Concepedia

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

Peter D. Galer, Shiva Ganesan, David Lewis‐Smith, Sarah McKeown, Manuela Pendziwiat, Katherine L. Helbig, Colin A. Ellis, Annika Rademacher, Lacey Smith, Annapurna Poduri,

The American Journal of Human Genetics · 2020 · 45 citations · 39 references

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39

R: A Language and Environment for Statistical Computing

R Core Team · 2000 · 353K citations · Full text

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta et al. · Nature · 2012 · 2.2K citations

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Using Information Content to Evaluate Semantic Similarity in a Taxonomy

Philip Resnik · arXiv (Cornell University) · 1995 · 1.8K citations · Full text

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De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

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