More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …

Neurons are highly susceptible to DNA damage accumulation due to their large energy
requirements, elevated transcriptional activity, and long lifespan. While newer research has …

Genetic mosaicism is the result of the accumulation of somatic mutations in the human
genome starting from the first postzygotic cell generation and continuing throughout the …

Human cleavage-stage embryos frequently acquire chromosomal aneuploidies during
mitosis due to unknown mechanisms. Here, we show that S phase at the 1-cell stage shows …

The neuronal genome is particularly sensitive to loss or attenuation of DNA repair, and many
neurological diseases ensue when DNA repair is impaired. It is well-established that the …

We analyzed 131 human brains (44 neurotypical, 19 with Tourette syndrome, 9 with
schizophrenia, and 59 with autism) for somatic mutations after whole genome sequencing to …

Understanding the exact molecular mechanisms involved in the aetiology of epileptogenic
pathologies with or without tumour activity is essential for improving treatment of drug …

Objective Drug‐resistant focal epilepsy is often caused by focal cortical dysplasias (FCDs).
The distribution of these lesions across the cerebral cortex and the impact of lesion location …

The structure of the human neocortex underlies species-specific traits and reflects intricate
developmental programs. Here we sought to reconstruct processes that occur during early …

Recent advances in genomics have revealed a wide spectrum of genetic variants
associated with neurodevelopmental disorders at an unprecedented scale. An increasing …