Bruria Ben‐Zeev

Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

Robyn H. Wallace, Ingrid E. Scheffer, Shaun Barnett et al. · The American Journal of Human Genetics · 2001 · 344 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu, Slavé Petrovski, Pingxing Xie et al. · Genetics in Medicine · 2015 · 342 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 315 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 285 citations

Life Sciences, Genetics, Molecular Genetics +8

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 249 citations · Full text

Life Sciences, Genetics, Neuroscience +17