Epilepsy is one of the most common neurological disorders in humans with a prevalence of
1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal …

Repetitive DNA motifs are abundant in the genomes of various species and have the
capacity to adopt non-canonical (ie, non-B) DNA structures. Several non-B DNA structures …

In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features
of the MECP2 duplication syndrome, including considerations for the care of patients with …

Delta (1–4Hz) EEG power in non-rapid eye movement (NREM) sleep declines massively
during adolescence. This observation stimulated the hypothesis that during adolescence the …

While copy number variation (CNV) is an active area of research, de novo mutation rates
within human populations are not well characterized. By focusing on large (> 100 kbp) …

Since associations between complex diseases and common variants are typically weak, and
approaches to genotyping rare variants (eg by next-generation resequencing) multiply, there …

Research has implicated mutations in the gene for neurexin‐1 (NRXN1) in a variety of
conditions including autism, schizophrenia, and nicotine dependence. To our knowledge …

Background Recurrent microdeletions and microduplications of∼ 555 kb at 16p11. 2 confer
susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or …

The evidence for a human genetic component in susceptibility to tuberculosis (TB) is
incontrovertible. Quite apart from studies of rare disease events illustrating the importance of …

We used data from studies of copy-number variants (CNVs), single-gene associations,
growth-signaling pathways, and intermediate phenotypes associated with brain growth to …