Purpose: Conflicting evidence about impairment of attention systems and the absence of a
working model of attention has contributed to lack of clarity about comorbidity of attention …

The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE
in its 2010 revision (Berg et al., ), nor are its members and boundaries precisely delineated. …

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD)
to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which …

Despite hope that a cure was imminent when the causative gene was cloned nearly 30 years
ago, cystic fibrosis (CF [MIM: 219700]) remains a life-shortening disease affecting more …

The identification of small molecules that target specific CFTR variants has ushered in a
new era of treatment for cystic fibrosis (CF), yet optimal, individualized treatment of CF will …

A combined genome-wide association and linkage study was used to identify loci causing
variation in cystic fibrosis lung disease severity. We identified a significant association (P = …

Endophenotypes or intermediate phenotypes are of great interest in neuropsychiatric genetics
because of their potential for facilitating gene discovery. We evaluated response inhibition…

Variants associated with meconium ileus in cystic fibrosis were identified in 3,763 affected
individuals by genome-wide association study (GWAS). Five SNPs at two loci near SLC6A14 …

Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3
and 12 years of age, boys more often than girls (3: 2). Focal sharp waves in the …