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Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders

American Journal of Human Genetics

Jun 26, 2012

Rui LuoDaniel H Geschwind

Abstract

Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored. Because brain tissue is not available from most samples, we interrogated gene expression in lymphoblasts from 244...read more

Mentioned in this Paper

Real-Time Polymerase Chain Reaction
Simple Lobule of Cerebellum
CORO1A gene
Biochemical Pathway
RBFOX1 gene
CLIP2 gene
DNA Copy Number Changes
Genome
Peripheral Blood
Pathogenic Organism
4
2
214
Paper Details
References
  • References56
  • Citations65
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  • References56
  • Citations65
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Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders

American Journal of Human Genetics

Jun 26, 2012

Rui LuoDaniel H Geschwind

PMID: 22726847

DOI: 10.1016/j.ajhg.2012.05.011

Abstract

Copy-number variants (CNVs) are a major contributor to the pathophysiology of autism spectrum disorders (ASDs), but the functional impact of CNVs remains largely unexplored. Because brain tissue is not available from most samples, we interrogated gene expression in lymphoblasts from 244...read more

Mentioned in this Paper

Real-Time Polymerase Chain Reaction
Simple Lobule of Cerebellum
CORO1A gene
Biochemical Pathway
RBFOX1 gene
CLIP2 gene
DNA Copy Number Changes
Genome
Peripheral Blood
Pathogenic Organism
4
2
214

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Epstein–Barr virus infections (ASM)

The Epstein-Barr virus or human herpesvirus 4 is a common virus in humans. It is best known as the cause of infectious mononucleosis, but is also associated with many malignancies and autoimmune disorders. Find the latest research on Epstein-Barr virus infection here.

Neurodevelopmental disorder

Neurodevelopmental disorders such as attention deficit hyperactivity disorder (adhd) and autism spectrum disorder, although most commonly considered in childhood, can be lifelong conditions. Here is the latest research.

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Paper Details
References
  • References56
  • Citations65
12345...
  • References56
  • Citations65
12345...

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