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The contribution of de novo coding mutations to autism spectrum disorder
We use the ascertainment differential as an estimate of contribution. Expand
A Phenotypic Profile of the Candida albicans Regulatory Network
Candida albicans is a normal resident of the gastrointestinal tract and also the most prevalent fungal pathogen of humans. It last shared a common ancestor with the model yeast Saccharomyces… Expand
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
INTRODUCTION The DNA of protein-coding genes is transcribed into mRNA, which is translated into proteins. The “coding genome” describes the DNA that contains the information to make these proteins… Expand
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
Whole-exome sequencing (WES) studies have demonstrated the contribution of de novo loss-of-function single-nucleotide variants (SNVs) to autism spectrum disorder (ASD). However, challenges in the… Expand
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
Genomic association studies of common or rare protein-coding variation have established robust statistical approaches to account for multiple testing. Here we present a comparable framework to… Expand
Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families
Genomic studies to date in autism spectrum disorder (ASD) have largely focused on newly arising mutations that disrupt protein coding sequence and strongly influence risk. We evaluate the… Expand
Correction: The neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and control of brain size in Xenopus embryos
There was an error in Development (2020) 147 , [dev189290] ([doi:10.1242/dev.189290]). In the author affiliations, affiliation 2 was incorrect. Corrected: 1Department of Psychiatry and… Expand
Neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and brain size in Xenopus embryos.
DYRK1A (dual specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A) is a high confidence autism risk gene that encodes a conserved kinase. In addition to autism, patients with putative loss… Expand
Autism risk factors identified in ? dark matter ? of human genome December 14 , 2018-11 : 59