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39 Publications

2016 | Journal Article | IST-REx-ID: 1183 | OA
Tarlungeanu D-C, Deliu E, Dotter C, et al. Impaired amino acid transport at the blood brain barrier is a cause of autism spectrum disorder. Cell. 2016;167(6):1481-1494. doi:10.1016/j.cell.2016.11.013
View | Files available | DOI
 
2015 | Journal Article | IST-REx-ID: 1497 | OA
Andergassen D, Dotter C, Kulinski T, et al. Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data. Nucleic Acids Research. 2015;43(21). doi:10.1093/nar/gkv727
View | Files available | DOI
 
2015 | Journal Article | IST-REx-ID: 1789 | OA
Kuechler A, Zink A, Wieland T, 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. 2015;23(6):753-760. doi:10.1038/ejhg.2014.165
View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 
2014 | Journal Article | IST-REx-ID: 1916 | OA
Novarino G, Fenstermaker A, Zaki M, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014;343(6170):506-511. doi:10.1126/science.1247363
View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 

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