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 · 287 citations

Medicine, Molecular Genetics, Neurology +17

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin, Sara A. Lewis, Somayeh Bakhtiari et al. · Nature Genetics · 2020 · 175 citations · Full text

Life Sciences, Genetics, Neuroscience +14

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

Ali Torkamani, Kevin Bersell, Benjamin S. Jorge et al. · Annals of Neurology · 2014 · 146 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 111 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +12

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti et al. · The American Journal of Human Genetics · 2020 · 110 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17