Concepedia

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Jeong Ho Lee, My N. Huynh, Jennifer L. Silhavy, Sangwoo Kim, Tracy Dixon‐Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J. Hill, Adrienne Collazo,

Nature Genetics · 2012 · 696 citations · 33 references

DOI

Concepts

References

33

High Frequency of Mutations of the <i>PIK3CA</i> Gene in Human Cancers

Yardena Samuels, Zhenghe Wang, Alberto Bardelli et al. · Science · 2004 · 3.4K citations

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Detection of large-scale variation in the human genome

A. John Iafrate, Lars Feuk, Miguel N. Rivera et al. · Nature Genetics · 2004 · 2.9K citations

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Predicting the functional impact of protein mutations: application to cancer genomics

Boris Reva, Yevgeniy Antipin, Chris Sander · Nucleic Acids Research · 2011 · 2.1K citations · Full text

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PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

Kai Wang, Mingyao Li, Dexter Hadley et al. · Genome Research · 2007 · 1.9K citations · Full text

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The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

Ingmar Blümcke, Maria Thom, Eleonora Aronica et al. · Epilepsia · 2010 · 1.7K citations · Full text

, , +11