The autism spectrum disorders (ASDs) are a group of conditions characterized by
impairments in reciprocal social interaction and communication, and the presence of …

Autoimmune diseases develop as a result of chronic inflammation owing to interactions
between genes and the environment. However, the mechanisms by which autoimmune …

Autism (MIM 209850) is a severe neuropsychiatric disorder of unknown aetiology with
profound consequences for patients and their families. Strong evidence from twin and family …

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants …

While it is apparent that rare variation can play an important role in the genetic architecture
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …

The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription
factor containing a polyglutamine tract and a forkhead domain. FOXP2 is mutated in a …

Synesthesia, a neurological condition affecting between 0.05%–1% of the population, is
characterized by anomalous sensory perception and associated alterations in cognitive …

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and
heterogeneous aetiology. It is primarily characterized by altered cognitive ability including …

Aims The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory
myopathy (IIM) research community. This inaugural report examines pooled Registry data …

Objectives The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare
autoimmune diseases characterised by muscle weakness and extramuscular manifestations …