Concepedia

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M. Dibbens, Boukje de Vries, Simona Donatello, Sarah E. Heron, Bree Hodgson, Satyan Chintawar, Douglas E. Crompton, James N. Hughes, Susannah T. Bellows, Karl Martin Klein,

Nature Genetics · 2013 · 364 citations · 23 references

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23

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

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Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells

Junying Yu, Maxim A. Vodyanik, Kim Smuga-Otto et al. · Science · 2007 · 10.3K citations

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K citations · Full text

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

Ingrid E. Scheffer · Brain · 1997 · 749 citations · Full text

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp, Heather C. Mefford, Kelly Li et al. · Nature Genetics · 2008 · 591 citations

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