ArticleNature communications2021
Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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Who cites it
18 citing papers in PubMed, 38 citations in OpenAlex.
- Deciphering cell type-specific causal genetic effects on brain imaging-derived phenotypes and disorders with single-cell Mendelian randomization.PLoS computational biology · 2026Article
- Disturbances of paraventricular thalamic nucleus neurons in bipolar disorder revealed by single-nucleus analysis.Nature communications · 2026Article
- Systematic evaluation of de novo mutation calling tools using whole genome sequencing data.Briefings in bioinformatics · 2025Article
- Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing.Psychiatry and clinical neurosciences · 2025Article
- Single-molecule DNA analysis implicates brain mitochondria pathology in bipolar disorder.Molecular psychiatry · 2025Article
- Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.Genome medicine · 2025Article
- Family study of bipolar disorder with comorbid anxiety disorder points toPCN reports : psychiatry and clinical neurosciences · 2025Article
- A Brief Introduction to Genomics and Single-cell Analysis for Psychiatric Disorders.Juntendo medical journal · 2025Review
- Copy number variations in RNF216 and postsynaptic membrane-associated genes are associated with bipolar disorder: a case-control study in the Japanese population.Psychiatry and clinical neurosciences · 2025Article
- Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman.International journal of molecular sciences · 2024Article
- Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.NPJ genomic medicine · 2024Article
- Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.International journal of molecular sciences · 2024Article
- Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.American journal of human genetics · 2024Article
- Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder.Molecular psychiatry · 2023Article
- Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.Scientific reports · 2022Article
- The Role of the Histone Variant H2A.Z in Metazoan Development.Journal of developmental biology · 2022Review
- The Current Progress of Psychiatric Genomics.Juntendo Iji zasshi = Juntendo medical journal · 2022Review
- Bipolar Disorder: From Pathophysiology to Treatment.Juntendo Iji zasshi = Juntendo medical journal · 2022Review
Corrections and comments
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Authors and funding
23 authors at 8 institutions in 2 countries.
Funding
Abstract
Bipolar disorder is a severe mental illness characterized by recurrent manic and depressive episodes. To better understand its genetic architecture, we analyze ultra-rare de novo mutations in 354 trios with bipolar disorder. For germline de novo mutations, we find significant enrichment of loss-of-function mutations in constrained genes (corrected-P = 0.0410) and deleterious mutations in presynaptic active zone genes (FDR = 0.0415). An analysis integrating single-cell RNA-sequencing data identifies a subset of excitatory neurons preferentially expressing the genes hit by deleterious mutations, which are also characterized by high expression of developmental disorder genes. In the analysis of postzygotic mutations, we observe significant enrichment of deleterious ones in developmental disorder genes (P = 0.00135), including the SRCAP gene mutated in two unrelated probands. These data collectively indicate the contributions of both germline and postzygotic mutations to the risk of bipolar disorder, supporting the hypothesis that postzygotic mutations of developmental disorder genes may contribute to bipolar disorder.
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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.