Somaya Salah

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

Boris Fichtman, Tamar Harel, Nitzan Biran et al. · The American Journal of Human Genetics · 2019 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

Ruth Sheffer, Michal Gur, Rebecca Brooks et al. · European Journal of Human Genetics · 2019 · 35 citations · Full text

Life Sciences, Genetics, Neuroscience +15

Biallelic deletion in a minimal <scp> <i>CAPN15</i> </scp> intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

Hagar Mor‐Shaked, Somaya Salah, Shira Yanovsky‐Dagan et al. · Clinical Genetics · 2021 · 14 citations

Life Sciences, Genetics, Molecular Genetics +17