Julie S. Cohen

Clinical whole exome sequencing in child neurology practice

Siddharth Srivastava, Julie S. Cohen, Hilary J. Vernon et al. · Annals of Neurology · 2014 · 284 citations

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 170 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

De novo <i>KCNB1</i> mutations in epileptic encephalopathy

Ali Torkamani, Kevin Bersell, Benjamin S. Jorge et al. · Annals of Neurology · 2014 · 143 citations · Full text

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

Alex R. Paciorkowski, Ryan N. Traylor, Jill A. Rosenfeld et al. · Neurogenetics · 2013 · 108 citations · Full text

Consistent Hyperkinesis, Synaptic Plasticity, Developmental Biology +14

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8