Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder

On the cross-population generalizability of gene expression prediction models

(2020) Kevin L. Keys et al.   PLoS Genetics

Genome-Scale Transcriptional Regulatory Network Models of Psychiatric and Neurodegenerative Disorders

(2019) Jocelynn R. Pearl et al.   Cell Systems

Opportunities and challenges for transcriptome-wide association studies

(2019) Michael Wainberg et al.   NATURE GENETICS

A statistical framework for cross-tissue transcriptome-wide association analysis

(2019) Yiming Hu et al.   NATURE GENETICS

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Inferring Regulatory Programs Governing Region Specificity of Neuroepithelial Stem Cells during Early Hindbrain and Spinal Cord Development

(2019) Deborah Chasman et al.   Cell Systems

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

(2019) Pamela Feliciano et al.   npj Genomic Medicine

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

(2018) Alexander Gusev et al.   NATURE GENETICS

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

(2018) Pamela Feliciano et al.   NEURON

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

(2018) Mingfeng Li et al.   SCIENCE

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

(2018) Joon-Yong An et al.   SCIENCE

The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders

(2018) Chao Chen et al.   Science Translational Medicine

The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders

(2017) C B Pedersen et al.   MOLECULAR PSYCHIATRY

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

(2016) Paul R. Kasher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide association study of 40,000 individuals identifies two novel loci associated with bipolar disorder

(2016) Liping Hou et al.   HUMAN MOLECULAR GENETICS

Prenatal β-catenin/Brn2/Tbr2 transcriptional cascade regulates adult social and stereotypic behaviors

(2016) H Belinson et al.   MOLECULAR PSYCHIATRY

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

(2016) M C Marchetto et al.   MOLECULAR PSYCHIATRY

Chromosome conformation elucidates regulatory relationships in developing human brain

(2016) Hyejung Won et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Gene expression elucidates functional impact of polygenic risk for schizophrenia

(2016) Menachem Fromer et al.   NATURE NEUROSCIENCE

denovo-db: a compendium of humande novovariants

(2016) Tychele N. Turner et al.   NUCLEIC ACIDS RESEARCH

Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

(2016) Daniela Strunk et al.   Molecular Cytogenetics

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles

(2015) Anthony Mathelier et al.   NUCLEIC ACIDS RESEARCH

PRSice: Polygenic Risk Score software

(2014) Jack Euesden et al.   BIOINFORMATICS

Determination and Inference of Eukaryotic Transcription Factor Sequence Specificity

(2014) Matthew T. Weirauch et al.   CELL

Statistical confidence estimation for Hi-C data reveals regulatory chromatin contacts

(2014) F. Ay et al.   GENOME RESEARCH

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Discovery of directional and nondirectional pioneer transcription factors by modeling DNase profile magnitude and shape

(2014) Richard I Sherwood et al.   NATURE BIOTECHNOLOGY

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Genome-wide association study reveals two new risk loci for bipolar disorder

(2014) Thomas W. Mühleisen et al.   Nature Communications

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Sequence features and chromatin structure around the genomic regions bound by 119 human transcription factors

(2012) J. Wang et al.   GENOME RESEARCH

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Iterative correction of Hi-C data reveals hallmarks of chromosome organization

(2012) Maxim Imakaev et al.   NATURE METHODS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Pseudosibship methods in the case-parents design

(2011) Zhaoxia Yu et al.   STATISTICS IN MEDICINE

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

METAL: fast and efficient meta-analysis of genomewide association scans

(2010) C. J. Willer et al.   BIOINFORMATICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

MsrA knockout mouse exhibits abnormal behavior and brain dopamine levels

(2008) Derek B. Oien et al.   FREE RADICAL BIOLOGY AND MEDICINE

Retinoic acid regulates the human methionine sulfoxide reductase A (MSRA) gene via two distinct promoters

(2008) Iranzu Pascual et al.   GENOMICS