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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 73   22 Cited 19 times in Scopus19 4
Smart, Chanel E., Askarian Amiri, Marjan E., Wronski, Ania, Dinger, Marcel E., Crawford, Joanna, Ovchinnikov, Dmitry A., Vargas, Ana Cristina, Reid, Lynne, Simpson, Peter T., Song, Sarah, Wiesner, Christiane, French, Juliet D., Dave, Richa K., da Silva, Leonard, Purdon, Amy, Andrew, Megan, Mattick, John S., Lakhani, Sunil R., Brown, Melissa A. and Kellie, Stuart (2012) Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors. PLoS One, 7 7: e40742.1-e40742.13. doi:10.1371/journal.pone.0040742 142   1 Cited 2 times in Scopus2 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 60   8 Cited 10 times in Scopus10 19
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, . doi:10.1038/ng.3153 29   Cited 0 times in Scopus0 56
Cossetti, Chiara, Mercer, Tim R., Alpi, Emanuele, Leonardi, Tommaso, Drago, Denise, Iraci, Nunzio, Alfaro-Cervello, Clara, Dinger, Marcel E., Dietmann, Sabine, Crawford, Joanna, Caddeo, Carla, Garcia Verdugo, Manuel, Bachi, Angela, Mattick, John S. and Pluchino, Stefano (2012). Neural stem cells sort protein and RNA cargoes for export with exosomes in response to inflammation. In: Proceedings of the 11th International Congress of Neuroimmunology (ISNI). 11th International Congress of Neuroimmunology (ISNI), Boston MA., United States, (127-127). 4-8 November 2012. 81   0
Askarian-Amiri, Marjan E., Crawford, Joanna, French, Juliet D., Smart, Chanel E., Smith, Martin A., Clark, Michael B., Ru, Kelin, Mercer, Tim R., Thompson, Ella R., Lakhani, Sunil R., Vargas, Ana C., Campbell, Ian G., Brown, Melissa A., Dinger, Marcel E. and Mattick, John S. (2011) SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer. RNA, 17 5: 878-891. doi:10.1261/rna.2528811 129   46 Cited 49 times in Scopus49 0
Mercer, Tim R., Gerhardt, Daniel J., Dinger, Marcel E., Crawford, Joanna, Trapnell, Cole, Jeddeloh, Jeffrey A., Mattick, John S. and Rinn, John L. (2012) Targeted RNA sequencing reveals the deep complexity of the human transcriptome. Nature Biotechnology, 30 1: 99-104. doi:10.1038/nbt.2024 72 201 104 Cited 115 times in Scopus115 35
Mercer, Tim R., Clark, Michael B., Crawford, Joanna, Brunck, Marion E., Gerhardt, Daniel J., Taft, Ryan J., Nielsen, Lars K., Dinger, Marcel E. and Mattick, John S. (2014) Targeted sequencing for gene discovery and quantification using RNA CaptureSeq. Nature Protocols, 9 5: 989-1009. doi:10.1038/nprot.2014.058 49   0 Cited 0 times in Scopus0 6
Mercer, Tim R., Neph, Shane, Dinger, Marcel E., Crawford, Joanna, Smith, Martin A., Shearwood, Anne-Marie J., Haugen, Eric, Bracken, Cameron P., Rackham, Oliver, Stamatoyannopoulos, John A., Filipovska, Aleksandra and Mattick, John S. (2011) The human mitochondrial transcriptome. Cell, 146 4: 645-658. doi:10.1016/j.cell.2011.06.051 55 189 101 Cited 102 times in Scopus102 28
Khaitan, D., Dinger, M. E., Mazar, J., Crawford, J., Smith, M. A., Mattick, J. S. and Perera, R. J. (2011). The melanoma-upregulated long noncoding RNA SPRY4-IN1 modulates apoptosis and invasion. In: Special Issue: 36th FEBS Congress, Biochemistry for Tomorrow's Medicine. 36th FEBS Congress, Biochemistry for Tomorrows Medicine, Torino, Italy, (88-88). 25-30 June 2010. doi:10.1111/j.1742-4658.2011.08137.x 152   0 0
Khaitan, Divya, Dinger, Marcel E., Mazar, Joseph, Crawford, Joanna, Smith, Martin A., Mattick, John S. and Perera, Ranjan J. (2011) The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion. Cancer Research, 71 11: 3852-3862. doi:10.1158/0008-5472.CAN-10-4460 135 117 65 Cited 75 times in Scopus75 6