Registry Highlights
The Brain Gene Registry’s key accomplishments:
>100 Genes
The Brain Gene Registry currently contains data from participants with variants in over 100 genes.
12 IDDRCs
Enrollment spans 12 different IDDRCs across the nation.
13 Data Access Requests
The Registry has received 13 data access requests from investigators interested in analyzing the data.
5 Collaboration Requests
The Brain Gene Registry has received 5 requests from investigators interested in research collaborations to help advance the vision of the consortium.
9 Abstracts Submitted
Research output generated by Brain Gene Registry investigators include:
- 4 abstracts presented at:
- ASHG 2022
- Gatlinburg 2023
- Congress of the European Pediatric Neurology Society 2023
- Gordon Research Conference 2023
8 Publications
Brain Gene Registry investigators are actively publishing on analyses using registry data:
- 8 peer-reviewed publications:
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Clinical variants paired with phenotype: A rich resource for brain gene curation
- Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder
- The Brain Gene Registry: a data snapshot
- Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models
- The expanding clinical and genetic spectrum of DYNC1H1-related disorders
- Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data From the National Brain Gene Registry
- SYNGAP1 Syndrome and the Brain Gene Registry
- Behavioural phenotype of SYNGAP1-related intellectual disability
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- Additional publications underway:
External Recognition
The significance of the Brain Gene Registry for advancing research on rare diseases has been recognized by external parties:
Highlights will be updated every quarter. Information current as of May 21, 2025.