Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …

The Dyslexia Debate examines how we use the term" dyslexia" and questions its efficacy as
a diagnosis. While many believe that a diagnosis of dyslexia will shed light on a reader's …

Many patients suffering from developmental disorders harbor submicroscopic deletions or
duplications that, by affecting the copy number of dosage-sensitive genes or disrupting …

Reduced fecundity, associated with severe mental disorders, places negative selection
pressure on risk alleles and may explain, in part, why common variants have not been found …

Laboratory evaluation of patients with developmental delay/intellectual disability, congenital
anomalies, and dysmorphic features has changed significantly in the last several years with …

The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions
encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of …

Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions
have been observed in genomic disorders. Recently, a chromosome catastrophe …

Background Since its debut in 2011, cell-free fetal DNA screening has undergone rapid
expansion with respect to both utilization and coverage. However, conclusive data regarding …

Copy number variation (CNV) has recently gained considerable interest as a source of
genetic variation likely to play a role in phenotypic diversity and evolution. Much effort has …