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30 Publications

2016 | Journal Article | IST-REx-ID: 1240   OA
A. Kornienko et al., “Long non-coding RNAs display higher natural expression variation than protein-coding genes in healthy humans,” Genome Biology, vol. 17, no. 1, 2016.
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2016 | Journal Article | IST-REx-ID: 1183
D.-C. Tarlungeanu et al., “Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder,” Cell, vol. 167, no. 6, pp. 1481–1494, 2016.
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2015 | Journal Article | IST-REx-ID: 1497   OA
D. Andergassen et al., “Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data,” Nucleic Acids Research, vol. 43, no. 21, 2015.
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2015 | Journal Article | IST-REx-ID: 1789   OA
A. Kuechler et al., “Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome,” European Journal of Human Genetics, vol. 23, no. 6, pp. 753–760, 2015.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
2014 | Journal Article | IST-REx-ID: 1916
G. Novarino et al., “Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders,” Science, vol. 343, no. 6170, pp. 506–511, 2014.
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