Publications

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Author Title [ Year(Desc)]
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2014
Çağlayan, A. Okay et al. Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations. Pediatr Neurol 51, 806-813.e8 (2014).
Mishra-Gorur, K. et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron 84, 1226-39 (2014).
2015
Çağlayan, A. Okay et al. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet 58, 39-43 (2015).
2018
Guemez-Gamboa, A. et al. Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome. Ann Neurol 84, 638-647 (2018).
2021
Çağlayan, A. Okay et al. METAP1 mutation is a novel candidate for autosomal recessive intellectual disability. J Hum Genet 66, 215-218 (2021).