A screen of 1,049 schizophrenia and 30 Alzheimer's‐associated variants for regulatory potential

Linear models enable powerful differential activity analysis in massively parallel reporter assays

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Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

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Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

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TFBSTools: an R/bioconductor package for transcription factor binding site analysis

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Functional Characterization of Schizophrenia-Associated Variation in CACNA1C

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Investigation of the Prenatal Expression Patterns of 108 Schizophrenia-Associated Genetic Loci

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STARR-seq — Principles and applications

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Decoding enhancers using massively parallel reporter assays

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SF3B1 Association with Chromatin Determines Splicing Outcomes

(2015) Nir Kfir et al.   Cell Reports

Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case–control sample of schizophrenia

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Biological insights from 108 schizophrenia-associated genetic loci

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Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay

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Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits

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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Linking disease associations with regulatory information in the human genome

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Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay

(2012) Alexandre Melnikov et al.   NATURE BIOTECHNOLOGY

Transcriptome Sequencing Revealed Significant Alteration of Cortical Promoter Usage and Splicing in Schizophrenia

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Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

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Aberrant regulation of alternative pre-mRNA splicing in schizophrenia

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Crystal structure of a novel JmjC-domain-containing protein, TYW5, involved in tRNA modification

(2010) Megumi Kato et al.   NUCLEIC ACIDS RESEARCH

Finding the missing heritability of complex diseases

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Genomic views of distant-acting enhancers

(2009) Axel Visel et al.   NATURE

Mapping complex disease traits with global gene expression

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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

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SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

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