ArticleMolecular autism2017
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
Article in Molecular autism, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Early systemic inflammation induces neurodevelopmental disorders: results from ARTEMIS, a French multicenter study of juvenile rheumatisms and systemic autoimmune and auto-inflammatory disorders and meta-analysis.Molecular psychiatry · 2023Pooled it
- ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model.Molecular psychiatry · 2026Article
- Emerging Epigenetic Therapeutics and Diagnostics for Autism Spectrum Disorder.Current issues in molecular biology · 2025Review
- Article
- Neurodevelopmental disorders and gut-brain interactions: exploring the therapeutic potential of pycnogenol through microbial-metabolic-neural networks.Frontiers in cellular and infection microbiology · 2025Review
- Deficiency ofProceedings of the National Academy of Sciences of the United States of America · 2024Article
- The Influence of Sleep Disorders on Neurobiological Structures and Cognitive Processes in Pediatric Population with ASD and Epilepsy: A Systematic Review.European journal of investigation in health, psychology and education · 2023Review
- Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.Biomedicines · 2022Article
- The DUB Club: Deubiquitinating Enzymes and Neurodevelopmental Disorders.Biological psychiatry · 2022Review
- Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability.Scientific reports · 2022Article
- Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder.Translational psychiatry · 2022Article
- Cognitive impairment in psychiatric diseases: Biomarkers of diagnosis, treatment, and prevention.Frontiers in cellular neuroscience · 2022Review
- The BMP antagonist gremlin 1 contributes to the development of cortical excitatory neurons, motor balance and fear responses.Development (Cambridge, England) · 2021Article
- Effect of Anesthesia/Surgery on Gut Microbiota and Fecal Metabolites and Their Relationship With Cognitive Dysfunction.Frontiers in systems neuroscience · 2021Article
- Altered gut microbial profile is associated with abnormal metabolism activity of Autism Spectrum Disorder.Gut microbes · 2020Article
- Simultaneous Blockade of Histamine HBiomolecules · 2020Article
- The Dual-Active Histamine HInternational journal of molecular sciences · 2020Article
- Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.Nucleic acids research · 2020Article
- Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.American journal of medical genetics. Part A · 2020Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundAutism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemia, i.e., elevated serotonin (5-hydroxytryptamine or 5-HT) in whole blood, and ASD. However, the genetic determinants of blood 5-HT level and their relationship to ASD are largely unknown.
methodsIn this study, pursuing the hypothesis that de novo variants (DNVs) and rare risk alleles acting in a recessive mode may play an important role in predisposition of hyperserotonemia in people with ASD, we carried out whole exome sequencing (WES) in 116 ASD parent-proband trios with most (107) probands having 5-HT measurements.
resultsCombined with published ASD DNVs, we identified
conclusionsOur study identified
Indexed as
Identifiers
What OpenQuestion holds
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.