Scott W. Stuart, MD, MS; Casey H. King, BA; G. Shashidar Pai, MD Such observations emphasize the importance of clarifying the origin of a genetic variation by studying the parents for comparison. The ...

Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders ...

New York, NY—A large, multi-center clinical trial led by researchers from Columbia University Medical Center (CUMC) shows that a new genetic test resulted in significantly more clinically relevant ...

Esotropia and exotropia could have shared genetic risk factors based on findings that genetif duplications on chromosomes were risk factors for the diseases. Genetic duplications in the second, fourth ...

Large and rare duplications and deletions in a chromosome region known as 22q11.2 , which involves genes that regulate cardiac development, are linked to nonsyndromic bicuspid aortic valve disease.

A genetic test known as chromosomal microarray analysis (CMA) could help identify the cause of sudden infant death syndrome (SIDS) or its counterpart in older children, known as sudden unexplained ...

In a recent study published in the Genes journal, researchers assessed the impact of PARK2 duplication or microdeletion on neurological diseases such as Parkinson's. The Parkinson's disease 2 (PARK2) ...

Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, ...