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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 81   30 Cited 26 times in Scopus26 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 47   1 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   43 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 53 Cited 64 times in Scopus64 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 32   5 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 66 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 87   273 Cited 280 times in Scopus280 4
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 59   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 63   13 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 63   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 114   76 Cited 83 times in Scopus83 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 87   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 28   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. 37   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.375 165 2 207 Cited 209 times in Scopus209 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   193 Cited 210 times in Scopus210 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 12   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 17   0 10