Genetic regulation of gene expression in the epileptic human hippocampus

Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations

(2016) Takehiko Inui et al.   BRAIN & DEVELOPMENT

Identification of novel genetic causes of Rett syndrome-likephenotypes

(2016) Fátima Lopes et al.   JOURNAL OF MEDICAL GENETICS

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases

(2016) O. Franzen et al.   SCIENCE

Natural variations in stearoyl-acp desaturase genes affect the conversion of stearic to oleic acid in maize kernel

(2016) Yingjia Han et al.   THEORETICAL AND APPLIED GENETICS

Novel de novoEEF1A2missense mutations causing epilepsy and intellectual disability

(2016) Wayne W.K. Lam et al.   Molecular Genetics & Genomic Medicine

Comprehensively Evaluating cis -Regulatory Variation in the Human Prostate Transcriptome by Using Gene-Level Allele-Specific Expression

(2015) Nicholas B. Larson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Array-Comparative Genomic Hybridization Analysis of a Cohort of Saudi Patients with Epilepsy

(2015) Muhammad Faheem et al.   CNS & Neurological Disorders-Drug Targets

Identifying the biological pathways underlying human focal epilepsy: from complexity to coherence to centrality

(2015) Nasir Mirza et al.   HUMAN MOLECULAR GENETICS

Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitability

(2015) Gang Yao et al.   HUMAN MOLECULAR GENETICS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

(2015) Michael R. Johnson et al.   Nature Communications

Meta-Analysis Revives Genome-Wide Association Studies in Epilepsy

(2015) Annapurna Poduri   Epilepsy Currents

Describing the genetic architecture of epilepsy through heritability analysis

(2014) Doug Speed et al.   BRAIN

De novo EEF1A2mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

(2014) J. Nakajima et al.   CLINICAL GENETICS

Mendelian genes for Parkinson's disease contribute to the sporadic forms of the disease†

(2014) Nino Spataro et al.   HUMAN MOLECULAR GENETICS

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Common variants associated with general and MMR vaccine–related febrile seizures

(2014) Bjarke Feenstra et al.   NATURE GENETICS

Genetic variability in the regulation of gene expression in ten regions of the human brain

(2014) Adaikalavan Ramasamy et al.   NATURE NEUROSCIENCE

A meta-analysis of gene expression quantitative trait loci in brain

(2014) Y Kim et al.   Translational Psychiatry

Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS

(2013) Xin He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

(2013) Peter R. Baker et al.   BRAIN

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Variation in Rubisco activase (RCAβ) gene promoters and expression in soybean [Glycine max (L.) Merr.]

(2013) Maoni Chao et al.   JOURNAL OF EXPERIMENTAL BOTANY

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

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

Systematic identification of trans eQTLs as putative drivers of known disease associations

(2013) Harm-Jan Westra et al.   NATURE GENETICS

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

(2013) Adaikalavan Ramasamy et al.   NUCLEIC ACIDS RESEARCH

Whole Brain and Brain Regional Coexpression Network Interactions Associated with Predisposition to Alcohol Consumption

(2013) Lauren A. Vanderlinden et al.   PLoS One

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

(2012) Hirotomo Saitsu et al.   ANNALS OF NEUROLOGY

Matrix eQTL: ultra fast eQTL analysis via large matrix operations

(2012) A. A. Shabalin   BIOINFORMATICS

A high-performance computing toolset for relatedness and principal component analysis of SNP data

(2012) X. Zheng et al.   BIOINFORMATICS

Unraveling Inflammatory Responses using Systems Genetics and Gene-Environment Interactions in Macrophages

(2012) Luz D. Orozco et al.   CELL

Impact of Common Variation in Bone-Related Genes on Type 2 Diabetes and Related Traits

(2012) L. K. Billings et al.   DIABETES

The mechanism of action of retigabine (ezogabine), a first-in-class K+ channel opener for the treatment of epilepsy

(2012) Martin J. Gunthorpe et al.   EPILEPSIA

Linking disease associations with regulatory information in the human genome

(2012) M. A. Schaub et al.   GENOME RESEARCH

Genotype–phenotype correlation inCC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

(2012) Ruxandra Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Genetics of gene expression in primary immune cells identifies cell type–specific master regulators and roles of HLA alleles

(2012) Benjamin P Fairfax et al.   NATURE GENETICS

Mapping cis- and trans-regulatory effects across multiple tissues in twins

(2012) Elin Grundberg et al.   NATURE GENETICS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identifying the Genetic Variation of Gene Expression Using Gene Sets: Application of Novel Gene Set eQTL Approach to PharmGKB and KEGG

(2012) Ryan Abo et al.   PLoS One

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants

(2012) Fanggeng Zou et al.   PLoS Genetics

Association between SNPs and gene expression in multiple regions of the human brain

(2012) S Kim et al.   Translational Psychiatry

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

seeQTL: a searchable database for human eQTLs

(2011) Kai Xia et al.   BIOINFORMATICS

Independent surrogate variable analysis to deconvolve confounding factors in large-scale microarray profiling studies

(2011) Andrew E. Teschendorff et al.   BIOINFORMATICS

Exploring the genomic basis of pharmacoresistance in epilepsy: an integrative analysis of large-scale gene expression profiling studies on brain tissue from epilepsy surgery

(2011) Nasir Mirza et al.   HUMAN MOLECULAR GENETICS

Gene expression endophenotypes: a novel approach for gene discovery in Alzheimer's disease

(2011) Nilüfer Ertekin-Taner   Molecular Neurodegeneration

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants

(2011) L. D. Ward et al.   NUCLEIC ACIDS RESEARCH

Gene Expression in Skin and Lymphoblastoid Cells: Refined Statistical Method Reveals Extensive Overlap in cis-eQTL Signals

(2010) Jun Ding et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Systems Genetics Analysis of Gene-by-Environment Interactions in Human Cells

(2010) Casey E. Romanoski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Hippocampal Formation in Schizophrenia

(2010) Carol A. Tamminga et al.   AMERICAN JOURNAL OF PSYCHIATRY

Control of Population Stratification by Correlation-Selected Principal Components

(2010) Seunggeun Lee et al.   BIOMETRICS

Development of head organizer of the mouse embryo depends on a high level of mitochondrial metabolism

(2010) Xin Zhou et al.   DEVELOPMENTAL BIOLOGY

Expression Quantitative Trait Loci: Replication, Tissue- and Sex-Specificity in Mice

(2010) A. van Nas et al.   GENETICS

Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease

(2010) Karin Fransen et al.   HUMAN MOLECULAR GENETICS

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

Genetic Control of Human Brain Transcript Expression in Alzheimer Disease

(2009) Jennifer A. Webster et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain

(2009) R.W. Stottmann et al.   DEVELOPMENTAL BIOLOGY

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

(2009) Toshimitsu Suzuki et al.   HUMAN MOLECULAR GENETICS

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

(2009) A. S. Dimas et al.   SCIENCE

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes

(2008) B. A. Neubauer et al.   NEUROLOGY

Revealing the architecture of gene regulation: the promise of eQTL studies

(2008) Yoav Gilad et al.   TRENDS IN GENETICS

High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation

(2008) Jean-Baptiste Veyrieras et al.   PLoS Genetics

Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy

(2007) Thomas V. Wuttke et al.   JOURNAL OF PHYSIOLOGY-LONDON