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 …
Advancements in next-generation sequencing
The term next-generation sequencing is almost a decade old, but it remains the colloquial
way to describe highly parallel or high-output sequencing methods that produce data at or …
way to describe highly parallel or high-output sequencing methods that produce data at or …
[HTML][HTML] Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Identifying pathogenic variants and underlying functional alterations is challenging. To this
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …
end, we introduce MutPred2, a tool that improves the prioritization of pathogenic amino acid …
The contribution of de novo coding mutations to autism spectrum disorder
Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …
Genome sequencing identifies major causes of severe intellectual disability
C Gilissen, JY Hehir-Kwa, DT Thung, M Van De Vorst… - Nature, 2014 - nature.com
Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
component; however, for at least 70% of cases, the underlying genetic cause is unknown …
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
SJ Sanders, MT Murtha, AR Gupta, JD Murdoch… - Nature, 2012 - nature.com
Multiple studies have confirmed the contribution of rare de novo copy number variations to
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …
the risk for autism spectrum disorders,,. But whereas de novo single nucleotide variants …
[PDF][PDF] 10 years of GWAS discovery: biology, function, and translation
Application of the experimental design of genome-wide association studies (GWASs) is now
10 years old (young), and here we review the remarkable range of discoveries it has …
10 years old (young), and here we review the remarkable range of discoveries it has …
Dendritic structural plasticity and neuropsychiatric disease
MP Forrest, E Parnell, P Penzes - Nature Reviews Neuroscience, 2018 - nature.com
The structure of neuronal circuits that subserve cognitive functions in the brain is shaped
and refined throughout development and into adulthood. Evidence from human and animal …
and refined throughout development and into adulthood. Evidence from human and animal …
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Psychiatric disorders are among the most intractable enigmas in medicine. In the past 5
years, there has been unprecedented progress on the genetics of many of these conditions …
years, there has been unprecedented progress on the genetics of many of these conditions …