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    • Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors 

      Minja, Frank J.; Caglar, CANER; Caglar, Cagri; Doelen, Duygu; Baranoski, Jacob F.; Erson-Omay, E. Zeynep; Mane, Shrikant M.; Lifton, Richard P.; Xu, Tian; Keshishian, Haig; Dobyns, William B.; Chi, Neil C.; Sestan, Nenad; Louvi, Angeliki; Bilguevar, Kaya; Yasuno, Katsuhito; Gleeson, Joseph G.; Guenel, Murat; Kumandas, Sefer; Mishra-Gorur, Ketu; Caglayan, Ahmet Okay; Schaffer, Ashleigh E.; Chabu, Chiswili; Henegariu, Octavian; Vonhoff, Fernando; Akguemues, Goezde Tugce; Nishimura, Sayoko; Han, Wenqi; Tu, Shu; Baran, Burcin; Gumus, Hakan; Dilber, Cengiz; Zaki, Maha S.; Hossni, Heba A. A.; Riviere, Jean-Baptiste; Kayserili, Huelya; Spencer, Emily G.; Rosti, Rasim Oe; Schroth, Jana; Per, Huseyin (2014-12-01)
      Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the ...