bloom, Miriam; Evans, Sarah H; Murnick, John G; Conry, Joan; Taft, Ryan J; Simons, Cas; Vanderver, Adeline; Adang, Laura A | Article | University of Queensland [UQ eSpace] | 8 | |
| Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (vol 47, pg 73, 2015) | Simons, Cas; Rash, Lachlan D.; Crawford, Joanna; Ma, Linlin; Cristofori-Armstrong, Ben; Miller, David; Ru, Kelin; Baillie, Gregory J.; Alanay, Yasemin; Jacquinet, Adeline; Debray, Franois-Guillaume; Verloes, Alain; Shen, Joseph; Yesil, Goezde; Guler, Serh | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:718643 | 120 |
| Myosin Vb is required for correct trafficking of N-cadherin and cardiac chamber ballooning | Grassini, Daniela R.; Da Silva, Jason; Hall, Thomas E.; Baillie, Gregory J.; Simons, Cas; Parton, Robert G.; Hogan, Benjamin M.; Smith, Kelly A. | Article | University of Queensland [UQ eSpace] | 4 | |
| Randomized clinical trial of first‐line genome sequencing in pediatric white matter disorders | Vanderver, Adeline; Bernard, Genevieve; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie; Masser‐Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephan | Article | University of Queensland [UQ eSpace] | 26 | |
| Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy | Perrier, S.; Gauquelin, L.; Tétreault, M.; Tran, L. T.; Webb, N.; Srour, M.; Mitchell, J. J.; Brunel-Guitton, C.; Majewski, J.; Long, V.; Keller, S.; Gambello, M. J.; Simons, C.; Care4Rare Canada Consortium; Vanderver, A.; Bernard, G. | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:715734 | 8 |
| RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss—another mendelian mimicker of congenital cytomegalovirus infection | Ulrick, Nicole; Goldstein, Amy; Simons, Cas; Taft, Ryan J.; Helman, Guy; Pizzino, Amy; Bloom, Miriam; Vogt, Julie; Pysden, Karen; Diodato, Daria; Martinelli, Diego; Monavari, Ahmad; Buhas, Daniela; van Karnebeek, Clara D. M.; Dorboz, Imen; Boespflug-Tangu | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:416962 | 212 |
| Transposon free regions in vertebrate genomes | Cas Simons | Thesis or Dissertation | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:155137 | 8 |
| TUBB4A de novo mutations cause isolated hypomyelination | Pizzino, Amy; Pierson, Tyler Mark; Guo, Yiran; Helman, Guy; Fortini, Sebastian; Guerrero, Kether; Saitta, Sulagna; Murphy, Jennifer Louise Patrick; Padiath, Quasar; Xie, Yi; Hakonarson, Hakon; Xu, Xun; Funari, Tara; Fox, Michelle; Taft, Ryan J.; van der K | Article | University of Queensland [UQ eSpace] | https://espace.library.uq.edu.au/view/UQ:341606 | 85 |
| Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform | Helman, Guy; Takanohashi, Asako; Hagemann, Tracy L.; Perng, Ming D.; Walkiewicz, Marzena; Woidill, Sarah; Sase, Sunetra; Cross, Zachary; Du, Yangzhu; Zhao, Ling; Waldman, Amy; Haake, Bret C.; Fatemi, Ali; Brenner, Michael; Sherbini, Omar; Messing, Albee; | Article | University of Queensland [UQ eSpace] | 14 |
