6 Result(s)
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Article
T-cell receptor diversity in minimal change disease in the NEPTUNE study
Minimal change disease (MCD) is the major cause of childhood idiopathic nephrotic syndrome, which is characterized by massive proteinuria and debilitating edema. Proteinuria in MCD is typically rapidly reversi...
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Article
Open AccessTargeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants
Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for ...
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Article
Open AccessExome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
Autism spectrum disorders (ASDs) comprise a range of neurodevelopmental conditions of varying severity, characterized by marked qualitative difficulties in social relatedness, communication, and behavior. Desp...
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Open AccessAn X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. The skewed prevalence toward males and evidence suggestive of linkage to the X chromosome in some studie...
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Open AccessA noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
Genome-wide Association Studies (GWAS) have proved invaluable for the identification of disease susceptibility genes. However, the prioritization of candidate genes and regions for follow-up studies often prov...
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Novel variants identified in methyl-CpG-binding domain genes in autistic individuals
Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome. ...
