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 …

Dynamic control of the actin and microtubule cytoskeletons underlie nearly every critical
process during neural development, and requires multiple dimensions of regulation …

Almost 25 years have passed since a mutation of a formin gene, DIAPH1, was identified as
being responsible for a human inherited disorder: a form of sensorineural hearing loss …

Dendritic spines represent the major site of neuronal activity in the brain; they serve as the
receiving point for neurotransmitters and undergo rapid activity-dependent morphological …

Background In children with sensory processing dysfunction (SPD), who do not meet criteria
for autism spectrum disorder (ASD) or intellectual disability, the contribution of de novo …

Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly
variable clinical phenotypes which include intellectual disability, autism, seizures …

Objectives We aimed to identify differentially methylated genes and related signaling
pathways in autism spectrum disorder (ASD). Methods First, the DNA methylation profile in …

We present the case of a child with mild non-syndromic intellectual disability in whom array
genomic hybridization revealed a de novo heterozygous deletion involving only one gene …

CHRM3 codes for the M3 muscarinic acetylcholine receptor that is located on the surface of
smooth muscle cells of the detrusor, the muscle that effects urinary voiding. Previously, we …

Background Corpus callosum malformations (CCM) represent one of the most common
congenital cerebral malformations with a prevalence of around one for 4000 births. There …