SynthesisNature genetics2022
Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.
Open access · bronzeAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
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125citing papers in PubMed, 4 pooled it
35.2field-weighted citation impact, top 1% of its field
What it found
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Who cites it
125 citing papers in PubMed, 4 syntheses or guidelines pooled it, 200 citations in OpenAlex.
- Integrative genetic and liver transcriptomic analyses identify TRIB1AL as a target for steatotic liver disease.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Meta-analysis of the brain transcriptomes of multiple genetic mouse models of schizophrenia highlights dysregulation in striatum and thalamus.Translational psychiatry · 2025Pooled it
- Pooled it
- Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank.Nature communications · 2025Pooled it
- Genetic architecture of postpartum psychosis: from common to rare genetic variation.Molecular psychiatry · 2026Article
- Common genetic variants are associated with increased likelihood of latent co-occurring neurodevelopmental and mental health factors among autistic individuals.Molecular psychiatry · 2026Article
- The contribution of common and rare genetic variation to emotional and behavioural symptoms in childhood and adolescence.Molecular psychiatry · 2026Article
- Whole-exome sequencing in individuals with obsessive-compulsive disorder and chronic tic disorders identifies 36 large-effect risk genes.Nature neuroscience · 2026Article
- Full-length single-cell spatial transcriptomics reveals spatial and cell-type-specific transcript isoforms in the primate brain.Nature methods · 2026Article
- Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder.Research square · 2026Article
- Potential for Genomics to Help Guide Preventive Strategies in Psychiatry.JAMA psychiatry · 2026Article
- Bipolar disorder-associated variants in RAB5A disrupt its function in endolysosomal trafficking in fruit fly and mammalian systems.Research square · 2026Article
- Roles of autophagy in brain homeostasis and disease.Nature neuroscience · 2026Review
- Enhanced axonal mitochondrial motility and neural activity-induced energy deficits destabilize synaptic transmission in models of bipolar disorder.Nature communications · 2026Article
- Article
- Assessing molecular gene by treatment interactions using a population of neural progenitors exposed to valproic acid and lithium.Molecular psychiatry · 2026Article
- Convergent coexpression reveals shared biological mechanisms underlying common and rare variant risk in six neuropsychiatric disorders.Molecular psychiatry · 2026Article
- A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.Nature genetics · 2026Article
- Schizophrenia and bipolar disorder risk gene AKAP11 sustains cognitive function by regulating TFEB-mediated autophagy.Cell death and differentiation · 2026Article
- Developmentally dynamic, non-convergent transcriptomic profiles in CNV models for schizophrenia risk.Molecular psychiatry · 2026Article
65 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
47 authors at 20 institutions in 6 countries.
Duncan S PalmerAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. duncan.stuart.palmer@gmail.com.ORCID http://orcid.org/0000-0002-0824-0047
Daniel P HowriganAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7721-4838
Sinéad B ChapmanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-9454-2737
Rolf AdolfssonDepartment of Clinical Sciences, Psychiatry, Umea University, Umea, Sweden.
Nick BassDivision of Psychiatry, University College London, London, UK.
Douglas BlackwoodDivision of Psychiatry, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-4076-9346
Marco P M BoksDepartment of Psychiatry, Brain Center UMC Utrecht, Utrecht, the Netherlands.ORCID http://orcid.org/0000-0001-6163-7484
Chia-Yen ChenAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0001-9548-5597
Claire ChurchhouseAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Aiden P CorvinTrinity College Dublin, Dublin, Ireland.
Nicholas CraddockMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
David CurtisUCL Genetics Institute, University College London, London, UK.ORCID http://orcid.org/0000-0002-4089-9183
Arianna Di FlorioDivision of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
Faith DickersonSheppard Pratt, Baltimore, MD, USA.
Nelson B FreimerDepartment of Psychiatry and Biobehavioral Science, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0003-3586-6587
Fernando S GoesDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-6262-8264
Xiaoming JiaWeill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Ian JonesMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-5821-5889
Lisa JonesDepartment of Psychological Medicine, University of Worcester, Worcester, UK.ORCID http://orcid.org/0000-0002-5122-8334
Lina JonssonDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
Rene S KahnDivision of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-5909-8004
Mikael LandénDepartment of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.ORCID http://orcid.org/0000-0002-4496-6451
Adam E LockeDivision of Genomics & Bioinformatics and McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.ORCID http://orcid.org/0000-0001-6227-198X
Andrew M McIntoshDivision of Psychiatry, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0002-0198-4588
Andrew McQuillinDivision of Psychiatry, University College London, London, UK.ORCID http://orcid.org/0000-0003-1567-2240
Derek W MorrisCentre for Neuroimaging, Cognition and Genomics, Discipline of Biochemistry, National University of Ireland Galway, Galway, Ireland.ORCID http://orcid.org/0000-0002-3413-570X
Michael C O'DonovanMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0001-7073-2379
Roel A OphoffDepartment of Psychiatry and Biobehavioral Science, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-8287-6457
Michael J OwenMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0003-4798-0862
Nancy L PedersenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Danielle PosthumaDepartment of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU Amsterdam, Amsterdam, the Netherlands.ORCID http://orcid.org/0000-0001-7582-2365
Andreas ReifDepartment of Psychiatry, Psychosomatic Medicine and Psychiatry, University Hospital Frankfurt - Goethe University, Frankfurt, Germany.ORCID http://orcid.org/0000-0002-0992-634X
Neil RischInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Catherine SchaeferDivision of Research, Kaiser Permanente Northern California, Oakland, CA, USA.ORCID http://orcid.org/0000-0003-2644-055X
Laura ScottDepartment of Biostatistics and Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.ORCID http://orcid.org/0000-0002-4886-5084
Tarjinder SinghAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0003-0601-6815
Jordan W SmollerPsychiatric and Neurodevelopmental Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-0381-6334
Matthew SolomonsonProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
David St ClairInstitute for Medical Sciences, University of Aberdeen, Aberdeen, UK.
Eli A StahlDivision of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Annabel VreekerDepartment of Child and Adolescent Psychiatry/Psychology, Erasmus MC Sophia Children Hospital, Erasmus University, Rotterdam, the Netherlands.
James T R WaltersMRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-6980-4053
Weiqing WangDivision of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-1565-0148
Nicholas A WattsAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Robert YolkenStanley Division of Developmental Neurovirology, Johns Hopkins University, Baltimore, MD, USA.
Peter P ZandiDepartment of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0001-8423-2623
Benjamin M NealeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA. bneale@broadinstitute.org.ORCID http://orcid.org/0000-0003-1513-6077
Broad Institute · USCardiff University · GBIcahn School of Medicine at Mount Sinai · USJohns Hopkins University · USKaiser Permanente · USKarolinska Institutet · SEUniversity College London · GBUniversity of California, Los Angeles · USUniversity of Edinburgh · GBAmsterdam Neuroscience · NLCentre for Mental Health · GBErasmus MC - Sophia Children’s Hospital · NLGoethe University Frankfurt · DEHarvard University · USJames S. McDonnell Foundation · USOllscoil na Gaillimhe – University of Galway · IEQueen Mary University of London · GBSheppard and Enoch Pratt Hospital · USTrinity College Dublin · IEUmeå University · SE
Funding
A Resource for Genetic Epidemiology Research in Adult Health and AgingRC2AG036607 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI RISCH, NEIL J., SCHAEFER, CATHERINE ANN · 2009 to 2010
$24.8MMulti-Ethnic Genome-Wide Study of Bipolar DisorderR01MH085543 · NIMH · KAISER FOUNDATION RESEARCH INSTITUTE · PI SCHAEFER, CATHERINE ANN · 2008 to 2012
$12.4MInternational Cohort Collection for Bipolar DisorderR01MH085542 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SMOLLER, JORDAN W · 2008 to 2012
$10.7M1/2 Genomic Strategies to Identify High-impact Psychiatric Risk VariantsU01MH105578 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B., GESCHWIND, DANIEL H · 2014 to 2018
$8.5MStatistical methods to localize disease heritability and identify biological mechanismsR37MH107649 · NIMH · BROAD INSTITUTE, INC. · PI Benjamin Michael Neale · 2019 to 2026
$7.0MGenomic Studies of Bipolar Disorder in a Large Cohort from The NetherlandsR01MH090553 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI OPHOFF, ROEL A · 2010 to 2014
$6.0M2/2 Large-Scale Genetic Studies of Schizophrenia in SwedenR01MH095034 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI STAHL, ELI A · 2012 to 2019
$3.6MQuantifying and Characterizing the shared genetic contribution to common cancersU01CA194393 · NCI · UNIVERSITY OF WASHINGTON · PI KRAFT, PETER, LINDSTROEM, SARA · 2015 to 2023
$3.0MThe Bipolar Sequencing Consortium for Combined Analyses and Follow-Up - SupplementR01MH110437 · NIMH · JOHNS HOPKINS UNIVERSITY · PI BOEHNKE, MICHAEL L, FREIMER, NELSON B. · 2016 to 2018
$2.5MStatistical Methods for the Design and Interpretation of Deep Resequencing StudieR01MH084676 · NIMH · BRIGHAM AND WOMEN'S HOSPITAL · PI SUNYAEV, SHAMIL · 2008 to 2010
$1.7MLeveraging cross-cancer shared heritability to better understand the genetic architecture of cancerR01CA194393 · NCI · UNIVERSITY OF WASHINGTON · PI KRAFT, PETER, LINDSTROEM, SARA · 2020 to 2022
$1.6MMedical Research Council G1000708Medical Research Council MR/L010305/1Medical Research Council MR/P005748/1NCI NIH HHS R01 CA194393NCI NIH HHS U01 CA194393NIA NIH HHS RC2 AG036607NIMH NIH HHS R01 MH084676NIMH NIH HHS R01 MH085542NIMH NIH HHS R01 MH085543NIMH NIH HHS R01 MH090553NIMH NIH HHS R01 MH095034NIMH NIH HHS R01 MH110437NIMH NIH HHS R37 MH107649NIMH NIH HHS U01 MH105578
Abstract
We report results from the Bipolar Exome (BipEx) collaboration analysis of whole-exome sequencing of 13,933 patients with bipolar disorder (BD) matched with 14,422 controls. We find an excess of ultra-rare protein-truncating variants (PTVs) in patients with BD among genes under strong evolutionary constraint in both major BD subtypes. We find enrichment of ultra-rare PTVs within genes implicated from a recent schizophrenia exome meta-analysis (SCHEMA; 24,248 cases and 97,322 controls) and among binding targets of CHD8. Genes implicated from genome-wide association studies (GWASs) of BD, however, are not significantly enriched for ultra-rare PTVs. Combining gene-level results with SCHEMA, AKAP11 emerges as a definitive risk gene (odds ratio (OR) = 7.06, P = 2.83 × 10
Indexed as
Bipolar DisorderSchizophreniaA Kinase Anchor ProteinsExomeExome SequencingGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansAKAP11 protein, humanA Kinase Anchor Proteins
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