6q22.1 microdeletion and susceptibility to pediatric epilepsy

Developmentally Regulated piRNA Clusters Implicate MILI in Transposon Control

Alexei A. Aravin, Ravi Sachidanandam, Angélique Girard et al. · Science · 2007 · 1K citations

Life Sciences, Genetics, Molecular Biology +12

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Heather C. Mefford, Hiltrud Muhle, P Ostertag et al. · PLoS Genetics · 2010 · 478 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Angela L. Duker, Blake C. Ballif, Erawati V. Bawle et al. · European Journal of Human Genetics · 2010 · 320 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

Erin L. Heinzen, Rodney A. Radtke, Thomas Urban et al. · The American Journal of Human Genetics · 2010 · 259 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Rare copy number variants are an important cause of epileptic encephalopathies

Heather C. Mefford, Simone C. Yendle, Cynthia L. Hsu et al. · Annals of Neurology · 2011 · 246 citations

Medicine, Genetics, Neurology +17