Alexander G. Bassuk

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 · 463 citations · Full text

Genome-wide Association Study, Allelic Variant, Genetic Disorder +13

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Derek Neilson, Mark D. Adams, Caitlin M.D. Orr et al. · The American Journal of Human Genetics · 2009 · 349 citations · Full text

Genetic Disorder, Pathogenesis, Nuclear Pore +8

Unexpected mutations after CRISPR–Cas9 editing in vivo

Kellie A. Schaefer, Wen-Hsuan Wu, Diana F. Colgan et al. · Nature Methods · 2017 · 331 citations · Full text

In Vivo Gene Therapy, Genetics, Genetic Engineering +4

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation

Kimberly A. Aldinger, Ordan J. Lehmann, Louanne Hudgins et al. · Nature Genetics · 2009 · 280 citations · Full text

Neurobiology Of Disease, Developmental Biology, Genetic Disorder +8