ReviewNature medicine2019
A framework for the investigation of rare genetic disorders in neuropsychiatry.
Review in Nature medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
67 citing papers in PubMed, 2 syntheses or guidelines pooled it, 136 citations in OpenAlex.
- Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment.Therapeutic innovation & regulatory science · 2026Pooled it
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
- TALE and Hox Transcription Factors Modulate Adult Behaviors in Zebrafish.Behavior genetics · 2026Article
- A framework to infer de novo exonic variants when parental genotypes are missing enhances association studies of autism.Bioinformatics (Oxford, England) · 2026Article
- Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India.Orphanet journal of rare diseases · 2026Review
- TALE and Hox Transcription Factors Control Adult Behaviors in Zebrafish.bioRxiv : the preprint server for biology · 2026Article
- The interplay between genomic copy number variants, sleep, and cognition in the general population.Translational psychiatry · 2025Article
- Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints.American journal on intellectual and developmental disabilities · 2025Article
- Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change.American journal on intellectual and developmental disabilities · 2025Article
- AI-Based Facial Phenotyping Supports a Shared Molecular Axis inInternational journal of molecular sciences · 2025Article
- Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- versus Y-chromosome aneuploidy effects in males.Psychological medicine · 2025Article
- Unraveling the enigma of mental disorders: a genetics-first approach and the role of mouse models based on rare disease-susceptible genome variants.Nagoya journal of medical science · 2025Review
- Genetic modulation of brain dynamics in neurodevelopmental disorders: the impact of copy number variations on resting-state EEG.Translational psychiatry · 2025Article
- Novel tools for comparing the architecture of psychopathology between neurogenetic disorders: An application to X- vs. Y-chromosome aneuploidy effects in males.medRxiv : the preprint server for health sciences · 2025Article
- From Serendipity to Precision: Integrating AI, Multi-Omics, and Human-Specific Models for Personalized Neuropsychiatric Care.Biomedicines · 2025Review
- High-precision machine learning identifies a reproducible functional connectivity signature of autism spectrum diagnosis in a subset of individuals.GigaScience · 2025Article
- Article
- X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes.Journal of neurodevelopmental disorders · 2024Article
- X-chromosome inactivation in human iPSCs provides insight into X-regulated gene expression in autosomes.Genome biology · 2024Article
- Challenges in multi-task learning for fMRI-based diagnosis: Benefits for psychiatric conditions and CNVs would likely require thousands of patients.Imaging neuroscience (Cambridge, Mass.) · 2024Article
7 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
26 authors at 16 institutions in 2 countries.
Funding
Abstract
De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to elucidate the mechanisms underlying neuropsychiatric disorders by investigating the pathophysiology of high-penetrance genetic risk factors. Here we seek out the best path forward for achieving these goals. We think future research will require consistent approaches across multiple RGDs and developmental stages, involving both the characterization of shared neuropsychiatric dimensions in humans and the identification of neurobiological commonalities in model systems. A coordinated and concerted effort across patients, families, researchers, clinicians and institutions, including rapid and broad sharing of data, is now needed to translate these discoveries into urgently needed therapies.
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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.