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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 78   24 Cited 25 times in Scopus25 7
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 148   2 Cited 3 times in Scopus3 0
Mercer, Tim R., Clark, Michael B., Anderson, Stacey B., Brunck, Marion E., Haerty, Wilifried, Crawford, Joanna, Taft, Ryan J., Nielsen, Lars K., Dinger, Marcel E. and Mattick, John S. (2015) Genome-wide discovery of human splicing branchpoints. Genome Research, 25 2: 290-303. doi:10.1101/gr.182899.114 15   0 Cited 0 times in Scopus0 16
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 62   12 Cited 10 times in Scopus10 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 59   0 Cited 1 times in Scopus1 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. 86   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 132   50 Cited 56 times in Scopus56 3
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 74 242 115 Cited 123 times in Scopus123 44
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 59   2 Cited 1 times in Scopus1 9
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 60 205 109 Cited 110 times in Scopus110 32
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 156   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 136 133 68 Cited 81 times in Scopus81 9