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35 Publications
2016 | Journal Article | IST-REx-ID: 1240 
Kornienko, A., Dotter, C., Guenzl, P., Gisslinger, H., Gisslinger, B., Cleary, C., … Barlow, D. (2016). Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans. Genome Biology, 17(1). https://doi.org/10.1186/s13059-016-0873-8
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2016 | Journal Article | IST-REx-ID: 1183
Tarlungeanu, D.-C., Deliu, E., Dotter, C., Kara, M., Janiesch, P., Scalise, M., … Novarino, G. (2016). Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell, 167(6), 1481–1494. https://doi.org/10.1016/j.cell.2016.11.013
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2015 | Journal Article | IST-REx-ID: 1497
Andergassen, D., Dotter, C., Kulinski, T., Guenzl, P., Bammer, P., Barlow, D., … Hudson, Q. (2015). Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data. Nucleic Acids Research, 43(21). https://doi.org/10.1093/nar/gkv727
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2015 | Journal Article | IST-REx-ID: 1789
Kuechler, A., Zink, A., Wieland, T., Lüdecke, H., Cremer, K., Salviati, L., … Engels, H. (2015). Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics, 23(6), 753–760. https://doi.org/10.1038/ejhg.2014.165
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| PubMed | Europe PMC
2014 | Journal Article | IST-REx-ID: 1916
Novarino, G., Fenstermaker, A., Zaki, M., Hofree, M., Silhavy, J., Heiberg, A., … Gleeson, J. (2014). Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science, 343(6170), 506–511. https://doi.org/10.1126/science.1247363
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| PubMed | Europe PMC