ArticleCell systems2021
A convergent molecular network underlying autism and congenital heart disease.
Article in Cell systems, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed.
- Genome-wide association study of delay discounting identifies 11 loci and reveals transdiagnostic associations across mental and physical health.Molecular psychiatry · 2026Article
- Common and rare genetic variants show network convergence for a majority of human traits.EMBO reports · 2026Article
- Dilated cardiomyopathy-associated RNA-binding motif protein 20 regulates long pre-mRNAs in neurons.eLife · 2026Article
- RNA stability: a novel perspective on gene regulatory networks in bovine mastitis.BMC genomics · 2025Article
- Protein-Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain-Expressed Gene Modules Relevant to Autism Pathophysiology.Autism research : official journal of the International Society for Autism Research · 2025Article
- Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.medRxiv : the preprint server for health sciences · 2025Article
- Ciliary biology intersects autism and congenital heart disease.Development (Cambridge, England) · 2025Article
- Intersecting impact of CAG repeat and huntingtin knockout in stem cell-derived cortical neurons.Neurobiology of disease · 2025Article
- Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impact.iScience · 2025Article
- Convergence of autism proteins at the cilium.bioRxiv : the preprint server for biology · 2025Article
- Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.Journal of the American Heart Association · 2024Review
- Rare and common variants associated with alcohol consumption identify a conserved molecular network.Alcohol, clinical & experimental research · 2024Article
- Modelling human genetic disorders in Xenopus tropicalis.Disease models & mechanisms · 2024Review
- Rare and Common Variants Associated with Alcohol Consumption Identify a Conserved Molecular Network.bioRxiv : the preprint server for biology · 2024Article
- Genome-wide association studies of human and rat BMI converge on synapse, epigenome, and hormone signaling networks.Cell reports · 2023Article
- Mental health in adult congenital heart disease.International journal of cardiology. Congenital heart disease · 2023Review
- Mapping the common gene networks that underlie related diseases.Nature protocols · 2023Review
- Challenges and opportunities for precision medicine in neurodevelopmental disorders.Advanced drug delivery reviews · 2022Review
- Systems analysis of de novo mutations in congenital heart diseases identified a protein network in the hypoplastic left heart syndrome.Cell systems · 2022Article
- Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.Nature communications · 2022Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Patients with neurodevelopmental disorders, including autism, have an elevated incidence of congenital heart disease, but the extent to which these conditions share molecular mechanisms remains unknown. Here, we use network genetics to identify a convergent molecular network underlying autism and congenital heart disease. This network is impacted by damaging genetic variants from both disorders in multiple independent cohorts of patients, pinpointing 101 genes with shared genetic risk. Network analysis also implicates risk genes for each disorder separately, including 27 previously unidentified genes for autism and 46 for congenital heart disease. For 7 genes with shared risk, we create engineered disruptions in Xenopus tropicalis, confirming both heart and brain developmental abnormalities. The network includes a family of ion channels, such as the sodium transporter SCN2A, linking these functions to early heart and brain development. This study provides a road map for identifying risk genes and pathways involved in co-morbid conditions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.