A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

The genetic basis of complex neurological disorders involving language are poorly
understood, partly due to the multiple additive genetic risk factors that are thought to be …

Background The aim of this work was to identify new genetic causes of Rett-like phenotypes
using array comparative genomic hybridisation and a whole exome sequencing approach …

The human transcription factor 4 gene (TCF4) encodes a helix–loop–helix transcription
factor widely expressed throughout the body and during neural development. Mutations in …

Craniosynostosis, the premature fusion of the cranial sutures, is a heterogeneous disorder
with a prevalence of∼ 1 in 2,200 (refs.,). A specific genetic etiology can be identified in∼ …

Myopia is the most common cause of visual impairment worldwide. Genetic and
environmental factors contribute to the development of myopia. Studies on the molecular …

Pitt‐Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by
intellectual disability, specific facial features, and marked autonomic nervous system …

Based on genomic rearrangements and copy number variations, the contactin-associated
protein-like 2 gene (CNTNAP2) has been implicated in neurodevelopmental disorders such …

Background Apparently balanced chromosomal rearrangements (ABCR) are associated
with an abnormal phenotype in 6% of cases. This may be due to cryptic genomic imbalances …

Summary Transcription Factor 4 (TCF4) is a clinically pleiotropic gene associated with
schizophrenia and Pitt-Hopkins syndrome (PTHS). To gain insight about the neurobiology of …