Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific
deletion of three base pairs, which results in the loss of a phenylalanine residue at amino …

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 …

We each contributed to the review according to our specialty. We selected the most informative
recent peer-reviewed literature (using tools such as MEDLINE, Embase and PubMed). …

… Janet A Buchanan, … Janet A Buchanan, … Citation: Caulfield T, McGuire AL, Cho M,
Buchanan JA, Burgess MM, Danilczyk U, et al. (2008) Research Ethics Recommendations …

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a
broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers …

Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …

Two developments have sparked new directions in the genetics-to-genomics transition for
research and medical applications: the advance of whole-genome assays by array or DNA …

Background Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric
condition, thought to have a significant genetic component. When onset occurs in childhood, …

BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
resource that integrates whole genome sequencing data and health information. We describe …

Autism spectrum disorder is a developmental condition of early childhood onset, which
impacts socio-communicative functioning and is principally genetic in etiology. Currently, more …