Dorit Lev

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

Life Sciences, Genetics, Neuroscience +14

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 450 citations · Full text

Medicine, Genetics, Molecular Genetics +15

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

Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome

Liangliang Wang, Anu Gannavarapu, Claudia A. Kozinetz et al. · JNCI Journal of the National Cancer Institute · 2003 · 341 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Lisa L. Wang, Moise L. Levy, Richard A. Lewis et al. · American Journal of Medical Genetics · 2001 · 321 citations

Medicine, Dermatology, Pediatrics +17