Concepedia

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Michael S. Hildebrand, Nicole G. Griffin, John A. Damiano, Elisa J. Cops, Rosemary Burgess, Ezgi Öztürk, Nigel C. Jones, Richard J. Leventer, Jeremy L. Freeman, A. Simon Harvey,

The American Journal of Human Genetics · 2016 · 73 citations · 24 references

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24

KEGG: Kyoto Encyclopedia of Genes and Genomes

Minoru Kanehisa · Nucleic Acids Research · 2000 · 39.2K citations · Full text

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KEGG: Kyoto Encyclopedia of Genes and Genomes

Hiroyuki Ogata, Susumu Goto, Kazushige Sato et al. · Nucleic Acids Research · 1999 · 32.4K citations · Full text

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VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

Daniel C. Koboldt, Qunyuan Zhang, David E. Larson et al. · Genome Research · 2012 · 5.3K citations · Full text

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De novo mutations in epileptic encephalopathies

Nature · 2013 · 1.6K citations · Full text

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Genomic Analysis of Non- <i>NF2</i> Meningiomas Reveals Mutations in <i>TRAF7</i> , <i>KLF4</i> , <i>AKT1</i> , and <i>SMO</i>

Victoria Clark, E. Zeynep Erson‐Omay, Akdes Serin et al. · Science · 2013 · 887 citations · Full text

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