Concepedia

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel, Claudia Schob, Sébastien Küry, Margot R.F. Reijnders, Tamar Harel, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Jonas Denecke, Simon Edvardson, Estelle Colin,

The American Journal of Human Genetics · 2017 · 109 citations · 33 references

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An integrated encyclopedia of DNA elements in the human genome

Nature · 2012 · 19.4K citations · Full text

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Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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SUnSET, a nonradioactive method to monitor protein synthesis

Enrico Schmidt, Giovanna Clavarino, Maurizio Ceppi et al. · Nature Methods · 2009 · 1.8K citations

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

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Robust transcriptome-wide discovery of RNA-binding protein binding sites with enhanced CLIP (eCLIP)

Eric L. Van Nostrand, Gabriel A. Pratt, A.A. Shishkin et al. · Nature Methods · 2016 · 1.6K citations

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