[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder
L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
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 …
Rare coding variants in ten genes confer substantial risk for schizophrenia
Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …
[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 …
Chromosome conformation elucidates regulatory relationships in developing human brain
Three-dimensional physical interactions within chromosomes dynamically regulate gene
expression in a tissue-specific manner,,. However, the 3D organization of chromosomes …
expression in a tissue-specific manner,,. However, the 3D organization of chromosomes …
A spectral approach integrating functional genomic annotations for coding and noncoding variants
I Ionita-Laza, K McCallum, B Xu, JD Buxbaum - Nature genetics, 2016 - nature.com
Over the past few years, substantial effort has been put into the functional annotation of
variation in human genome sequences. Such annotations can have a critical role in …
variation in human genome sequences. Such annotations can have a critical role in …
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
Gene expression elucidates functional impact of polygenic risk for schizophrenia
Over 100 genetic loci harbor schizophrenia-associated variants, yet how these variants
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
confer liability is uncertain. The CommonMind Consortium sequenced RNA from …
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
By analyzing the whole-exome sequences of 4,264 schizophrenia cases, 9,343 controls and
1,077 trios, we identified a genome-wide significant association between rare loss-of …
1,077 trios, we identified a genome-wide significant association between rare loss-of …