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 …

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 = …

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 …

The use of spoken and written language is a fundamental human capacity. Individual
differences in reading- and language-related skills are influenced by genetic variation, with twin-…

Diabetes is a common age-dependent complication of cystic fibrosis (CF) that is strongly
influenced by modifier genes. We conducted a genome-wide association study in 3,059 …

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 existence of pleiotropy in disorders with multi-organ involvement can suggest therapeutic
targets that could ameliorate overall disease severity. Here we assessed pleiotropy of …