Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

(2022) Vassily Trubetskoy et al.   NATURE

Rare coding variants in ten genes confer substantial risk for schizophrenia

(2022) Tarjinder Singh et al.   NATURE

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

(2021) Xiaoming Jia et al.   MOLECULAR PSYCHIATRY

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

(2021) Niamh Mullins et al.   NATURE GENETICS

Genetic contributions to bipolar disorder: current status and future directions

(2021) Kevin S. O'Connell et al.   PSYCHOLOGICAL MEDICINE

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

(2020) Daniel P. Howrigan et al.   NATURE NEUROSCIENCE

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates

(2020) Jae Hoon Sul et al.   Translational Psychiatry

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

The GTEx Consortium atlas of genetic regulatory effects across human tissues

(2020)   SCIENCE

Genome-wide association study identifies 30 loci associated with bipolar disorder

(2019) Eli A. Stahl et al.   NATURE GENETICS

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

(2019) Yen-Chen Anne Feng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

(2019) F. Kyle Satterstrom et al.   NATURE NEUROSCIENCE

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

(2018) Andrea Ganna et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

Analysis of shared heritability in common disorders of the brain

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Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records

(2018) Chia-Yen Chen et al.   Translational Psychiatry

Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

(2018) Alexander W. Charney et al.   BIOLOGICAL PSYCHIATRY

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing

(2018) Thomas Husson et al.   Translational Psychiatry

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors

(2017) C Cruceanu et al.   MOLECULAR PSYCHIATRY

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

(2017) Tarjinder Singh et al.   NATURE GENETICS

The prevalence and burden of bipolar disorder: findings from the Global Burden of Disease Study 2013

(2016) Alize J Ferrari et al.   BIPOLAR DISORDERS

Subcortical volumetric abnormalities in bipolar disorder

(2016) D P Hibar et al.   MOLECULAR PSYCHIATRY

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

(2016) Andrea Ganna et al.   NATURE NEUROSCIENCE

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

Meta-analysis of the heritability of human traits based on fifty years of twin studies

(2015) Tinca J C Polderman et al.   NATURE GENETICS

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

(2015) Stephan J. Sanders et al.   NEURON

Glycogen synthase kinase-3 (GSK3): Regulation, actions, and diseases

(2015) Eleonore Beurel et al.   PHARMACOLOGY & THERAPEUTICS

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

(2015) Justin Cotney et al.   Nature Communications

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

Schizoaffective Disorder in the DSM-5

(2013) Dolores Malaspina et al.   SCHIZOPHRENIA RESEARCH

Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings

(2012) Robert A. Power et al.   JAMA Psychiatry

Inhibition of GSK3 by lithium, from single molecules to signaling networks

(2012) Laure Freland et al.   Frontiers in Molecular Neuroscience

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Instrumenting the health care enterprise for discovery research in the genomic era

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