>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

3 Publications

Brain Gene Registry investigators are actively publishing on analyses using registry data:

• 3 peer-reviewed publications:

  • 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
• Additional publications underway.

Highlights will be updated every quarter. Information current as of April 18, 2024.