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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, Adeline and on behalf of the GLIA Consortium (2015) A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Molecular Genetics and Metabolism, 114 4: 501-515. doi:10.1016/j.ymgme.2014.12.434 30   1 Cited 2 times in Scopus2 2
Simons, Cas, Wolf, Nicole I., McNeil, Nathan, Caldovic, Ljubica, Devaney, Joseph M., Takanohashi, Asako, Crawford, Joanna, Ru, Kelin, Grimmond, Sean M., Miller, David, Tonduti, Davide, Schmidt, Johanna L., Chudnow, Robert S., van Coster, Rudy, Lagae, Lieven, Kisler, Jill, Sperner, Juergen, van der Knaap, Marjo S., Schiffmann, Raphael, Taft, Ryan J. and Vanderver, Adeline (2013) A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. American Journal of Human Genetics, 92 5: 767-773. doi:10.1016/j.ajhg.2013.03.018 84   31 Cited 27 times in Scopus27 7
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. and Vanderver, Adeline (2015) DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology, 84 3: 226-230. doi:10.1212/WNL.0000000000001157 71 1 2 Cited 2 times in Scopus2 1
Taft, R. J., Kaplan, C. D., Simons, C and Mattick, J. S. (2009) Evolution, biogenesis and function of promoter-associated RNAs. Cell Cycle, 8 15: 2332-2338. doi:10.4161/cc.8.15.9154 51   44 Cited 51 times in Scopus51 0
Prokudin, Ivan, Simons, Cas, Grigg, John R., Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y., Smith, James, Flaherty, Maree, Davila, Sonia and Jamieson, Robyn V. (2014) Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. European Journal of Human Genetics, 22 7: 907-915. doi:10.1038/ejhg.2013.268 13   3 Cited 3 times in Scopus3 0
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 and Mattick, John S. (2011) Expression of distinct RNAs from 3′ untranslated regions. Nucleic Acids Research, 39 6: 2393-2403. doi:10.1093/nar/gkq1158 115 23 57 Cited 68 times in Scopus68 1
Hamilton, Eline M., Polder, Emiel, Vanderver, Adeline, Naidu, Sakkubai, Schiffmann, Raphael, Fisher, Kate, Raguz, Ana Boban, Blumkin, Luba, H-ABC Research Group, van Berkel, Carola G. M., Waisfisz, Quinten, Simons, Cas, Taft, Ryan J., Abbink, Truus E. M., Wolf, Nicole I. and van der Knapp, Marjo S. (2014) Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain, 137 7: 1921-1930. doi:10.1093/brain/awu110 46   6 Cited 5 times in Scopus5 1
Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M. and Taft, Ryan J. (2013) Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatric Neurology, In Press, Corrected Proof 1-3. doi:10.1016/j.pediatrneurol.2013.06.024 67 1 4 Cited 5 times in Scopus5 3
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. and Mattick, John S. (2008) Long Noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation. Genome Research, 18 9: 1433-1445. doi:10.1101/gr.078378.108 88   278 Cited 284 times in Scopus284 4
Simons C., Griffin L.B., Helman G., Golas G., Pizzino A., Bloom M., Murphy J.L.P., Crawford J., Evans S., Topper S., Whitehead M.T., Schreiber J., Chapman K.A., Tifft C., Lu K.B., Gamper H., Shigematsu M., Taft R.J., Antonellis A., Hou Y.-M. and Vanderver A. (2015) Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect. American Journal of Human Genetics, 96 4: 675-681. doi:10.1016/j.ajhg.2015.02.012 21   0 Cited 0 times in Scopus0 8
Simons, Cas, Makunin, Igor V., Pheasant, Michael and Mattick, John S. (2007) Maintenance of transposon-free regions throughout vertebrate evolution. BMC Genomics, 8 470-479. doi:10.1186/1471-2164-8-470 60   16 Cited 16 times in Scopus16 0
Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joanna, Rosser, Tena, de Coo, Irenaeus F. M., Juneja, Monica, Verma, Ishwar C., Prabhakar, Prab, Blaser, Susan, Raiman, Julian, Pouwels, Petra J. W., Bevova, Marianna R., Abbink, Truus E. M., van der Knaap, Marjo S. and Wolf, Nicole I. (2013) Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. American Journal of Human Genetics, 92 5: 774-780. doi:10.1016/j.ajhg.2013.04.006 65   15 Cited 15 times in Scopus15 21
Simons Cas, Rash, Lachlan D., Crawford, Joanna, Ma, Linlin, Cristofori-Armstrong, Ben, Miller, David, Ru, Kelin, Baillie, Gregory J., Alanay, Yasemin, Jacquinet, Adeline, Debray, François-Guillaume, Verloes, Alain, Shen, Joseph, Yesil, Gözde, Guler, Serhat, Yuksel, Adnan, Cleary, John G., Grimmond, Sean M., McGaughran, Julie, King, Glenn F., Gabbett, Michael T. and Taft, Ryan J. (2014) Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nature Genetics, 47 1: 73-+. doi:10.1038/ng.3153 69   2 Cited 1 times in Scopus1 57
Taft, Ryan, Simons, Cas, Nahkuri, Satu, Oey, Harald, Korbie, Darren J., Mercer, Timothy R., Holst, Jeff, Ritchie, William, Wong, Justin J-L., Rasko, John E. J., Rokhsar, Daniel S., Degnan, Bernard M. and Mattick, John S. (2010) Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans. Nature Structural and Molecular Biology, 17 8: 1030-1035. doi:10.1038/nsmb.1841 115   78 Cited 85 times in Scopus85 0
Makunin, Igor, Pheasant, Michael, Simons, Cas and Mattick, John S. (2007) Orthologous MicroRNA genes are located in cancer-associated genomic regions in human and mouse. PLoS One, 2 11: . doi:10.1371/journal.pone.0001133 88   24 Cited 23 times in Scopus23 0
Miller, David K, Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John and Taft, Ryan J. (2014) Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PLoS One, 9 8: e104879.1-e104879.6. doi:10.1371/journal.pone.0104879 29   0 Cited 0 times in Scopus0 0
Mattick, JS, Croft, LJ, Dinger, ME, Pheasant, M, Makunin, IV, Amiri, MA, Mercer, TR, Pang, KC, Simons, C and Taft, RJ (2007). The human genome as an RNA machine. In: FEBS JOURNAL. 32nd Congress of the Federation-of-European-Biochemical-Societies (FEBS), Vienna AUSTRIA, (15-15). JUL 07-12, 2007. 39   0
Suzuki, H, Forrest, ARR, van Nimwegen, E, Daub, CO, Balwierz, PJ, Irvine, KM, Lassmann, T, Ravasi, T, Hasegawa, Y, de Hoon, MJL, Katayama, S, Schroder, K, Carninci, P, Tomaru, Y, Kanamori-Katayama, M, Kubosaki, A, Akalin, A, Ando, Y, Arner, E, Asada, M, Asahara, H, Bailey, T, Bajic, VB, Bauer, D, Beckhouse, AG, Bertin, N, Bjorkegren, J, Brombacher, F, Bulger, E, Chalk, AM, Chiba, J, Cloonan, N, Dawe, A, Dostie, J, Engstrom, PG, Essack, M, Faulkner, GJ, Fink, JL, Fredman, D, Fujimori, K, Furuno, M, Gojobori, T, Gough, J, Grimmond, SM, Gustafsson, M, Hashimoto, M, Hashimoto, T, Hatakeyama, M, Heinzel, S, Hide, W, Hofmann, O, Hornquist, M, Huminiecki, L, Ikeo, K, Imamoto, N, Inoue, S, Inoue, Y, Ishihara, R, Iwayanagi, T, Jacobsen, A, Kaur, M, Kawaji, H, Kerr, MC, Kimura, R, Kimura, S, Kimura, Y, Kitano, H, Koga, H, Kojima, T, Kondo, S, Konno, T, Krogh, A, Kruger, A, Kumar, A, Lenhard, B, Lennartsson, A, Lindow, M, Lizio, M, MacPherson, C, Maeda, N, Maher, CA, Maqungo, M, Mar, J, Matigian, NA, Matsuda, H, Mattick, JS, Meier, S, Miyamoto, S, Miyamoto-Sato, E, Nakabayashi, K, Nakachi, Y, Nakano, M, Nygaard, S, Okayama, T, Okazaki, Y, Okuda-Yabukami, H, Orlando, V, Otomo, J, Pachkov, M, Petrovsky, N, Plessy, C, Quackenbush, J, Radovanovic, A, Rehli, M, Saito, R, Sandelin, A, Schmeier, S, Schonbach, C, Schwartz, AS, Semple, CA, Sera, M, Severin, J, Shirahige, K, Simons, C, Laurent, GS, Suzuki, M, Suzuki, T, Sweet, MJ, Taft, RJ, Takeda, S, Takenaka, Y, Tan, K, Taylor, MS, Teasdale, RD, Tegner, J, Teichmann, S, Valen, E, Wahlestedt, C, Waki, K, Waterhouse, A, Wells, Christine A., Winther, O, Wu, L, Yamaguchi, K, Yanagawa, H, Yasuda, J, Zavolan, M, Hume, DA, Arakawa, T, Fukuda, S, Imamura, K, Kai, C, Kaiho, A, Kawashima, T, Kawazu, C, Kitazume, Y, Kojima, M, Miura, H, Murakami, K, Murata, M, Ninomiya, N, Nishiyori, H, Noma, S, Ogawa, C, Sano, T, Simon, C, Tagami, M, Takahashi, Y, Kawai, J, Hayashizaki, Y, FANTOM Consortium and Riken Omics Science Center (2009) The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. Nature Genetics, 41 5: 553-562. doi:10.1038/ng.375 167 2 209 Cited 213 times in Scopus213 6
Taft, RJ, Glazov, EA, Cloonan, N, Simons, C, Stephen, S, Faulkner, GJ, Lassmann, T, Forrest, ARR, Grimmond, SM, Schroder, K, Irvine, K, Arakawa, T, Nakamura, M, Kubosaki, A, Hayashida, K, Kawazu, C, Murata, M, Nishiyori, H, Fukuda, S, Kawai, J, Daub, CO, Hume, DA, Suzuki, H, Orlando, V, Carninci, P, Hayashizaki, Y and Mattick, JS (2009) Tiny RNAs associated with transcription start sites in animals. Nature Genetics, 41 5: 572-578. doi:10.1038/ng.312 106   197 Cited 216 times in Scopus216 2
Cas Simons (2008). Transposon free regions in vertebrate genomes PhD Thesis, Institute for Molecular Bioscience, The University of Queensland. 160 127
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 Knaap, Marjo S., Bernard, Genevieve, Schiffmann, Raphael, Simons, Cas and Vanderver, Adeline (2014) TUBB4A de novo mutations cause isolated hypomyelination. Neurology, 83 10: 898-902. doi:10.1212/WNL.0000000000000754 13   1 Cited 3 times in Scopus3 1
Hunt, David, Leventer, Richard J., Simons, Cas, Taft, Ryan, Swodboda, Kathryn J., Gwan-Cain, Mary, The DDD study, Magee, Alex C., Turnpenny, Peter D. and Baralle, Diana (2014) Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Journal of Medical Genetics, 51 12: 806-813. doi:10.1136/jmedgenet-2014-102798 21   0 10