ArticleAmerican journal of human genetics2021
Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering.
Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Musical rhythm abilities and risk for developmental speech-language problems and disorders: epidemiological and polygenic associations.Nature communications · 2025Pooled it
- Large-scale genome-wide analyses of stuttering.Nature genetics · 2025Pooled it
- Genome-wide investigation of prosody perception: Shared genetic influences between speech rhythm, musical rhythm, and reading traits.HGG advances · 2026Article
- Article
- Transcriptomics and functional genomics implicate WNT3 in hemispheric lateralization of speech production.iScience · 2026Article
- De novo protein-coding gene variants in developmental stuttering.Molecular psychiatry · 2026Article
- Challenges and Opportunities in Characterizing the Genetics of Stuttering: From Sample Acquisition to Functional Interpretation of the Genome.Journal of speech, language, and hearing research : JSLHR · 2025Review
- Unraveling Stuttering Through a Multi-Omics Lens.Life (Basel, Switzerland) · 2025Article
- Genetic association studies using disease liabilities from deep neural networks.American journal of human genetics · 2025Article
- The clinical and genetic spectrum of paediatric speech and language disorders.Brain : a journal of neurology · 2025Article
- A Biopsychosocial Overview of Speech Disorders: Neuroanatomical, Genetic, and Environmental Insights.Biomedicines · 2025Review
- Stuttering: Our Current Knowledge, Research Opportunities, and Ways to Address Critical Gaps.Neurobiology of language (Cambridge, Mass.) · 2025Review
- Predicting neurodevelopmental disorders using machine learning models and electronic health records - status of the field.Journal of neurodevelopmental disorders · 2024Review
- Genetic association studies using disease liabilities from deep neural networks.medRxiv : the preprint server for health sciences · 2024Article
- Big data in sarcoidosis.Current opinion in pulmonary medicine · 2024Review
- Developing a phenotype risk score for tic disorders in a large, clinical biobank.Translational psychiatry · 2024Article
- The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals.medRxiv : the preprint server for health sciences · 2024Article
- A deep learning transformer model predicts high rates of undiagnosed rare disease in large electronic health systems.medRxiv : the preprint server for health sciences · 2023Article
- Stuttering as a spectrum disorder: A hypothesis.Current research in neurobiology · 2023Review
- Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.Human mutation · 2022Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Developmental stuttering is a speech disorder characterized by disruption in the forward movement of speech. This disruption includes part-word and single-syllable repetitions, prolongations, and involuntary tension that blocks syllables and words, and the disorder has a life-time prevalence of 6-12%. Within Vanderbilt's electronic health record (EHR)-linked biorepository (BioVU), only 142 individuals out of 92,762 participants (0.15%) are identified with diagnostic ICD9/10 codes, suggesting a large portion of people who stutter do not have a record of diagnosis within the EHR. To identify individuals affected by stuttering within our EHR, we built a PheCode-driven Gini impurity-based classification and regression tree model, PheML, by using comorbidities enriched in individuals affected by stuttering as predicting features and imputing stuttering status as the outcome variable. Applying PheML in BioVU identified 9,239 genotyped affected individuals (a clinical prevalence of ∼10%) for downstream genetic analysis. Ancestry-stratified GWAS of PheML-imputed affected individuals and matched control individuals identified rs12613255, a variant near CYRIA on chromosome 2 (B = 0.323; p value = 1.31 × 10
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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.