Genetic testing in neurodevelopmental disorders
Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
encountered in pediatric primary care. In addition to identifying appropriate descriptive …
Comprehensive evaluation of the child with intellectual disability or global developmental delays
Global developmental delay and intellectual disability are relatively common pediatric
conditions. This report describes the recommended clinical genetics diagnostic approach …
conditions. This report describes the recommended clinical genetics diagnostic approach …
The Database of Genomic Variants: a curated collection of structural variation in the human genome
Over the past decade, the Database of Genomic Variants (DGV; http://dgv. tcag. ca/) has
provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) …
provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) …
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …
these events are typically large, and the underlying causative genes are unclear. We …
Chromosomal microarray versus karyoty** for prenatal diagnosis
Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for
the evaluation of developmental delay and structural malformations in children. We aimed to …
the evaluation of developmental delay and structural malformations in children. We aimed to …
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders
Increased male prevalence has been repeatedly reported in several neurodevelopmental
disorders (NDs), leading to the concept of a" female protective model." We investigated the …
disorders (NDs), leading to the concept of a" female protective model." We investigated the …
Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
delay and autism to identify 253 candidate neurodevelopmental disease genes with an …
22q11. 2 deletion syndrome
Abstract 22q11. 2 deletion syndrome (22q11. 2DS) is the most common chromosomal
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic …
[HTML][HTML] Phenotypic heterogeneity of genomic disorders and rare copy-number variants
Background Some copy-number variants are associated with genomic disorders with
extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents …
extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents …