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34 Publications

2016 | Journal Article | IST-REx-ID: 1183
Tarlungeanu, Dora-Clara, Elena Deliu, Christoph Dotter, Majdi Kara, Philipp Janiesch, Mariafrancesca Scalise, Michele Galluccio, et al. “Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.” Cell 167, no. 6 (2016): 1481–94. https://doi.org/10.1016/j.cell.2016.11.013.
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2015 | Journal Article | IST-REx-ID: 1497   OA
Andergassen, Daniel, Christoph Dotter, Tomasz Kulinski, Philipp Guenzl, Philipp Bammer, Denise Barlow, Florian Pauler, and Quanah Hudson. “Allelome.PRO, a Pipeline to Define Allele-Specific Genomic Features from High-Throughput Sequencing Data.” Nucleic Acids Research 43, no. 21 (2015). https://doi.org/10.1093/nar/gkv727.
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2015 | Journal Article | IST-REx-ID: 1789   OA
Kuechler, Alma, Alexander Zink, Thomas Wieland, Hermann Lüdecke, Kirsten Cremer, Leonardo Salviati, Pamela Magini, 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 23, no. 6 (2015): 753–60. https://doi.org/10.1038/ejhg.2014.165.
View | DOI | Download (ext.) | PubMed | Europe PMC
 
2014 | Journal Article | IST-REx-ID: 1916
Novarino, Gaia, Ali Fenstermaker, Maha Zaki, Matan Hofree, Jennifer Silhavy, Andrew Heiberg, Mostafa Abdellateef, et al. “Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders.” Science 343, no. 6170 (2014): 506–11. https://doi.org/10.1126/science.1247363.
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