Concepedia

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni, Gianfranco Bocchinfuso, Francesca Clementina Radio, Serena Cecchetti, Andrea Ciolfi, Martina Di Rocco, Mariet W. Elting, Eva H. Brilstra,

The American Journal of Human Genetics · 2020 · 95 citations · 43 references

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43

UCSF Chimera—A visualization system for exploratory research and analysis

Eric F. Pettersen, Thomas D. Goddard, Conrad C. Huang et al. · Journal of Computational Chemistry · 2004 · 47.8K citations

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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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A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

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Efficient gene transfer in C.elegans: extrachromosomal maintenance and integration of transforming sequences.

C C Mello, James M. Kramer, Dan T. Stinchcomb et al. · The EMBO Journal · 1991 · 3.2K citations · Full text

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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

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