… Our own surveys of the phylum Mollusca have included the gastropod, Aplysia californica,
and the cephalopod, Octopus rubescens (MT Murtha, unpublished data). We have identified …

Several risk factors for Crohn's disease have been identified in recent genome-wide association
studies. To advance gene discovery further, we combined data from three studies on …

Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders 1 , 2 , 3 . But whereas de novo single nucleotide …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

Background: Coagulopathy and hemorrhage are known contributors to trauma mortality;
however, the actual relationship of prothrombin time (PT) and partial thromboplastin time (PTT) …

We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N =
2,591 families) replicates prior findings of strong association with autism spectrum disorders (…

Autism spectrum disorder (ASD) is a complex developmental syndrome of unknown etiology.
Recent studies employing exome- and genome-wide sequencing have identified nine high-…

Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease, with astrocytes implicated
as contributing substantially to motor neuron death in familial (F) ALS 1, 2, 3, 4, 5. However…

Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes
typified by impairments in reciprocal social interaction and communication, accompanied …