Finding the missing heritability of complex diseases
Genome-wide association studies have identified hundreds of genetic variants associated
with complex human diseases and traits, and have provided valuable insights into their …
with complex human diseases and traits, and have provided valuable insights into their …
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
DT Miller, MP Adam, S Aradhya, LG Biesecker… - The American Journal of …, 2010 - cell.com
Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders …
Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …
Genetic studies in intellectual disability and related disorders
Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …
A copy number variation morbidity map of developmental delay
To understand the genetic heterogeneity underlying developmental delay, we compared
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
copy number variants (CNVs) in 15,767 children with intellectual disability and various …
BreakDancer: an algorithm for high-resolution map** of genomic structural variation
Detection and characterization of genomic structural variation are important for
understanding the landscape of genetic variation in human populations and in complex …
understanding the landscape of genetic variation in human populations and in complex …
Structural variation in the human genome and its role in disease
During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …
Copy number variation in human health, disease, and evolution
Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …
are being identified with various genome analysis platforms, including array comparative …
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
C Betancur - Brain research, 2011 - Elsevier
There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …
CNVs: harbingers of a rare variant revolution in psychiatric genetics
D Malhotra, J Sebat - Cell, 2012 - cell.com
The genetic bases of neuropsychiatric disorders are beginning to yield to scientific inquiry.
Genome-wide studies of copy number variation (CNV) have given rise to a new …
Genome-wide studies of copy number variation (CNV) have given rise to a new …