Genetics and Neurodevelopmental Disorders

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We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show…

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• ABDULLAH ERCÜMENT ÇİÇEK

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• ABDULLAH ERCÜMENT ÇİÇEK

Hippocampal sclerosis (HS) is the most frequent histopathology encountered in patients with drug-resistant temporal lobe epilepsy (TLE). Over the past decades, various attempts have been made to classify specific patterns of hippocampal neuronal cell loss and correlate subtypes with postsurgical outcome. However, no i…

• ÇİĞDEM ÖZKARA

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• FARZANEH LARTI

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• MEHMET SOMEL

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• ÖZGÜR ÖNER

In development, timing is of the utmost importance, and the timing of developmental processes often changes as organisms evolve. In human evolution, developmental retardation, or neoteny, has been proposed as a possible mechanism that contributed to the rise of many human-specific features, including an increase in br…

• MEHMET SOMEL

Copy number variations (CNVs) account for a substantial proportion of human genomic variation, and have been shown to cause neurodevelopmental disorders. We sought to determine the relevance of CNVs to the aetiology of schizophrenia (SZ). Whole-genome, high-resolution, tiling path BAC array comparative genomic hybridi…

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• FATMA MÜJGAN SÖNMEZ

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• AHMET OKAY ÇAĞLAYAN