ArticleNature genetics2022
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups.
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Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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45citing papers in PubMed, 1 pooled it
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.Nature genetics · 2023Pooled it
- Attention deficit hyperactivity disorder: transition to psychotic disorders.Molecular psychiatry · 2026Review
- Treatment Patterns and Clinical Outcomes in Youth With Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.JAACAP open · 2026Article
- Investigating the associations between neurodevelopmental and psychiatric genetic liability and adverse social and functional outcomes across childhood, adolescence and young-adulthood.Molecular psychiatry · 2026Article
- ADHD Symptoms in Parents of Children With or Without ADHD: Prospective Association With Children's Quality of Life and Emotional and Conduct Problems (EPINED Cohort).Research on child and adolescent psychopathology · 2026Article
- Sleep in Young Children With Autism, ADHD and Combined Presentations.Autism research : official journal of the International Society for Autism Research · 2026Article
- Preservation of Higher-Order Cognition in Autistic Females: Evidence from Two Deeply-Phenotyped Cohorts in Hong Kong and the United States.Research square · 2026Article
- Uncovering causal associations between plasma proteins and psychiatric disorders and identifying comorbidity biomarkers: a mendelian randomization study.European archives of psychiatry and clinical neuroscience · 2026Article
- The Unique Roles of Executive Function in Co-Occurring Psychopathologies in Autism.Autism research : official journal of the International Society for Autism Research · 2026Article
- Global Statistics of Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Conduct Disorder among School-Age Children from 1990-2021, with Forecasts to 2040.Neuroepidemiology · 2026Article
- Article
- From genes to networks: neurobiological bases of neurodiversity across common developmental disorders.Frontiers in neuroscience · 2026Review
- Genetic risk for neurodevelopmental disorders as a potential factor affecting antipsychotic responsiveness in schizophrenia: a postmortem brain study.Frontiers in psychiatry · 2026Article
- Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score.JAACAP open · 2025Article
- The Psychiatric Genomics Consortium: discoveries and directions.The lancet. Psychiatry · 2025Review
- Functional Neurogenomics to Dissect Disease Mechanisms Across Models.Annual review of genomics and human genetics · 2025Review
- FarmGTEx TWAS-server: An Interactive Web Server for Customized TWAS Analysis.Genomics, proteomics & bioinformatics · 2025Article
- The challenge and promise of disentangling neurodevelopmental conditions a commentary on Davis et al. (2024).Journal of child psychology and psychiatry, and allied disciplines · 2025Article
- The selenocysteine-containing protein SELENOT maintains dopamine signaling in the midbrain to protect mice from hyperactivity disorder.The EMBO journal · 2025Article
- Genetic advances in neurodevelopmental disorders.Medical review (2021) · 2025Review
Corrections and comments
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Authors and funding
34 authors.
Manuel Mattheisen *Department of Biomedicine - Human Genetics and the iSEQ Center, Aarhus University, Aarhus, Denmark. manuel.mattheisen@gmail.com.ORCID http://orcid.org/0000-0002-8442-493X
Jakob Grove *Department of Biomedicine - Human Genetics and the iSEQ Center, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-2284-5744
Thomas D Als *Department of Biomedicine - Human Genetics and the iSEQ Center, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2963-1928
Joanna Martin *MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
Georgios VoloudakisCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-5729-632X
Sandra MeierDepartment of Biomedicine - Human Genetics and the iSEQ Center, Aarhus University, Aarhus, Denmark.
Ditte DemontisDepartment of Biomedicine - Human Genetics and the iSEQ Center, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-9124-2766
Jaroslav BendlCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-9989-2720
Raymond WaltersAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0001-8422-6530
Caitlin E CareyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Anders RosengrenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-6682-1288
Nora I StromDepartment of Biomedicine - Human Genetics and the iSEQ Center, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-5261-8852
Mads Engel HaubergCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0003-4873-2764
Biao ZengCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Gabriel HoffmanCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-0957-0224
Wen ZhangCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Jonas Bybjerg-GrauholmThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-1705-4008
Marie Bækvad-HansenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Esben AgerboThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-2849-524X
Bru CormandDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Catalonia, Spain.ORCID http://orcid.org/0000-0001-5318-4382
Merete NordentoftThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Thomas WergeThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-1829-0766
Ole MorsThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
David M HougaardThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.ORCID http://orcid.org/0000-0001-5928-3517
Joseph D BuxbaumDepartment of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-8898-8313
Stephen V FaraoneDepartment of Psychiatry, State University of New York Upstate Medical University, Syracuse, NY, USA.
Barbara FrankeDepartment of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID http://orcid.org/0000-0003-4375-6572
Søren DalsgaardNational Centre for Register-Based Research, Aarhus University, Aarhus, Denmark.ORCID http://orcid.org/0000-0003-4659-0969
Preben B MortensenThe Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
Elise B RobinsonAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Panos RoussosCenter for Disease Neurogenomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0002-4640-6239
Benjamin M NealeAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-1513-6077
Mark J DalyAnalytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Anders D BørglumDepartment of Biomedicine - Human Genetics and the iSEQ Center, Aarhus University, Aarhus, Denmark. anders@biomed.au.dk.ORCID http://orcid.org/0000-0001-8627-7219
Funding
SLE Treatment with N-acetylcysteineU01AR076092 · NIAMS · UPSTATE MEDICAL UNIVERSITY · PI Michael P McDermott, Andras Perl · 2020 to 2026
$7.9MThe 3D genome in transcriptional regulation across the postnatal life span, with implications for schizophrenia and bipolar disorderU01MH116442 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AKBARIAN, SCHAHRAM, DRACHEVA, STELLA · 2018 to 2022
$5.9M2/7 Psychiatric Genomics Consortium: Advancing Discovery and ImpactR01MH124851 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI BOERGLUM, ANDERS, DAVIS, LEA K · 2021 to 2025
$5.4MMultiethnic genomic epigenomic and transcriptomic fine-mapping and functional validation analysis of schizophrenia and bipolar disorder risk lociR01MH125246 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ROUSSOS, PANAGIOTIS · 2021 to 2025
$5.0MRisk genetic variants and cis regulation of gene expression in Bipolar DisorderR01MH109677 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ROUSSOS, PANAGIOTIS · 2016 to 2020
$4.6MDiscoveries in ADHD genomics: Help or hype in clinical settings?R01MH116037 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DOYLE, ALYSA E · 2019 to 2023
$4.4MGenetic Predictors, Transcriptomic Biomarkers, & Neurobiological Signatures of Resilience to Alzheimer's DiseaseR01AG064955 · NIA · UPSTATE MEDICAL UNIVERSITY · PI FENNEMA-NOTESTINE, CHRISTINE, GLATT, STEPHEN J · 2019 to 2023
$3.8MGenetic & Environmental Predictors of Tourette Syndrome & OCD in DenmarkR01MH105500 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CROWLEY, JAMES JOSEPH · 2015 to 2019
$3.0MOCD: Novel Comparative Genomic Approaches to Identify Disease and Treatment MechanismsR01MH110427 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CROWLEY, JAMES JOSEPH · 2016 to 2021
$3.0M5/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109514 · NIMH · CARDIFF UNIVERSITY · PI O'DONOVAN, MICHAEL · 2016 to 2020
$2.9M3/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109536 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CHARNEY, ALEXANDER W, HUCKINS, LAURA MARIANNE · 2016 to 2020
$2.7MCOVID and Translational Science supercomputer (CATS)S10OD030463 · OD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KOVATCH, PATRICIA · 2021 to 2021
$2.0MNIAMS NIH HHS U01 AR076092NIA NIH HHS R01 AG064955NIH HHS S10 OD026880NIH HHS S10 OD030463NIMH NIH HHS K08 MH122911NIMH NIH HHS R01 MH105500NIMH NIH HHS R01 MH109677NIMH NIH HHS R01 MH110427NIMH NIH HHS R01 MH116037NIMH NIH HHS R01 MH124851NIMH NIH HHS R01 MH125246NIMH NIH HHS U01 MH109514NIMH NIH HHS U01 MH109536NIMH NIH HHS U01 MH116442NIMH NIH HHS U01 MH125050
Abstract
Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are highly heritable neurodevelopmental conditions, with considerable overlap in their genetic etiology. We dissected their shared and distinct genetic etiology by cross-disorder analyses of large datasets. We identified seven loci shared by the disorders and five loci differentiating them. All five differentiating loci showed opposite allelic directions in the two disorders and significant associations with other traits, including educational attainment, neuroticism and regional brain volume. Integration with brain transcriptome data enabled us to identify and prioritize several significantly associated genes. The shared genomic fraction contributing to both disorders was strongly correlated with other psychiatric phenotypes, whereas the differentiating portion was correlated most strongly with cognitive traits. Additional analyses revealed that individuals diagnosed with both ASD and ADHD were double-loaded with genetic predispositions for both disorders and showed distinctive patterns of genetic association with other traits compared with the ASD-only and ADHD-only subgroups. These results provide insights into the biological foundation of the development of one or both conditions and of the factors driving psychopathology discriminatively toward either ADHD or ASD.
Indexed as
Attention Deficit Disorder with HyperactivityAutism Spectrum DisorderBrainGenetic Predisposition to DiseaseHumansPhenotype
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