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A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome

Alina Ilie, Andy Gao, Annie Boucher, Jaeok Park, Albert M. Berghuis, Mariëtte J.V. Hoffer, Yvonne Hilhorst‐Hofstee, R. Anne McKinney, John Orlowski

Neurobiology of Disease · 2018 · 25 citations · 55 references

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55

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Aaron McKenna, Matthew G. Hanna, Eric Banks et al. · Genome Research · 2010 · 30K citations · Full text

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Analysis of the Human Tissue-specific Expression by Genome-wide Integration of Transcriptomics and Antibody-based Proteomics

Linn Fagerberg, Björn M. Hallström, Per Oksvold et al. · Molecular & Cellular Proteomics · 2013 · 3.8K citations · Full text

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Ceramide Triggers Budding of Exosome Vesicles into Multivesicular Endosomes

Katarina Trajković, Chieh Hsu, Salvatore Chiantia et al. · Science · 2008 · 3.6K citations · Full text

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Proteomic comparison defines novel markers to characterize heterogeneous populations of extracellular vesicle subtypes

Joanna Kowal, Guillaume Arras, Marina Colombo et al. · Proceedings of the National Academy of Sciences · 2016 · 3.4K citations · Full text

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Vesicle formation during reticulocyte maturation. Association of plasma membrane activities with released vesicles (exosomes).

Rose M. Johnstone, Mohammed Adam, James R. Hammond et al. · Journal of Biological Chemistry · 1987 · 2.9K citations · Full text

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