ReviewAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2014
Arguments for the sake of endophenotypes: examining common misconceptions about the use of endophenotypes in psychiatric genetics.
Review in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers, 3 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
76 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Beyond fear circuits: multiscale neurobiological architecture of panic disorder.Molecular psychiatry · 2026Pooled it
- ERP indices of performance monitoring and feedback processing in psychosis: A meta-analysis.International journal of psychophysiology : official journal of the International Organization of Psychophysiology · 2018Pooled it
- Heritability of Neuropsychological Measures in Schizophrenia and Nonpsychiatric Populations: A Systematic Review and Meta-analysis.Schizophrenia bulletin · 2017Pooled it
- Translating genome-wide association studies at multiple scales: Drug target prioritization, cellular architectures, and organ imaging.Cell genomics · 2026Review
- Latent State-Trait and Latent Growth Curve Modeling of Smooth Pursuit Eye Movements.Psychophysiology · 2026Article
- Bistable Perception Discriminates Between Depressive Patients, Controls, Schizophrenia Patients, and Their Siblings.Schizophrenia bulletin · 2025Article
- Endophenotype-Informed Association Analyses for Liver Fat Accumulation and Metabolic Dysfunction in the Fels Longitudinal Study.International journal of molecular sciences · 2025Article
- Genetic Vulnerability to Social Anxiety Disorder.Current topics in behavioral neurosciences · 2025Review
- Endophenotype 2.0: updated definitions and criteria for endophenotypes of psychiatric disorders, incorporating new technologies and findings.Translational psychiatry · 2024Review
- Heritability estimation of subcortical volumes in a multi-ethnic multi-site cohort study.bioRxiv : the preprint server for biology · 2024Article
- Three-variable systems: An integrative moderation and mediation framework for developmental psychopathology.Development and psychopathology · 2023Article
- Genetic Influences on Cognitive Dysfunction in Schizophrenia.Current topics in behavioral neurosciences · 2023Article
- Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder: Shared or Unique Neurocognitive Profiles?Research on child and adolescent psychopathology · 2023Article
- Cognitive and neuropsychiatric endophenotypes in amyotrophic lateral sclerosis.Brain communications · 2023Article
- MICEmi: A method to identify cognitive endophenotypes of mental illnesses.European psychiatry : the journal of the Association of European Psychiatrists · 2022Review
- A cross-cohort replicable and heritable latent dimension linking behaviour to multi-featured brain structure.Communications biology · 2022Article
- Spironolactone alleviates schizophrenia-related reversal learning in Tcf4 transgenic mice subjected to social defeat.Schizophrenia (Heidelberg, Germany) · 2022Article
- The P-factor and its genomic and neural equivalents: an integrated perspective.Molecular psychiatry · 2022Review
- Genome-wide mapping of brain phenotypes in extended pedigrees with strong genetic loading for bipolar disorder.Molecular psychiatry · 2021Article
- Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes.International journal of molecular sciences · 2021Review
16 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
8 authors.
Funding
Abstract
Endophenotypes are measurable biomarkers that are correlated with an illness, at least in part, because of shared underlying genetic influences. Endophenotypes may improve our power to detect genes influencing risk of illness by being genetically simpler, closer to the level of gene action, and with larger genetic effect sizes or by providing added statistical power through their ability to quantitatively rank people within diagnostic categories. Furthermore, they also provide insight into the mechanisms underlying illness and will be valuable in developing biologically-based nosologies, through efforts such as RDoC, that seek to explain both the heterogeneity within current diagnostic categories and the overlapping clinical features between them. While neuroimaging, electrophysiological, and cognitive measures are currently most used in psychiatric genetic studies, researchers currently are attempting to identify candidate endophenotypes that are less genetically complex and potentially closer to the level of gene action, such as transcriptomic and proteomic phenotypes. Sifting through tens of thousands of such measures requires automated, high-throughput ways of assessing, and ranking potential endophenotypes, such as the Endophenotype Ranking Value. However, despite the potential utility of endophenotypes for gene characterization and discovery, there is considerable resistance to endophenotypic approaches in psychiatry. In this review, we address and clarify some of the common issues associated with the usage of endophenotypes in the psychiatric genetics community.
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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.