Genetic variability in the regulation of gene expression in ten regions of the human brain.
- Authors
- Ramasamy, Adaikalavan; Trabzuni, Daniah; Guelfi, Sebastian; Varghese, Vibin; Smith, Colin; Walker, Robert; De, Tisham; UK Brain Expression Consortium; North American Brain Expression Consortium; Coin, Lachlan; de Silva, Rohan; Cookson, Mark R; Singleton, Andrew B; Hardy, John; Ryten, Mina; Weale, Michael E
- Year
- 2014
- Journal
- Nature neuroscience
- PMID
- 25174004
- DOI
- 10.1038/nn.3801
- PMCID
- PMC4208299
Germ-line genetic control of gene expression occurs via expression quantitative trait loci (eQTLs). We present a large, exon-specific eQTL data set covering ten human brain regions. We found that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons. Co-regulation analysis of shared eQTL signals produced well-defined modules of region-specific co-regulated genes, in contrast to standard coexpression analysis of the same samples. We report cis-eQTL signals for 23.1% of catalogued genome-wide association study hits for adult-onset neurological disorders. The data set is publicly available via public data repositories and via http://www.braineac.org/. Our study increases our understanding of the regulation of gene expression in the human brain and will be of value to others pursuing functional follow-up of disease-associated variants.
Unsupervised hierarchical clustering of cis-eQTL signals and related expression data.(a) Heat plot and dendrograms based on unsupervised hierarchical clustering of absolute z scores of all cis-eQTL signals across all ten brain regions. (b) Heat plot and unsupervised hierarchical clustering of mean expression in a brain region for the equivalent expression data (expression IDs targeted by all cis-eQTL signals identified). Column dendrograms for the two panels were very similar, so b has been ordered according to the column dendrogram in a. The row dendrogram in b was indistinct, so it has not been colored by clade. SNIG, substantia nigra; PUTM, putamen (at the level of the anterior commissure); MEDU, the inferior olivary nucleus (sub-dissected from the medulla); THAL, thalamus (at the level of the lateral geniculate nucleus); OCTX, occipital cortex; HIPP, hippocampus; FCTX, frontal cortex; TCTX, temporal cortex; WHMT, intralobular white matter; CRBL, cerebellar cortex.
Regional characterization of cis-eQTL signals.(a) cis-eQTL signals identified in multiple brain regions, and the proportion of these also identified using average-all (aveALL). (b) cis-eQTL signals classified by brain region. See Figure 1 legend for brain region codes.
Regional characterization examples.(a) Example of a pan-regional cis-eQTL signal. ATP5G2 transcript 3456313 was highly expressed in all brain regions (left) and rs12818213 was a consistent eQTL signal (right). (b) Example of a region-specific cis-eQTL signal. PPAPDC1A transcript 3267563 was highly expressed in all brain regions, including cerebellum (left), but rs10788102 was an eQTL signal in cerebellum only (right). (c) Second example of a region-specific cis-eQTL signal. ADAMTS18 transcript 3700158 was highly expressed in all brain regions, especially cerebellum (left), but rs4888622 was seen as an eQTL signal in all regions except cerebellum (right). See Figure 1 legend for brain region codes.
Region-specific gene switching example.rs73009150 was a cis-eQTL signal with (a) RNF214 probe set 3350857 in medulla, (b) PAFAH1B2 probe set 3350766 in cerebellum and (c) IK3 probe set 3393006 in putamen. See Figure 1 legend for brain region codes.
Exon-level characterization of cis-eQTL signals.(a) Example of a consistent gene-level cis-eQTL signal. rs4753547 was a significant eQTL for all five probe sets in GPR83, which has two recognized alternatively spliced isoforms. (b) Example of a significantly heterogeneous exon-specific cis-eQTL signal. The cis-eQTL signal for rs10986468 was evident for three probe sets out of nine covering ARPC5L in cerebellum (CRBL). These probe sets mapped to three consecutive exons and were unique to one of the three recognized alternatively spliced isoforms from this gene, namely ARPC5L-002. (c) Distribution of gene-level and exon-level cis-eQTL signals by distance from the target transcription start site. (d) Enrichment of gene-level and exon-specific cis-eQTL signals, stratified by their location with respect to their gene of action. Error bars represent s.e.m.
Functional characterization by location of sentinel in relation to its target gene.Data were restricted to cis-eQTL signals that showed evidence of replication in independent data sets (Supplementary Table 3). (a) Enrichment of cis-eQTL signals relative to all markers in the data set, stratified by their location with respect to their gene of action. (b) Enrichment of cis-eQTL signals located within their target gene (internal) or within a different gene (external), stratified by their location within the gene. (c) The relationship of cis-eQTL signal locations to their target genes.
Examples of GWAS hits that were cis-eQTL signals.(a) Association of local markers (left) and specifically rs2395163 (right), a risk SNP for Parkinsonβs disease32, with exon 3 (probe set 2903265) of HLA-DQA2 in average-all (aveALL). (b) Association of local markers (left) and specifically rs12608932 (right), a risk SNP for ALS33, with the 3β² UTR (probe set 3824686) of KCNN1 in frontal cortex (FCTX). (c) Association of local markers (left) and specifically rs1051730 (right), a synonymous coding SNP located in CHRNA3 and a risk SNP for lung cancer, smoking behavior and nicotine dependence, with CHRNA5 (transcript 3603436) in average-all. (d) Association of local markers (left) and specifically rs3768716 (right), a risk SNP for neuroblastoma, with BARD1 (transcript 2598099) in average-all.
| Name | Type |
|---|---|
| 1000 Genomes Project | cohort |
| ADAMTS18 local | gene |
| adult-onset neurological disorder local | phenotype |
| adult-onset neurological disorders local | phenotype |
| Affymetrix Exon 1.0 ST arrays local | drug |
| Affymetrix exon array platform local | drug |
| Affymetrix GeneChip Whole Transcript Sense Target Labeling Assay local | drug |
| Affymetrix Human Exon 1.0 ST array | drug |
| Affymetrix Human Exon 1.0 ST arrays local | drug |
| Affymetrix transcript IDs local | drug |
| Agilent 2100 Bioanalyzer | drug |
| ALS | phenotype |
| Alzheimerβs disease | phenotype |
| Ambion WT Expression kit | drug |
| ARPC5L local | gene |
| array probe local | drug |
| associated region local | anatomy |
| ataxia | phenotype |
| AU_rich_elements local | drug |
| autoimmune diseases | phenotype |
| average-all local | anatomy |
| BARD1 local | gene |
| BAT3 | gene |
| bipolar disorder | phenotype |
| brain | anatomy |
| brain-related phenotypes | phenotype |
| BRCA1 | gene |
| CACNA1A | gene |
| cerebellar ataxia local | phenotype |
| cerebellar cortex | anatomy |
| cerebellum | anatomy |
| Chrna3 | gene |
| CHRNA5 | gene |
| Chrnb4 | gene |
| cis-eQTL | cohort |
| cis-eQTL sentinel marker local | variant |
| cis-eQTL signal local | phenotype |
| cis-eQTL signal local | variant |
| cis-eQTL signals local | phenotype |
| cis-eQTL signals local | variant |
| CNV | variant |
| coding_region local | drug |
| cortical brain regions local | anatomy |
| CR1 | gene |
| Crohnβs disease | phenotype |
| DNA | drug |
| eQTL signal local | cohort |
| eQTL signal local | phenotype |
| eQTL signals local | variant |
| European ancestry | cohort |
| European ancestry cohort (304 individuals) local | cohort |
| European panel of the 1000 Genomes Project local | cohort |
| European population | cohort |
| exon local | gene |
| exon-level signal local | drug |
| exon-specific signal local | phenotype |
| expression ID local | gene |
| external_cis_eQTL local | variant |
| Free of any neuropathological disorder local | phenotype |
| frontal cortex | anatomy |
| fronto-temporal dementia local | phenotype |
| gene | gene |
| gene expression | phenotype |
| gene-level signal local | drug |
| gene-level signal local | phenotype |
| German individuals local | cohort |
| glutamate | drug |
| Golgi apparatus local | phenotype |
| GPR83 local | gene |
| GSE30483 local | cohort |
| GWAS | cohort |
| GWAS-eQTL signal local | variant |
| GWAS hit local | variant |
| GWAS hits local | phenotype |
| GWAS hits local | variant |
| HapMap3 Populations local | cohort |
| height | phenotype |
| Heinzen et al.14 local | cohort |
| Heinzen et al.14 data set local | cohort |
| Heinzen et al.14 Study local | cohort |
| hippocampus | anatomy |
| HLA-DQA2 | gene |
| human brain | anatomy |
| Human Genome Build 19 local | drug |
| Human HT12v3 Expression BeadChips local | drug |
| human post-mortem brain tissue local | anatomy |
| Human postmortem brain tissue local | anatomy |
| Illumina HT12v3 arrays local | drug |
| Illumina Infinium HumanHap550 Chip local | drug |
| Illumina Infinium Omni1-Quad BeadChip local | drug |
| Illumina Omni1-quad local | drug |
| Illumina probe IDs local | drug |
| Illumina TotalPrep-96 RNA amplification kit | drug |
| Immunochip | drug |
| Immunochip arrays local | drug |
| indel | variant |
| inferior olivary nucleus local | anatomy |
| internal_cis_eQTL local | variant |
| intracellular organelle lumen local | phenotype |
| intralobular white matter | anatomy |
| ischemic heart disease | phenotype |
| ITPR1 | gene |
| Kcnn1 | gene |
| large CNVs (>100 kb) local | variant |
| lung cancer | phenotype |
| lysosome | drug |
| MaCH | drug |
| marker | variant |
| Medical Research Council Sudden Death Brain and Tissue Bank local | cohort |
| medulla | anatomy |
| microRNA_binding_sites local | drug |
| minimac3 | drug |
| miRNeasy 96 kit | drug |
| monocytes local | anatomy |
| monocytes | cohort |
| multiple sclerosis | phenotype |
| NABEC local | cohort |
| neuroblastoma | phenotype |
| Neurologically normal | phenotype |
| Neuropathologically normal local | phenotype |
| neuroscience community local | cohort |
| NHGRI-EBI GWAS catalog | cohort |
| nicotine dependence | phenotype |
| North American Brain Expression Consortium (NABEC) local | cohort |
| occipital cortex | anatomy |
| PAFAH1B2 local | gene |
| pan-regional cis-eQTL local | variant |
| Parkinsonβs disease | phenotype |
| post-mortem brain cohort local | cohort |
| post-mortem tissue local | phenotype |
| PPADC1A local | gene |
| pQTL | variant |
| promoter | drug |
| putamen | anatomy |
| Qiagen DNeasy Blood & Tissue Kit local | drug |
| Qiagen Protocols local | drug |
| recombination hotspot local | anatomy |
| regionally heterogeneous cis-eQTL local | variant |
| ReMOAT local | drug |
| replication sample | cohort |
| RNA | drug |
| RNA 6000 Nano Kit local | drug |
| RNA-seq | drug |
| RNF214 local | gene |
| rs1051730 | variant |
| rs10788102 local | variant |
| rs10986468 local | variant |
| rs12608932 local | variant |
| rs2395163 local | variant |
| rs3768716 local | variant |
| rs3818361 local | variant |
| rs4753547 local | variant |
| rs48888622 local | variant |
| rs73009150 local | variant |
| SIK3 local | gene |
| smoking behavior | phenotype |
| SNP | cohort |
| Subsignal local | cohort |
| substantia nigra | anatomy |
| Sun Health Research Institute local | cohort |
| target gene | gene |
| temporal cortex | anatomy |
| thalamus | anatomy |
| tissue | anatomy |
| transcript ID local | gene |
| Transcript ID local | gene |
| trans-eQTL | cohort |
| trans-eQTL signals local | variant |
| true causal variants local | variant |
| type 2 diabetes | phenotype |
| UKBEC local | cohort |
| UNC13A local | gene |
| UTR local | drug |
| white matter | anatomy |
| X local | gene |
| Y local | gene |
| yeast | cohort |
| Zeller et al. | cohort |
| Zeller et al.25 local | cohort |
No uploaded files.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Associations of air pollution and genetic risk and their interaction with risk of Alzheimer's disease: identification of risk loci and potential biological pathways. | Ran S et al. | β | 2026 | β |
| Convergent genetic pathways linking neuropsychiatric and ocular disorders in children. | Pan M et al. | β | 2026 | β |
| Functional characterization of a human epilepsy-associated gene network reveals metabolic regulation as a critical factor underlying seizure susceptibilities. | Long J et al. | β | 2026 | β |
| A genetically informed brain atlas for enhancing brain imaging genomics. | Bao J et al. | β | 2025 | β |
| A Genome-Wide Association Study of First-Episode Psychosis: A Genetic Exploration in an Italian Cohort. | Treccani M et al. | β | 2025 | β |
| Analytical Review on Normal Brain Aging, Alzheimer's Disease, and Stage 4S Neuroblastoma: Novel Insights Into Neuroprotection, Neurodegeneration, and Spontaneous Regression. | Aygun N | β | 2025 | β |
| An integrative systems-biology approach defines mechanisms of Alzheimer's disease neurodegeneration. | Leventhal MJ et al. | β | 2025 | β |
| A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases. | Yang J et al. | β | 2025 | β |
| Association of the GRIK4 rs1954787 polymorphism with clinical response in antidepressant-treated depressed patients: results from a prospective cohort and meta-analysis. | Chappell K et al. | β | 2025 | β |
| Dosage effect of copy number variation in epilepsy and ten regions of the human brain. | De T et al. | β | 2025 | β |
| Early establishment and life course stability of sex biases in the human brain transcriptome. | Benoit-Pilven C et al. | β | 2025 | β |
| Enhanced plasma and brain concentrations and medulloblastoma cytotoxicity of asciminib and nilotinib by P-glycoprotein inhibition with tariquidar. | Thompson EM et al. | β | 2025 | β |
| Exploring the Genetic Underpinnings of Diffusion Tensor Image Analysis Along the Perivascular Space: A Genome-Wide Correlation Study and Implications for Brain Health. | Wu J et al. | β | 2025 | β |
| Genetic Markers of Postmortem Brain Iron. | Cornelis MC et al. | β | 2025 | β |
| Genetic regulation of lncRNA expression in whole human brain and their contribution to CNS disorders. | He Y et al. | β | 2025 | β |
| Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking. | He W et al. | β | 2025 | β |
| Local cortical structure pattern and genetic links in schizophrenia: An MRI and CRISPR/Cas9 study. | Hou PS et al. | β | 2025 | β |
| Measurement characteristics and genome-wide correlates of lifetime brain atrophy estimated from a single MRI. | FΓΌrtjes AE et al. | β | 2025 | β |
| Motor learning is regulated by postnatal GDNF levels in Purkinje cells. | Nagaeva E et al. | β | 2025 | β |
| Repurposing the memory-promoting meclofenoxate hydrochloride as a treatment for Parkinson's disease through integrative multi-omics analysis. | Zhang H et al. | β | 2025 | β |
| Sex-stratified genome-wide association meta-analysis of major depressive disorder. | Thomas JT et al. | β | 2025 | β |
| Sex-stratified genome-wide meta-analysis identifies novel loci for cognitive decline in older adults. | Acharya V et al. | β | 2025 | β |
| Sociodemographic factors predict outcomes and reveal spatial tumor patterns in glioblastoma. | Luckett PH et al. | β | 2025 | β |
| The brief resilience scale: a genome-wide association study in the UK Biobank. | Cornelis MC et al. | β | 2025 | β |
| Unveiling the clinical and genetic impact of neuropsychiatric involvement in systemic lupus erythematosus. | Cha S et al. | β | 2025 | β |
| A genetic and transcriptomic assessment of the KTN1 gene in Parkinson's disease risk. | Moore A et al. | β | 2024 | β |
| Associations between antagonistic SNPs for neuropsychiatric disorders and human brain structure. | Federmann LM et al. | β | 2024 | β |
| A systems biology-based identification and inΒ vivo functional screening of Alzheimer's disease risk genes reveal modulators of memory function. | Hudgins AD et al. | β | 2024 | β |
| Bayesian mixed model inference for genetic association under related samples with brain network phenotype. | Tian X et al. | β | 2024 | β |
| Comprehensive analysis of genetic risk loci uncovers novel candidate genes and pathways in the comorbidity between depression and Alzheimer's disease. | Hofstra BM et al. | β | 2024 | β |
| Cross-continental environmental and genome-wide association study on children and adolescent anxiety and depression. | Thapaliya B et al. | β | 2024 | β |
| Deep Trans-Omic Network Fusion for Molecular Mechanism of Alzheimer's Disease. | Xie L et al. | β | 2024 | β |
| Genetic architectures of cerebral ventricles and their overlap with neuropsychiatric traits. | Ge YJ et al. | β | 2024 | β |
| Genetic factors associated with suicidal behaviors and alcohol use disorders in an American Indian population. | Peng Q et al. | β | 2024 | β |
| Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. | Nievergelt CM et al. | β | 2024 | β |
| Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis. | Liu X et al. | β | 2024 | β |
| Identification of an novel genetic variant associated with osteoporosis: insights from the Taiwan Biobank Study. | Liaw YC et al. | β | 2024 | β |
| Identification of potential crucial genes and therapeutic targets for epilepsy. | Wang S et al. | β | 2024 | β |
| Microglia contribute to the production of the amyloidogenic ABri peptide in familial British dementia. | Arber C et al. | β | 2024 | β |
| Microglial CD2AP deficiency exerts protection in an Alzheimer's disease model of amyloidosis. | Zhang L et al. | β | 2024 | β |
| NEK4 modulates circadian fluctuations of emotional behaviors and synaptogenesis in male mice. | Yang ZH et al. | β | 2024 | β |
| Risk factors associated with age at onset of Parkinson's disease in the UK Biobank. | Huang Y et al. | β | 2024 | β |
| Subset-based method for cross-tissue transcriptome-wide association studies improves power and interpretability. | Guo X et al. | β | 2024 | β |
| The genetic architecture of the human hypothalamus and its involvement in neuropsychiatric behaviours and disorders. | Chen SD et al. | β | 2024 | β |
| The Role of 3' Regulatory Region Flanking Kinectin 1 Gene in Schizophrenia. | Guo X et al. | β | 2024 | β |
| Unveiling the role of phytochemicals in autism spectrum disorder by employing network pharmacology and molecular dynamics simulation. | Thapliyal A et al. | β | 2024 | β |
| A genome-wide association study identifies a new variant associated with word reading fluency in Chinese children. | Wang Z et al. | β | 2023 | β |
| Analysis of subcellular RNA fractions demonstrates significant genetic regulation of gene expression in human brain post-transcriptionally. | D'Sa K et al. | β | 2023 | β |
| A novel risk variant block across introns 36-45 of CACNA1C for schizophrenia: a cohort-wise replication and cerebral region-wide validation study. | Guo X et al. | β | 2023 | β |
| A significant, functional and replicable risk KTN1 variant block for schizophrenia. | Mao Q et al. | β | 2023 | β |
| Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases. | de Klein N et al. | β | 2023 | β |
| Clinical effects of novel susceptibility genes for beta-amyloid: a gene-based association study in the Korean population. | Kim BH et al. | β | 2023 | β |
| Deciphering the genetic architecture of human brain structure and function: a brief survey on recent advances of neuroimaging genomics. | Zhao X et al. | β | 2023 | β |
| Examining the biological mechanisms of human mental disorders resulting from gene-environment interdependence using novel functional genomic approaches. | Silveira PP et al. | β | 2023 | β |
| Genetic underpinnings of brain structural connectome for young adults. | Zhao Y et al. | β | 2023 | β |
| Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population. | Pan H et al. | β | 2023 | β |
| Impact of miR-200b and miR-495 variants on the risk of large-artery atherosclerosis stroke. | Qin S et al. | β | 2023 | β |
| Inferring cell-type-specific causal gene regulatory networks during human neurogenesis. | AygΓΌn N et al. | β | 2023 | β |
| Investigating Causality and Shared Genetic Architecture between Neurodegenerative Disorders and Inflammatory Bowel Disease. | Zeng R et al. | β | 2023 | β |
| Male-specific, replicable and functional roles of genetic variants and cerebral gray matter volumes in ADHD: a gene-wide association study across KTN1 and a region-wide functional validation across brain. | Luo X et al. | β | 2023 | β |
| Morphometric dis-similarity between cortical and subcortical areas underlies cognitive function and psychiatric symptomatology: a preadolescence study from ABCD. | Wu X et al. | β | 2023 | β |
| Neurodevelopmental risk and adaptation as a model for comorbidity among internalizing and externalizing disorders: genomics and cell-specific expression enriched morphometric study. | Kuang N et al. | β | 2023 | β |
| Pleiotropy analysis between lobar intracerebral hemorrhage and CSF Ξ²-amyloid highlights new and established associations. | Marini S et al. | β | 2023 | β |
| Proteomics analysis of plasma from middle-aged adults identifies protein markers of dementia risk in later life. | Walker KA et al. | β | 2023 | β |
| Reduced Vrk2 expression is associated with higher risk of depression in humans and mediates depressive-like behaviors in mice. | Yin MY et al. | β | 2023 | β |
| RegVar: Tissue-specific Prioritization of Non-coding Regulatory Variants. | Lu H et al. | β | 2023 | β |
| Robust differences in cortical cell type proportions across healthy human aging inferred through cross-dataset transcriptome analyses. | Chen Y et al. | β | 2023 | β |
| Shared genetic architecture between attention-deficit/hyperactivity disorder and lifespan. | Vilar-RibΓ³ L et al. | β | 2023 | β |
| The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism. | Xia C et al. | β | 2023 | β |
| The Genetic Architectures of Functional and Structural Connectivity Properties within Cerebral Resting-State Networks. | Tissink E et al. | β | 2023 | β |
| Three-dimensional chromatin architecture datasets for aging and Alzheimer's disease. | Meng G et al. | β | 2023 | β |
| A genome-wide association study identified one variant associated with static spatial working memory in Chinese population. | Zhang L et al. | β | 2022 | β |
| Are Alzheimer's and coronary artery diseases genetically related to longevity? | Bellou E et al. | β | 2022 | β |
| Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes. | Dugan AJ et al. | β | 2022 | β |
| Association of SPI1 Haplotypes with Altered SPI1 Gene Expression and Alzheimer's Disease Risk. | Cao H et al. | β | 2022 | β |
| ATAD3B and SKIL polymorphisms associated with antipsychotic-induced QTc interval change in patients with schizophrenia: a genome-wide association study. | Lu Z et al. | β | 2022 | β |
| Biovalue in Human Brain Banking: Applications and Challenges for Research in Neurodegenerative Diseases. | Vedam-Mai V | β | 2022 | β |
| Different responses to risperidone treatment in Schizophrenia: a multicenter genome-wide association and whole exome sequencing joint study. | Zhao M et al. | β | 2022 | β |
| Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1. | Restuadi R et al. | β | 2022 | β |
| Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against Ξ±-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells. | McCarthy E et al. | β | 2022 | β |
| Genetic analysis of dietary intake identifies new loci and functional links with metabolic traits. | Merino J et al. | β | 2022 | β |
| Genetic Association Between Epigenetic Aging-Acceleration and the Progression of Mild Cognitive Impairment to Alzheimer's Disease. | Liu H et al. | β | 2022 | β |
| Genetic Determinants of Survival in Parkinson's Disease in the Asian Population. | Li C et al. | β | 2022 | β |
| Genetic Relationships between Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Intelligence. | Rao S et al. | β | 2022 | β |
| Genetic variants associated with longitudinal changes in brain structure across the lifespan. | Brouwer RM et al. | β | 2022 | β |
| Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles. | Hautakangas H et al. | β | 2022 | β |
| Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium. | Grover S et al. | β | 2022 | β |
| Genome-wide association study for systemic lupus erythematosus in an egyptian population. | Elghzaly AA et al. | β | 2022 | β |
| Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health. | Tissink E et al. | β | 2022 | β |
| Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning. | Lahti J et al. | β | 2022 | β |
| Integrative omics analysis identifies differential biological pathways that are associated with regional grey matter volume changes in major depressive disorder. | Sha Z et al. | β | 2022 | β |
| Interaction analysis between germline genetic variants and somatic mutations in head and neck cancer. | Feng G et al. | β | 2022 | β |
| Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis. | Pudjihartono M et al. | β | 2022 | β |
| MEF2C gene variations are associated with ADHD in the Chinese Han population: a case-control study. | Fu X et al. | β | 2022 | β |
| Microglia in Alzheimer's Disease: a Key Player in the Transition Between Homeostasis and Pathogenesis. | McFarland KN et al. | β | 2022 | β |
| Molecular Quantitative Trait Locus Mapping in Human Complex Diseases. | Olayinka OA et al. | β | 2022 | β |
| NME1 Protects Against Neurotoxin-, Ξ±-Synuclein- and LRRK2-Induced Neurite Degeneration in Cell Models of Parkinson's Disease. | Anantha J et al. | β | 2022 | β |
| Overlapping common genetic architecture between major depressive disorders and anxiety and stress-related disorders. | Mei L et al. | β | 2022 | β |
| Oxytocin receptor expression patterns in the human brain across development. | Rokicki J et al. | β | 2022 | β |
| Promoter Specific Methylation of <i>SSTR4</i> is Associated With Alcohol Dependence in Han Chinese Males. | Zhao R et al. | β | 2022 | β |
| Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci. | Soutar MPM et al. | β | 2022 | β |
| Shared genetic links between frontotemporal dementia and psychiatric disorders. | Li C et al. | β | 2022 | β |
| The genetic architecture of language functional connectivity. | Mekki Y et al. | β | 2022 | β |
| Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders. | Doostparast Torshizi A et al. | β | 2022 | β |
| Treatment Response and GWAS Risk Allele rs2514218 (C) of the Dopamine D2 Receptor Gene in Inpatients with Schizophrenia. | Morozova MA et al. | β | 2022 | β |
| Advances in protein-protein interaction network analysis for Parkinson's disease. | Tomkins JE et al. | β | 2021 | β |
| A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease. | Wightman DP et al. | β | 2021 | β |
| Allele-specific expression of Parkinson's disease susceptibility genes in human brain. | Langmyhr M et al. | β | 2021 | β |
| Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease. | Brown EE et al. | β | 2021 | β |
| Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study. | Dugan AJ et al. | β | 2021 | β |
| A pH-eQTL Interaction at the <i>RIT2</i>-<i>SYT4</i> Parkinson's Disease Risk Locus in the Substantia Nigra. | Patel S et al. | β | 2021 | β |
| Association Between ZNF804A Gene rs1344706 Polymorphism and Brain Functions in Healthy Individuals: A Systematic Review and Voxel-Based Meta-Analysis. | Yang L et al. | β | 2021 | β |
| Associations of Alzheimer's disease risk variants with gene expression, amyloidosis, tauopathy, and neurodegeneration. | Tan MS et al. | β | 2021 | β |
| CoExp: A Web Tool for the Exploitation of Co-expression Networks. | GarcΓa-Ruiz S et al. | β | 2021 | β |
| Common genetic substrates of alcohol and substance use disorder severity revealed by pleiotropy detection against GWAS catalog in two populations. | Peng Q et al. | β | 2021 | β |
| Common X-Chromosome Variants Are Associated with Parkinson Disease Risk. | Le Guen Y et al. | β | 2021 | β |
| Deep learning model reveals potential risk genes for ADHD, especially Ephrin receptor gene EPHA5. | Liu L et al. | β | 2021 | β |
| Discovery of new genetic loci for male sexual orientation in Han population. | Hu SH et al. | β | 2021 | β |
| Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome. | Douard E et al. | β | 2021 | β |
| Ethnicity-dependent effects of Zinc finger 804A variant on schizophrenia: a systematic review and meta-analysis. | Wang D et al. | β | 2021 | β |
| Evaluation of Genotype-Based Gene Expression Model Performance: A Cross-Framework and Cross-Dataset Study. | Tavares V et al. | β | 2021 | β |
| Family-based association study identifies SNAP25 as a susceptibility gene for autism in the Han Chinese population. | Wang Z et al. | β | 2021 | β |
| Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease. | Heckman MG et al. | β | 2021 | β |
| Gene-environment correlations and causal effects of childhood maltreatment on physical and mental health: a genetically informed approach. | Warrier V et al. | β | 2021 | β |
| Genetic control of the human brain proteome. | Robins C et al. | β | 2021 | β |
| Genetic loci shared between major depression and intelligence with mixed directions of effect. | Bahrami S et al. | β | 2021 | β |
| Genetic Modifiers of Age at Onset for Parkinson's Disease in Asians: A Genome-Wide Association Study. | Li C et al. | β | 2021 | β |
| Genetic underpinnings of affective temperaments: a pilot GWAS investigation identifies a new genome-wide significant SNP for anxious temperament in ADGRB3 gene. | Gonda X et al. | β | 2021 | β |
| Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability. | Huguet G et al. | β | 2021 | β |
| Genome-wide association study identifies susceptibility loci of brain atrophy to NFIA and ST18 in Alzheimer's disease. | Kim BH et al. | β | 2021 | β |
| Genome-wide association study of stimulant dependence. | Cox J et al. | β | 2021 | β |
| Genome-wide genetic links between amyotrophic lateral sclerosis and autoimmune diseases. | Li CY et al. | β | 2021 | β |
| Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorder. | Fears SC et al. | β | 2021 | β |
| Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. | Gharahkhani P et al. | β | 2021 | β |
| GWA-based pleiotropic analysis identified potential SNPs and genes related to type 2 diabetes and obesity. | Zeng Y et al. | β | 2021 | β |
| Heritability Enrichment Implicates Microglia in Parkinson's Disease Pathogenesis. | Andersen MS et al. | β | 2021 | β |
| Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets. | Kia DA et al. | β | 2021 | β |
| Identification of Distant Regulatory Elements Using Expression Quantitative Trait Loci Mapping for Heat-Responsive Genes in Oysters. | Zhang K et al. | β | 2021 | β |
| Identifying drug targets for neurological and psychiatric disease via genetics and the brain transcriptome. | Baird DA et al. | β | 2021 | β |
| Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism. | Laabs BH et al. | β | 2021 | β |
| Insilico Functional Analysis of Genome-Wide Dataset From 17,000 Individuals Identifies Candidate Malaria Resistance Genes Enriched in Malaria Pathogenic Pathways. | Damena D et al. | β | 2021 | β |
| Integration of functional genomics data to uncover cell type-specific pathways affected in Parkinson's disease. | Volpato V | β | 2021 | β |
| Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders. | Yao X et al. | β | 2021 | β |
| Integrative-omics for discovery of network-level disease biomarkers: a case study in Alzheimer's disease. | Xie L et al. | β | 2021 | β |
| Large-scale GWAS reveals genetic architecture of brain white matter microstructure and genetic overlap with cognitive and mental health traits (nβ=β17,706). | Zhao B et al. | β | 2021 | β |
| Large-scale plasma proteomic analysis identifies proteins and pathways associated with dementia risk. | Walker KA et al. | β | 2021 | β |
| LMK235, a small molecule inhibitor of HDAC4/5, protects dopaminergic neurons against neurotoxin- and Ξ±-synuclein-induced degeneration in cellular models of Parkinson's disease. | Mazzocchi M et al. | β | 2021 | β |
| <i>SCFD1</i> expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed. | Iacoangeli A et al. | β | 2021 | β |
| Modeling multifunctionality of genes with secondary gene co-expression networks in human brain provides novel disease insights. | SΓ‘nchez JA et al. | β | 2021 | β |
| Multi-ethnic GWAS and meta-analysis of sleep quality identify MPP6 as a novel gene that functions in sleep center neurons. | Khoury S et al. | β | 2021 | β |
| Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy. | Davis BH et al. | β | 2021 | β |
| Predictability of polygenic risk score for progression to dementia and its interaction with APOE Ξ΅4 in mild cognitive impairment. | Pyun JM et al. | β | 2021 | β |
| Prediction of Alzheimer's disease using multi-variants from a Chinese genome-wide association study. | Jia L et al. | β | 2021 | β |
| Rare Functional Variants Associated with Antidepressant Remission in Mexican-Americans: Short title: Antidepressant remission and pharmacogenetics in Mexican-Americans. | Wong ML et al. | β | 2021 | β |
| Regional brain iron and gene expression provide insights into neurodegeneration in Parkinson's disease. | Thomas GEC et al. | β | 2021 | β |
| rs1990622 variant associates with Alzheimer's disease and regulates TMEM106B expression in human brain tissues. | Hu Y et al. | β | 2021 | β |
| Schizophrenia-associated gene dysbindin-1 and tardive dyskinesia. | Maes MS et al. | β | 2021 | β |
| Sex-specific DNA methylation differences in Alzheimer's disease pathology. | Zhang L et al. | β | 2021 | β |
| Signatures of TSPAN8 variants associated with human metabolic regulation and diseases. | De T et al. | β | 2021 | β |
| Significant, replicable, and functional associations between KTN1 variants and alcohol and drug codependence. | Luo X et al. | β | 2021 | β |
| Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma. | Carrera C et al. | β | 2021 | β |
| Symptom-level modelling unravels the shared genetic architecture of anxiety and depression. | Thorp JG et al. | β | 2021 | β |
| The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study. | Giannakopoulou O et al. | β | 2021 | β |
| The genetic architecture of structural left-right asymmetry of the human brain. | Sha Z et al. | β | 2021 | β |
| Transcriptome-wide association studies: a view from Mendelian randomization. | Zhu H et al. | β | 2021 | β |
| Virtual Histology of Cortical Thickness and Shared Neurobiology in 6 Psychiatric Disorders. | Writing Committee for the Attention-Deficit/Hyperactivity Disorder et al. | β | 2021 | β |
| Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family. | Carrion-Castillo A et al. | β | 2021 | β |
| A Comprehensive Analysis of the Effect of SIRT1 Variation on the Risk of Schizophrenia and Depressive Symptoms. | Wang D et al. | β | 2020 | β |
| A Genetics Perspective on the Role of the (Neuro)Immune System in Schizophrenia. | Birnbaum R et al. | β | 2020 | β |
| Comparison Between Expression Microarrays and RNA-Sequencing Using UKBEC Dataset Identified a <i>trans</i>-eQTL Associated with <i>MPZ</i> Gene in Substantia Nigra. | Sng LMF et al. | β | 2020 | β |
| Dementia risk in Parkinson's disease is associated with interhemispheric connectivity loss and determined by regional gene expression. | Zarkali A et al. | β | 2020 | β |
| Diverse phenotypic measurements of wellbeing: Heritability, temporal stability and the variance explained by polygenic scores. | Jamshidi J et al. | β | 2020 | β |
| Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders. | Mencacci NE et al. | β | 2020 | β |
| Enhancer Locus in ch14q23.1 Modulates Brain Asymmetric Temporal Regions Involved in Language Processing. | Le Guen Y et al. | β | 2020 | β |
| Epigenetic aging is accelerated in alcohol use disorder and regulated by genetic variation in APOL2. | Luo A et al. | β | 2020 | β |
| Erosion of Gene Co-expression Networks Reveal Deregulation of Immune System Processes in Late-Onset Alzheimer's Disease. | Malamon JS et al. | β | 2020 | β |
| Ethnicity-Dependent Effects of Schizophrenia Risk Variants of the OLIG2 Gene on OLIG2 Transcription and White Matter Integrity. | Komatsu H et al. | β | 2020 | β |
| Exploring lithium's transcriptional mechanisms of action in bipolar disorder: a multi-step study. | Akkouh IA et al. | β | 2020 | β |
| Expression quantitative trait loci-derived scores and white matter microstructure in UK Biobank: a novel approach to integrating genetics and neuroimaging. | Barbu MC et al. | β | 2020 | β |
| Functional variant of IL33 is associated with survival of osteosarcoma patients. | Lin Q et al. | β | 2020 | β |
| Genetic Association of FERMT2, HLA-DRB1, CD2AP, and PTK2B Polymorphisms With Alzheimer's Disease Risk in the Southern Chinese Population. | Yan Y et al. | β | 2020 | β |
| Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment. | Carrion-Castillo A et al. | β | 2020 | β |
| Genetic variant rs7820258 regulates the expression of indoleamine 2,3-dioxygenase 1 in brain regions. | Han Z et al. | β | 2020 | β |
| Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure. | Rode M et al. | β | 2020 | β |
| Genome wide association study of incomplete hippocampal inversion in adolescents. | Cury C et al. | β | 2020 | β |
| Genome-Wide Association Study of Opioid Cessation. | Cox JW et al. | β | 2020 | β |
| Genome-wide scan identifies opioid overdose risk locus close to MCOLN1. | Cheng Z et al. | β | 2020 | β |
| Identification of functionally connected multi-omic biomarkers for Alzheimer's disease using modularity-constrained Lasso. | Xie L et al. | β | 2020 | β |
| Identification of Novel Genes Associated with Cortical Thickness in Alzheimer's Disease: Systems Biology Approach to Neuroimaging Endophenotype. | Kim BH et al. | β | 2020 | β |
| Identification of the <i>ZEB2</i> gene as a potential target for epilepsy therapy and the association between rs10496964 and <i>ZEB2</i> expression. | Wang S et al. | β | 2020 | β |
| <i>KTN1</i> Variants Underlying Putamen Gray Matter Volumes and Parkinson's Disease. | Mao Q et al. | β | 2020 | β |
| <i>MYORG</i>-related disease is associated with central pontine calcifications and atypical parkinsonism. | Chelban V et al. | β | 2020 | β |
| Integrative analyses prioritize GNL3 as a risk gene for bipolar disorder. | Meng Q et al. | β | 2020 | β |
| Interaction between PGRN gene and the early trauma on clinical characteristics in patients with obsessive-compulsive disorder. | Wang P et al. | β | 2020 | β |
| Investigating the Causal Effect of Brain Expression of <i>CCL2</i>, <i>NFKB1</i>, <i>MAPK14</i>, <i>TNFRSF1A</i>, <i>CXCL10</i> Genes on Multiple Sclerosis: A Two-Sample Mendelian Randomization Approach. | Fazia T et al. | β | 2020 | β |
| KTN1 variants and risk for attention deficit hyperactivity disorder. | Luo X et al. | β | 2020 | β |
| Leveraging genome-wide data to investigate differences between opioid use vs. opioid dependence in 41,176 individuals from the Psychiatric Genomics Consortium. | Polimanti R et al. | β | 2020 | β |
| Overlapping genetic architecture between Parkinson disease and melanoma. | Dube U et al. | β | 2020 | β |
| Qtlizer: comprehensive QTL annotation of GWAS results. | Munz M et al. | β | 2020 | β |
| Regional imaging genetic enrichment analysis. | Yao X et al. | β | 2020 | β |
| Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. | Guelfi S et al. | β | 2020 | β |
| Resources for functional genomic studies of health and development in nonhuman primates. | Jasinska AJ | β | 2020 | β |
| rs34331204 regulates TSPAN13 expression and contributes to Alzheimer's disease with sex differences. | Hu Y et al. | β | 2020 | β |
| rs4147929 variant minor allele increases ABCA7 gene expression and ABCA7 shows increased gene expression in Alzheimer's disease patients compared with controls. | Liu G et al. | β | 2020 | β |
| Schizophrenia risk variants influence multiple classes of transcripts of sorting nexin 19 (SNX19). | Ma L et al. | β | 2020 | β |
| SERPINA1 gene expression in whole blood links the rs6647 variant G allele to an increased risk of large artery atherosclerotic stroke. | Liu Q et al. | β | 2020 | β |
| Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study. | Bahrami S et al. | β | 2020 | β |
| SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population. | Zhao A et al. | β | 2020 | β |
| STRAP and NME1 Mediate the Neurite Growth-Promoting Effects of the Neurotrophic Factor GDF5. | Anantha J et al. | β | 2020 | β |
| Tensor decomposition of stimulated monocyte and macrophage gene expression profiles identifies neurodegenerative disease-specific trans-eQTLs. | Ramdhani S et al. | β | 2020 | β |
| The multiplex model of the genetics of Alzheimer's disease. | Sims R et al. | β | 2020 | β |
| The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion. | Li Z et al. | β | 2020 | β |
| The Y Chromosome: A Complex Locus for Genetic Analyses of Complex Human Traits. | Parker K et al. | β | 2020 | β |
| Variants in the Upstream Region of the Insulin Receptor Substrate-1 Gene Is Associated with Major Depressive Disorder in the Han Chinese Population. | Wang F et al. | β | 2020 | β |
| Variants of GRM7 as risk factor and response to antipsychotic therapy in schizophrenia. | Liang W et al. | β | 2020 | β |
| Volumetric GWAS of medial temporal lobe structures identifies an ERC1 locus using ADNI high-resolution T2-weighted MRI data. | Cong S et al. | β | 2020 | β |
| A Comprehensive Analysis of the CaMK2A Gene and Susceptibility to Alzheimer's Disease in the Han Chinese Population. | Fang X et al. | β | 2019 | β |
| A functional variant in SLC1A3 influences ADHD risk by disrupting a hsa-miR-3171 binding site: A two-stage association study. | Huang X et al. | β | 2019 | β |
| Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. | Benaglio P et al. | β | 2019 | β |
| Allelic frequency differences of <i>DAOA</i> variants between Caucasians and Asians and their association with major mood disorders. | Yang Z et al. | β | 2019 | β |
| A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions. | Chong R et al. | β | 2019 | β |
| A regulatory variant of CHRM3 is associated with cannabis-induced hallucinations in European Americans. | Cheng Z et al. | β | 2019 | β |
| Association Study of <i>KCNH7</i> Polymorphisms and Individual Responses to Risperidone Treatment in Schizophrenia. | Wang X et al. | β | 2019 | β |
| A systematic review of genome-wide association studies of antipsychotic response. | Allen JD et al. | β | 2019 | β |
| Brain Banks Spur New Frontiers in Neuropsychiatric Research and Strategies for Analysis and Validation. | Wang L et al. | β | 2019 | β |
| cindr, the Drosophila Homolog of the CD2AP Alzheimer's Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis. | Ojelade SA et al. | β | 2019 | β |
| CoMM: A Collaborative Mixed Model That Integrates GWAS and eQTL Data Sets to Investigate the Genetic Architecture of Complex Traits. | Yeung KF et al. | β | 2019 | β |
| Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease. | Broce IJ et al. | β | 2019 | β |
| Dyslexia associated functional variants in Europeans are not associated with dyslexia in Chinese. | Liu L et al. | β | 2019 | β |
| Enhancer variants associated with Alzheimer's disease affect gene expression via chromatin looping. | Kikuchi M et al. | β | 2019 | β |
| Estimating contribution of rare non-coding variants to neuropsychiatric disorders. | Takata A | β | 2019 | β |
| Exploring the underlying biology of intrinsic cardiorespiratory fitness through integrative analysis of genomic variants and muscle gene expression profiling. | Ghosh S et al. | β | 2019 | β |
| Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population. | Wang Z et al. | β | 2019 | β |
| Gene Co-expression Analysis Identifies Histone Deacetylase 5 and 9 Expression in Midbrain Dopamine Neurons and as Regulators of Neurite Growth via Bone Morphogenetic Protein Signaling. | Mazzocchi M et al. | β | 2019 | β |
| Gene co-expression analysis of the human substantia nigra identifies BMP2 as a neurotrophic factor that can promote neurite growth in cells overexpressing wild-type or A53T Ξ±-synuclein. | Goulding SR et al. | β | 2019 | β |
| Genetic and Expression Analysis of COPI Genes and Alzheimer's Disease Susceptibility. | Yang Y et al. | β | 2019 | β |
| Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. | Walker RL et al. | β | 2019 | β |
| Genetic loci for alcohol-related life events and substance-induced affective symptoms: indexing the "dark side" of addiction. | Peng Q et al. | β | 2019 | β |
| Genetic variability in response to amyloid beta deposition influences Alzheimer's disease risk. | Salih DA et al. | β | 2019 | β |
| Genome-Scale Transcriptional Regulatory Network Models of Psychiatric and Neurodegenerative Disorders. | Pearl JR et al. | β | 2019 | β |
| Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income. | Hill WD et al. | β | 2019 | β |
| Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits. | Zhao B et al. | β | 2019 | β |
| Genome-wide association analysis reveals KCTD12 and miR-383-binding genes in the background of rumination. | Eszlari N et al. | β | 2019 | β |
| Genome-wide association reveals contribution of MRAS to painful temporomandibular disorder in males. | Smith SB et al. | β | 2019 | β |
| Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia. | Gialluisi A et al. | β | 2019 | β |
| Genome-wide association study identifies Alzheimer's risk variant in MS4A6A influencing cerebrospinal fluid sTREM2 levels. | Hou XH et al. | β | 2019 | β |
| Genome-wide association study identifies <i>SIAH3</i> locus influencing the rate of ventricular enlargement in non-demented elders. | Li X et al. | β | 2019 | β |
| Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans. | Yang BZ et al. | β | 2019 | β |
| Genome-wide human brain eQTLs: In-depth analysis and insights using the UKBEC dataset. | Sng LMF et al. | β | 2019 | β |
| Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk. | Jansen IE et al. | β | 2019 | β |
| Genome-Wide Variants Shared Between Smoking Quantity and Schizophrenia on 15q25 Are Associated With CHRNA5 Expression in the Brain. | Ohi K et al. | β | 2019 | β |
| Identification of <i>TYW3/CRYZ</i> and <i>FGD4</i> as susceptibility genes for amyotrophic lateral sclerosis. | Wei L et al. | β | 2019 | β |
| Identification of Key Long Non-Coding RNAs in the Pathology of Alzheimer's Disease and their Functions Based on Genome-Wide Associations Study, Microarray, and RNA-seq Data. | Han Z et al. | β | 2019 | β |
| Identification of the primate-specific gene BTN3A2 as an additional schizophrenia risk gene in the MHC loci. | Wu Y et al. | β | 2019 | β |
| IL1B polymorphism is associated with essential tremor in Chinese population. | Chen J et al. | β | 2019 | β |
| ImmuneRegulation: a web-based tool for identifying human immune regulatory elements. | Kalayci S et al. | β | 2019 | β |
| Informing disease modelling with brain-relevant functional genomic annotations. | Reynolds RH et al. | β | 2019 | β |
| LPHN3 gene variations and susceptibility to ADHD in Chinese Han population: a two-stage case-control association study and gene-environment interactions. | Huang X et al. | β | 2019 | β |
| Mining Regional Imaging Genetic Associations via Voxel-wise Enrichment Analysis. | Yao X et al. | β | 2019 | β |
| Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. | Bonnemaijer PWM et al. | β | 2019 | β |
| New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders. | Evangelou E et al. | β | 2019 | β |
| No Effect of Genome-Wide Significant Schizophrenia Risk Variation at the <i>DRD2</i> Locus on the Allelic Expression of <i>DRD2</i> in Postmortem Striatum. | Toste CC et al. | β | 2019 | β |
| NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis. | Alliey-Rodriguez N et al. | β | 2019 | β |
| Parkinson's Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain. | Liu G et al. | β | 2019 | β |
| Picomolar concentrations of oligomeric alpha-synuclein sensitizes TLR4 to play an initiating role in Parkinson's disease pathogenesis. | Hughes CD et al. | β | 2019 | β |
| Predicting novel genomic regions linked to genetic disorders using GWAS and chromosome conformation data - a case study of schizophrenia. | Buxton DS et al. | β | 2019 | β |
| Prioritizing Parkinson's disease genes using population-scale transcriptomic data. | Li YI et al. | β | 2019 | β |
| Putamen gray matter volumes in neuropsychiatric and neurodegenerative disorders. | Luo X et al. | β | 2019 | β |
| Rs2293871 regulates HTRA1 expression and affects cerebral small vessel stroke and Alzheimer's disease. | Liu G et al. | β | 2019 | β |
| Systems biology and gene networks in Alzheimer's disease. | Wang ZT et al. | β | 2019 | β |
| Target Genes of Autism Risk Loci in Brain Frontal Cortex. | Sun Y et al. | β | 2019 | β |
| The association of obesity and coronary artery disease genes with response to SSRIs treatment in major depression. | Amare AT et al. | β | 2019 | β |
| The effect of psychosis associated CACNA1C, and its epistasis with ZNF804A, on brain function. | TecelΓ£o D et al. | β | 2019 | β |
| The MHC in the era of next-generation sequencing: Implications for bridging structure with function. | Petersdorf EW et al. | β | 2019 | β |
| The Potential Role of Regulatory Genes (<i>DNMT3A</i>, <i>HDAC5</i>, and <i>HDAC9</i>) in Antipsychotic Treatment Response in South African Schizophrenia Patients. | O'Connell KS et al. | β | 2019 | β |
| The role of monogenic genes in idiopathic Parkinson's disease. | Reed X et al. | β | 2019 | β |
| Thinking About Schizophrenia in an Era of Genomic Medicine. | Weinberger DR | β | 2019 | β |
| Transcriptomic and genetic analyses reveal potential causal drivers for intractable partial epilepsy. | Guelfi S et al. | β | 2019 | β |
| A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease. | PihlstrΓΈm L et al. | β | 2018 | β |
| A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. | Salpietro V et al. | β | 2018 | β |
| A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function. | Salpietro V et al. | β | 2018 | β |
| Alzheimer's Disease Risk Variant rs2373115 Regulates GAB2 and NARS2 Expression in Human Brain Tissues. | Liu G et al. | β | 2018 | β |
| Alzheimer's Disease rs11767557 Variant Regulates EPHA1 Gene Expression Specifically in Human Whole Blood. | Liu G et al. | β | 2018 | β |
| An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk. | Rao S et al. | β | 2018 | β |
| A new locus regulating MICALL2 expression was identified for association with executive inhibition in children with attention deficit hyperactivity disorder. | Yang L et al. | β | 2018 | β |
| Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population. | Wang L et al. | β | 2018 | β |
| Beta-defensin 1, aryl hydrocarbon receptor and plasma kynurenine in major depressive disorder: metabolomics-informed genomics. | Liu D et al. | β | 2018 | β |
| Brain Regions Showing White Matter Loss inΒ Huntington's Disease Are Enriched for Synaptic and Metabolic Genes. | McColgan P et al. | β | 2018 | β |
| Characterizing the Relation Between Expression QTLs and Complex Traits: Exploring the Role of Tissue Specificity. | Ip HF et al. | β | 2018 | β |
| Cross-tissue eQTL enrichment of associations in schizophrenia. | Bettella F et al. | β | 2018 | β |
| CXCR4 involvement in neurodegenerative diseases. | Bonham LW et al. | β | 2018 | β |
| Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk. | Zhou J et al. | β | 2018 | β |
| Disease status affects the association between rs4813620 and the expression of Alzheimer's disease susceptibility gene <i>TRIB3</i>. | Liu G et al. | β | 2018 | β |
| DLGAP1 and NMDA receptor-associated postsynaptic density protein genes influence executive function in attention deficit hyperactivity disorder. | Fan Z et al. | β | 2018 | β |
| Dyslexia risk variant rs600753 is linked with dyslexia-specific differential allelic expression of DYX1C1. | MΓΌller B et al. | β | 2018 | β |
| Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study. | Yu H et al. | β | 2018 | β |
| FOXO protects against age-progressive axonal degeneration. | Hwang I et al. | β | 2018 | β |
| Genes associated with anhedonia: a new analysis in a large clinical trial (GENDEP). | Ren H et al. | β | 2018 | β |
| Genetic association of the cytochrome c oxidase-related genes with Alzheimer's disease in Han Chinese. | Bi R et al. | β | 2018 | β |
| Genetic Overlap Between Schizophrenia and Volumes of Hippocampus, Putamen, and Intracranial Volume Indicates Shared Molecular Genetic Mechanisms. | Smeland OB et al. | β | 2018 | β |
| Genetic risk mechanisms of posttraumatic stress disorder in the human brain. | Bharadwaj RA et al. | β | 2018 | β |
| Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. | Scelsi MA et al. | β | 2018 | β |
| Genetic Study of White Matter Integrity in UK Biobank (N=8448) and the Overlap With Stroke, Depression, and Dementia. | Rutten-Jacobs LCA et al. | β | 2018 | β |
| Genetic Variant rs755622 Regulates Expression of the Multiple Sclerosis Severity Modifier D-Dopachrome Tautomerase in a Sex-Specific Way. | Han Z et al. | β | 2018 | β |
| Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk. | Zhang Y et al. | β | 2018 | β |
| Genetic Variation in the Androgen Receptor and Measures of Plasma Testosterone Levels Suggest Androgen Dysfunction in Alzheimer's Disease. | Carr JS et al. | β | 2018 | β |
| Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences. | Manzoni C et al. | β | 2018 | β |
| Genome-wide association analysis links multiple psychiatric liability genes to oscillatory brain activity. | Smit DJA et al. | β | 2018 | β |
| Genome-wide Association Analysis of Eye Movement Dysfunction in Schizophrenia. | Kikuchi M et al. | β | 2018 | β |
| Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence. | Hancock DB et al. | β | 2018 | β |
| Genome-wide Association Study Identifies a Regulatory Variant of RGMA Associated With Opioid Dependence in European Americans. | Cheng Z et al. | β | 2018 | β |
| Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients. | Koster R et al. | β | 2018 | β |
| Genome-wide association study of nocturnal blood pressure dipping in hypertensive patients. | RimpelΓ€ JM et al. | β | 2018 | β |
| Genome-wide association study of seasonal affective disorder. | Ho KWD et al. | β | 2018 | β |
| High and Low Levels of an NTRK2-Driven Genetic Profile Affect Motor- and Cognition-Associated Frontal Gray Matter in Prodromal Huntington's Disease. | Ciarochi JA et al. | β | 2018 | β |
| High-resolution temporal and regional mapping of MAPT expression and splicing in human brain development. | Hefti MM et al. | β | 2018 | β |
| How powerful are summary-based methods for identifying expression-trait associations under different genetic architectures? | Veturi Y et al. | β | 2018 | β |
| Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue. | Bhalala OG et al. | β | 2018 | β |
| Identification of five novel genetic loci related to facial morphology by genome-wide association studies. | Cha S et al. | β | 2018 | β |
| Identification of putative regulatory regions and transcription factors associated with intramuscular fat content traits. | Cesar ASM et al. | β | 2018 | β |
| Identification of shared genetic variants between schizophrenia and lung cancer. | Zuber V et al. | β | 2018 | β |
| Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. | Broce I et al. | β | 2018 | β |
| Integrated Systems Approach Reveals Sphingolipid Metabolism Pathway Dysregulation in Association with Late-Onset Alzheimer's Disease. | Malamon JS et al. | β | 2018 | β |
| Integration of transcriptomic and cytoarchitectonic data implicates a role for MAOA and TAC1 in the limbic-cortical network. | Bludau S et al. | β | 2018 | β |
| Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits. | Wu Y et al. | β | 2018 | β |
| <i>VRK2</i>, a Candidate Gene for Psychiatric and Neurological Disorders. | Li M et al. | β | 2018 | β |
| Large-scale meta-analysis highlights the hypothalamic-pituitary-gonadal axis in the genetic regulation of menstrual cycle length. | Laisk T et al. | β | 2018 | β |
| Left Parietal Functional Connectivity Mediates the Association Between <i>COMT</i> rs4633 and Verbal Intelligence in Healthy Adults. | Xu Q et al. | β | 2018 | β |
| Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples. | Huguet G et al. | β | 2018 | β |
| Neurotransmitter Pathway Genes in Cognitive Decline During Aging: Evidence for GNG4 and KCNQ2 Genes. | Bonham LW et al. | β | 2018 | β |
| Poliovirus Receptor (CD155) Expression in Pediatric Brain Tumors Mediates Oncolysis of Medulloblastoma and Pleomorphic Xanthoastrocytoma. | Thompson EM et al. | β | 2018 | β |
| Power, false discovery rate and Winner's Curse in eQTL studies. | Huang QQ et al. | β | 2018 | β |
| Recent Progress in Pharmacogenomics of Antipsychotic Drug Response. | Zhang JP et al. | β | 2018 | β |
| Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. | Li Y et al. | β | 2018 | β |
| Revealing the complex genetic architecture of obsessive-compulsive disorder using meta-analysis. | International Obsessive Compulsive Disorder Foundation Genetics Collaborative (IOCDF-GC) and OCD Collaborative Genetics Association Studies (OCGAS) | β | 2018 | β |
| Risk variants of the Ξ±-synuclein locus and REM sleep behavior disorder in Parkinson's disease: a genetic association study. | BjΓΈrnarΓ₯ KA et al. | β | 2018 | β |
| Selection on the regulation of sympathetic nervous activity in humans and chimpanzees. | Lee KS et al. | β | 2018 | β |
| Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. | Karch CM et al. | β | 2018 | β |
| Significant concordance of genetic variation that increases both the risk for obsessive-compulsive disorder and the volumes of the nucleus accumbens and putamen. | Hibar DP et al. | β | 2018 | β |
| SIRT1 rs3758391 and Major Depressive Disorder: New Data and Meta-Analysis. | Tang W et al. | β | 2018 | β |
| Tensor-on-tensor regression. | Lock EF | β | 2018 | β |
| The Arc Gene Confers Genetic Susceptibility to Alzheimer's Disease in Han Chinese. | Bi R et al. | β | 2018 | β |
| The cAMP responsive element-binding (CREB)-1 gene increases risk of major psychiatric disorders. | Xiao X et al. | β | 2018 | β |
| The Gene Encoding Protocadherin 9 (PCDH9), a Novel Risk Factor for Major Depressive Disorder. | Xiao X et al. | β | 2018 | β |
| The impact of psychosis genome-wide associated ZNF804A variation on verbal fluency connectivity. | TecelΓ£o D et al. | β | 2018 | β |
| The integrated landscape of causal genes and pathways in schizophrenia. | Ma C et al. | β | 2018 | β |
| The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. | Sun N et al. | β | 2018 | β |
| Understanding Neurodevelopmental Disorders: The Promise of Regulatory Variation in the 3'UTRome. | Wanke KA et al. | β | 2018 | β |
| Untangling Genetic Risk for Alzheimer's Disease. | Pimenova AA et al. | β | 2018 | β |
| Variation among intact tissue samples reveals the core transcriptional features of human CNS cell classes. | Kelley KW et al. | β | 2018 | β |
| Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype. | Jabbari E et al. | β | 2018 | β |
| A genetic association study of CSMD1 and CSMD2 with cognitive function. | Athanasiu L et al. | β | 2017 | β |
| An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome. | Ng B et al. | β | 2017 | β |
| Association of anti-inflammatory cytokine IL10 polymorphisms with motoric cognitive risk syndrome in an Ashkenazi Jewish population. | Sathyan S et al. | β | 2017 | β |
| Attention-deficit/hyperactivity disorder associated with KChIP1 rs1541665 in Kv channels accessory proteins. | Yuan FF et al. | β | 2017 | β |
| BrainScope: interactive visual exploration of the spatial and temporal human brain transcriptome. | Huisman SMH et al. | β | 2017 | β |
| Cognitive Characterization of Schizophrenia Risk Variants Involved in Synaptic Transmission: Evidence of CACNA1C's Role in Working Memory. | Cosgrove D et al. | β | 2017 | β |
| Common variants at 2q11.2, 8q21.3, and 11q13.2 are associated with major mood disorders. | Xiao X et al. | β | 2017 | β |
| Common variants on 2p16.1, 6p22.1 and 10q24.32 are associated with schizophrenia in Han Chinese population. | Yu H et al. | β | 2017 | β |
| Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants. | Markunas CA et al. | β | 2017 | β |
| Conditional eQTL analysis reveals allelic heterogeneity of gene expression. | Jansen R et al. | β | 2017 | β |
| Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders. | Mozzi A et al. | β | 2017 | β |
| Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. | Parisien M et al. | β | 2017 | β |
| Enhancing the Promise of Drug Repositioning through Genetics. | Pritchard JE et al. | β | 2017 | β |
| Functional mapping and annotation of genetic associations with FUMA. | Watanabe K et al. | β | 2017 | β |
| Genetic architecture of epigenetic and neuronal ageing rates in human brain regions. | Lu AT et al. | β | 2017 | β |
| Genetic association of rs1344706 in ZNF804A with bipolar disorder and schizophrenia susceptibility in Chinese populations. | Rao S et al. | β | 2017 | β |
| Genetic epistasis regulates amyloid deposition in resilient aging. | Felsky D et al. | β | 2017 | β |
| Genetic insights into the neurodevelopmental origins of schizophrenia. | Birnbaum R et al. | β | 2017 | β |
| Genetic regulation of gene expression in the epileptic human hippocampus. | Mirza N et al. | β | 2017 | β |
| Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression. | Liu G et al. | β | 2017 | β |
| Genetic Variants and Multiple Sclerosis Risk Gene SLC9A9 Expression in Distinct Human Brain Regions. | Liu G et al. | β | 2017 | β |
| Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population. | Wu Z et al. | β | 2017 | β |
| Genome-wide association study of paliperidone efficacy. | Li Q et al. | β | 2017 | β |
| Genome-wide association study of positive emotion identifies a genetic variant and a role for microRNAs. | Wingo AP et al. | β | 2017 | β |
| Genome-wide interaction study of brain beta-amyloid burden and cognitive impairment in Alzheimer's disease. | Roostaei T et al. | β | 2017 | β |
| Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus. | Schulz H et al. | β | 2017 | β |
| Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. | Witoelar A et al. | β | 2017 | β |
| Genomic approaches to the assessment of human spina bifida risk. | Ross ME et al. | β | 2017 | β |
| GLRB variants regulate nearby gene expression in human brain tissues. | Wu QJ et al. | β | 2017 | β |
| <i>ATP2C2</i> and <i>DYX1C1</i> are putative modulators of dyslexia-related MMR. | MΓΌller B et al. | β | 2017 | β |
| Increased brain expression of GPNMB is associated with genome wide significant risk for Parkinson's disease on chromosome 7p15.3. | Murthy MN et al. | β | 2017 | β |
| Influence of <i>CFH</i> gene on symptom severity of schizophrenia. | Zhang C et al. | β | 2017 | β |
| Integration of expression quantitative trait loci and pleiotropy identifies a novel psoriasis susceptibility gene, PTPN1. | Yin X et al. | β | 2017 | β |
| It's All in the Brain: A Review of Available Functional Genomic Annotations. | Gagliano SA | β | 2017 | β |
| Large-Scale Cognitive GWAS Meta-Analysis Reveals Tissue-Specific Neural Expression and Potential Nootropic Drug Targets. | Lam M et al. | β | 2017 | β |
| Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials. | van Eijk RPA et al. | β | 2017 | β |
| Molecular and Functional Properties of Regional Astrocytes in the Adult Brain. | Morel L et al. | β | 2017 | β |
| Molecular mechanisms underlying noncoding risk variations in psychiatric genetic studies. | Xiao X et al. | β | 2017 | β |
| Most brain disease-associated and eQTL haplotypes are not located within transcription factor DNase-seq footprints in brain. | Handel AE et al. | β | 2017 | β |
| Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. | Chelban V et al. | β | 2017 | β |
| Neuregulin signaling pathway in smoking behavior. | Gupta R et al. | β | 2017 | β |
| Novel genetic loci associated with hippocampal volume. | Hibar DP et al. | β | 2017 | β |
| Replicated evidence for aminoacylase 3 and nephrin gene variations to predict antihypertensive drug responses. | RimpelΓ€ JM et al. | β | 2017 | β |
| Sensorimotor Learning: Neurocognitive Mechanisms and Individual Differences. | Seidler RD et al. | β | 2017 | β |
| Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. | Yokoyama JS et al. | β | 2017 | β |
| SLC6A1 gene involvement in susceptibility to attention-deficit/hyperactivity disorder: A case-control study and gene-environment interaction. | Yuan FF et al. | β | 2017 | β |
| SORL1 Variants Show Different Association with Early-Onset and Late-Onset Alzheimer's Disease Risk. | Liu G et al. | β | 2017 | β |
| Spatial and temporal expression patterns of genes around nine neuroticism-associated loci. | Ohi K et al. | β | 2017 | β |
| The Big Picture: Systems Biology Approach to Antiepileptic Drug Discovery. | Kearney JA | β | 2017 | β |
| The PHF21B gene is associated with major depression and modulates the stress response. | Wong ML et al. | β | 2017 | β |
| Unique Allelic eQTL Clusters in Human MHC Haplotypes. | Lam TH et al. | β | 2017 | β |
| Weighted Protein Interaction Network Analysis of Frontotemporal Dementia. | Ferrari R et al. | β | 2017 | β |
| Whole genome sequence association and ancestry-informed polygenic profile of EEG alpha in a Native American population. | Peng Q et al. | β | 2017 | β |
| ABCA7 p.G215S as potential protective factor for Alzheimer's disease. | Sassi C et al. | β | 2016 | β |
| A combined analysis of genome-wide expression profiling of bipolar disorder in human prefrontal cortex. | Wang J et al. | β | 2016 | β |
| A Common CYFIP1 Variant at the 15q11.2 Disease Locus Is Associated with Structural Variation at the Language-Related Left Supramarginal Gyrus. | Woo YJ et al. | β | 2016 | β |
| A comprehensive analysis of NDST3 for schizophrenia and bipolar disorder in Han Chinese. | Zhang C et al. | β | 2016 | β |
| A Genome-Wide Association Study of Attention Function in a Population-Based Sample of Children. | Alemany S et al. | β | 2016 | β |
| A haplotype in the 5'-upstream region of the NDUFV2 gene is associated with major depressive disorder in Han Chinese. | Zhang Z et al. | β | 2016 | β |
| Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci. | Karch CM et al. | β | 2016 | β |
| Analysis of 23andMe antidepressant efficacy survey data: implication of circadian rhythm and neuroplasticity in bupropion response. | Li QS et al. | β | 2016 | β |
| Antipsychotic pharmacogenomics in first episode psychosis: a role for glutamate genes. | Stevenson JM et al. | β | 2016 | β |
| A Polymorphic Antioxidant Response Element Links NRF2/sMAF Binding to Enhanced MAPT Expression and Reduced Risk of Parkinsonian Disorders. | Wang X et al. | β | 2016 | β |
| A Population-Based Study of Four Genes Associated with Heroin Addiction in Han Chinese. | Li Y et al. | β | 2016 | β |
| Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort. | MΓΌller B et al. | β | 2016 | β |
| Blood gene expression studies in migraine: Potential and caveats. | Gerring Z et al. | β | 2016 | β |
| Capture Hi-C identifies a novel causal gene, IL20RA, in the pan-autoimmune genetic susceptibility region 6q23. | McGovern A et al. | β | 2016 | β |
| CFH Variants Affect Structural and Functional Brain Changes and Genetic Risk of Alzheimer's Disease. | Zhang DF et al. | β | 2016 | β |
| Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population. | Li J et al. | β | 2016 | β |
| Chromosome conformation elucidates regulatory relationships in developing human brain. | Won H et al. | β | 2016 | β |
| Complement factor H and susceptibility to major depressive disorder in Han Chinese. | Zhang C et al. | β | 2016 | β |
| Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. | Blauwendraat C et al. | β | 2016 | β |
| Decoding the non-coding genome: elucidating genetic risk outside the coding genome. | Barr CL et al. | β | 2016 | β |
| Early developmental gene enhancers affect subcortical volumes in the adult human brain. | Becker M et al. | β | 2016 | β |
| Evaluating the association between the SHANK3 gene and bipolar disorder. | Zhang C et al. | β | 2016 | β |
| Exploiting expression patterns across multiple tissues to map expression quantitative trait loci. | Acharya CR et al. | β | 2016 | β |
| Fine-mapping the effects of Alzheimer's disease risk loci on brain morphology. | Roshchupkin GV et al. | β | 2016 | β |
| Gene-based aggregate SNP associations between candidate AD genes and cognitive decline. | Nettiksimmons J et al. | β | 2016 | β |
| Gene expression elucidates functional impact of polygenic risk for schizophrenia. | Fromer M et al. | β | 2016 | β |
| Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia | Fromer M et al. | β | 2016 | β |
| Gene expression in major depressive disorder. | Jansen R et al. | β | 2016 | β |
| Genetic variants near MLST8 and DHX57 affect the epigenetic age of the cerebellum. | Lu AT et al. | β | 2016 | β |
| Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. | van Rheenen W et al. | β | 2016 | β |
| Genome-wide association analyses identify new susceptibility loci for oral cavity and pharyngeal cancer. | Lesseur C et al. | β | 2016 | β |
| Genome-Wide Association and Exome Sequencing Study of Language Disorder in an Isolated Population. | Kornilov SA et al. | β | 2016 | β |
| Genome-Wide Association Study Suggested the PTPRD Polymorphisms Were Associated With Weight Gain Effects of Atypical Antipsychotic Medications. | Yu H et al. | β | 2016 | β |
| Genome-wide DNA methylation profiling in the superior temporal gyrus reveals epigenetic signatures associated with Alzheimer's disease. | Watson CT et al. | β | 2016 | β |
| Genome-wide significant schizophrenia risk variation on chromosome 10q24 is associated with altered cis-regulation of BORCS7, AS3MT, and NT5C2 in the human brain. | Duarte RRR et al. | β | 2016 | β |
| Genomics and CSF analyses implicate thyroid hormone in hippocampal sclerosis of aging. | Nelson PT et al. | β | 2016 | β |
| Genomics implicates adaptive and innate immunity in Alzheimer's and Parkinson's diseases. | Gagliano SA et al. | β | 2016 | β |
| HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. | Ward LD et al. | β | 2016 | β |
| Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases. | Allen M et al. | β | 2016 | β |
| Identification of additional risk loci for stroke and small vessel disease: a meta-analysis of genome-wide association studies. | Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium et al. | β | 2016 | β |
| Identification of genetic modifiers of age-at-onset for familial Parkinson's disease. | Hill-Burns EM et al. | β | 2016 | β |
| Identification of IL6 as a susceptibility gene for major depressive disorder. | Zhang C et al. | β | 2016 | β |
| Identification of SLC25A37 as a major depressive disorder risk gene. | Huo YX et al. | β | 2016 | β |
| Increased Nigral SLC6A3 Activity in Schizophrenia Patients: Findings From the Toronto-McLean Cohorts. | Kennedy JL et al. | β | 2016 | β |
| Influence of Coding Variability in APP-AΞ² Metabolism Genes in Sporadic Alzheimer's Disease. | Sassi C et al. | β | 2016 | β |
| Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. | Zhu Z et al. | β | 2016 | β |
| Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. | Tajuddin SM et al. | β | 2016 | β |
| Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci. | Hannon E et al. | β | 2016 | β |
| Multivariate eQTL mapping uncovers functional variation on the X-chromosome associated with complex disease traits. | Brumpton BM et al. | β | 2016 | β |
| Neural Conversion and Patterning of Human Pluripotent Stem Cells: A Developmental Perspective. | Zirra A et al. | β | 2016 | β |
| Next generation transcriptomics and genomics elucidate biological complexity of microglia in health and disease. | Wes PD et al. | β | 2016 | β |
| PLD3 in Alzheimer's Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses. | Zhang DF et al. | β | 2016 | β |
| Postmortem human brain genomics in neuropsychiatric disorders--how far can we go? | Jaffe AE | β | 2016 | β |
| Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery. | Delahaye-Duriez A et al. | β | 2016 | β |
| Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis. | Gaastra B et al. | β | 2016 | β |
| rVarBase: an updated database for regulatory features of human variants. | Guo L et al. | β | 2016 | β |
| Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target? | Horvath GA et al. | β | 2016 | β |
| Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease. | Johnson MR et al. | β | 2016 | β |
| The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. | Ehret GB et al. | β | 2016 | β |
| The <i>NCAN</i> gene: schizophrenia susceptibility and cognitive dysfunction. | Wang P et al. | β | 2016 | β |
| The road to precision psychiatry: translating genetics into disease mechanisms. | Gandal MJ et al. | β | 2016 | β |
| Translating Genetic Risk Loci Into Molecular Risk Mechanisms for Schizophrenia. | Bray NJ et al. | β | 2016 | β |
| TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics. | Gupta M et al. | β | 2016 | β |
| variancePartition: interpreting drivers of variation in complex gene expression studies. | Hoffman GE et al. | β | 2016 | β |
| ZNF804A Genetic Variation Confers Risk to Bipolar Disorder. | Zhang C et al. | β | 2016 | β |
| 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages. | Adamo A et al. | β | 2015 | β |
| A gene-based association method for mapping traits using reference transcriptome data. | Gamazon ER et al. | β | 2015 | β |
| A novel multi-tissue RNA diagnostic of healthy ageing relates to cognitive health status. | Sood S et al. | β | 2015 | β |
| Applying the new genomics to alcohol dependence. | Farris SP et al. | β | 2015 | β |
| A schizophrenia-associated HLA locus affects thalamus volume and asymmetry. | Brucato N et al. | β | 2015 | β |
| Common genetic variants influence human subcortical brain structures. | Hibar DP et al. | β | 2015 | β |
| Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma. | Ye Z et al. | β | 2015 | β |
| Common variants of OPA1 conferring genetic susceptibility to leprosy in Han Chinese from Southwest China. | Xiang YL et al. | β | 2015 | β |
| DEGS2 polymorphism associated with cognition in schizophrenia is associated with gene expression in brain. | Ohi K et al. | β | 2015 | β |
| Demystifying the secret mission of enhancers: linking distal regulatory elements to target genes. | Yao L et al. | β | 2015 | β |
| Evidence for Association of Cell Adhesion Molecules Pathway and NLGN1 Polymorphisms with Schizophrenia in Chinese Han Population. | Zhang Z et al. | β | 2015 | β |
| Expression quantitative trait loci (eQTLs) in microRNA genes are enriched for schizophrenia and bipolar disorder association signals. | Williamson VS et al. | β | 2015 | β |
| Expression quantitative trait locus analysis for translational medicine. | Gibson G et al. | β | 2015 | β |
| Fine mapping and resequencing of the PARK16 locus in Parkinson's disease. | PihlstrΓΈm L et al. | β | 2015 | β |
| From trans to cis: transcriptional regulatory networks in neocortical development. | Shibata M et al. | β | 2015 | β |
| Genome-wide association study of schizophrenia in Ashkenazi Jews. | Goes FS et al. | β | 2015 | β |
| Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. | Hancock DB et al. | β | 2015 | β |
| Genomic modulators of gene expression in human neutrophils. | Naranbhai V et al. | β | 2015 | β |
| Integrated Genome-wide association and hypothalamus eQTL studies indicate a link between the circadian rhythm-related gene PER1 and coping behavior. | Ponsuksili S et al. | β | 2015 | β |
| Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis. | Morgan S et al. | β | 2015 | β |
| Late-onset Alzheimer disease risk variants mark brain regulatory loci. | Allen M et al. | β | 2015 | β |
| Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. | Tak YG et al. | β | 2015 | β |
| Novel human ABCC9/SUR2 brain-expressed transcripts and an eQTL relevant to hippocampal sclerosis of aging. | Nelson PT et al. | β | 2015 | β |
| Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank. | Wain LV et al. | β | 2015 | β |
| Proteasome system dysregulation and treatment resistance mechanisms in major depressive disorder. | Minelli A et al. | β | 2015 | β |
| RNA sequencing of transcriptomes in human brain regions: protein-coding and non-coding RNAs, isoforms and alleles. | Webb A et al. | β | 2015 | β |
| Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. | Parikshak NN et al. | β | 2015 | β |
| The role of regulatory variation in complex traits and disease. | Albert FW et al. | β | 2015 | β |