Structure, function, and pharmacology of glutamate receptor ion channels
Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
A genomic mutational constraint map using variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
been widely used to investigate protein-coding genes underlying human disorders,,–, but …
The mutational constraint spectrum quantified from variation in 141,456 humans
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the …
about the phenotypic consequences of gene disruption: genes that are crucial for the …
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism's …
about the phenotypic consequences of gene disruption: genes critical for an organism's …
Gene expression across mammalian organ development
M Cardoso-Moreira, J Halbert, D Valloton, B Velten… - Nature, 2019 - nature.com
The evolution of gene expression in mammalian organ development remains largely
uncharacterized. Here we report the transcriptomes of seven organs (cerebrum, cerebellum …
uncharacterized. Here we report the transcriptomes of seven organs (cerebrum, cerebellum …
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
S Petrovski, V Aggarwal, JL Giordano, M Stosic, K Wou… - The Lancet, 2019 - thelancet.com
Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …
associated with fetal structural anomalies has substantial value. Although whole-exome …
Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug …
Despite strong vetting for disease activity, only 10% of candidate new molecular entities in
early stage clinical trials are eventually approved. Analyzing historical pipeline data, Nelson …
early stage clinical trials are eventually approved. Analyzing historical pipeline data, Nelson …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …