Developmental transcriptome data is a key to interpreting disease-associated mutations and
transcriptional changes. Novel approaches integrating the spatial and temporal dimensions …

An increasing number of genetic variants have been implicated in autism spectrum
disorders (ASDs), and the functional study of such variants will be critical for the elucidation …

Autism spectrum disorders (ASDs) are characterized by core domains: persistent deficits in
social communication and interaction; restricted, repetitive patterns of behavior, interests, or …

Several lines of indirect evidence, such as mutations or dysregulated expression of genes
related to cytoskeleton, have suggested that cytoskeletal dynamics, a process essential for …

Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa–
Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by …

The most frequent causes of Intellectual Disability (ID)/Autism Spectrum Disorders (ASDs)
are chromosomal abnormalities, genomic rearrangements and submicroscopic deletions …

Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-
q13, 16p11. 2 and 22q13 have been reported as the most frequent. These CNVs exhibit …

Background Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects
structures derived from the first and second pharyngeal arches, mainly resulting in …

ASD, mainly through disturbances in synaptic connectivity and plasticity. 1, 2 Most insights
into this pathomechanism came from ASD-related monogenic syndromes caused by loss of …

Introduction: Autism spectrum disorder (ASD) affects more than 1% of the population, and
there is no biomarker to diagnose this condition. Dysregulation of co-expressed gene …