To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

Microarray‐based copy number analysis has found its way into routine clinical practice,
predominantly for the diagnosis of patients with unexplained mental retardation. However, the …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin 1 , 2 . The extensive genetic heterogeneity of this disorder requires a genome-…

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders 1 . However, genes known to be associated with developmental disorders account …

Many laboratories now use genomic microarrays as their first-tier diagnostic test for copy
number variation (CNV) detection. In addition, whole exome sequencing is increasingly being …

Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …

Both obesity and being underweight have been associated with increased mortality 1 , 2 .
Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m 2 in adults and ≤ −2 …

Submicroscopic genomic copy number changes have been identified only recently as an
important cause of mental retardation. We describe the detection of three interstitial, …

Mental retardation (MR) occurs in 2%–3% of the general population. Conventional karyotyping
has a resolution of 5–10 million bases and detects chromosomal alterations in ∼5% of …

Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental
retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of …