Decoding neural transcriptomes and epigenomes via high-throughput sequencing.
Genetics
A genotype-first approach to defining the subtypes of a complex disease.
Facilitated sequence counting and assembly by template mutagenesis.
DAWN: A framework to identify autism genes and subnetworks using gene expression and genetics.
Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain.
Genome-wide antagonism between 5-hydroxymethylcytosine and DNA methylation in the adult mouse brain.
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
A general framework for estimating the relative pathogenicity of human genetic variants.
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
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