P263: HNRNP-related neurodevelopmental disorders: Expanding knowledge of known conditions and prompting novel studies into candidate genes
The HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs) are a group of NDDs caused by damaging variants in the heterogeneous nuclear ribonucleoprotein (HNRNP) gene family. To date, eight HNRNP-RNDDs have been described and multiple candidate HNRNP-RNDDs are being investigated. By approaching these disorders as a group of related disorders, we hope to uncover shared aspects that may lead to shared therapeutics.
Authors
- Antonie D. Kline (ORCID: https://orcid.org/0000-0002-7863-2994)
- Kara Murias (ORCID: https://orcid.org/0000-0002-6068-8463)
- Meena Balasubramanian (ORCID: https://orcid.org/0000-0003-1488-3695)
- Adam E. Hansen (ORCID: https://orcid.org/0000-0002-6457-1537)
- Lindsay A. Phillips (ORCID: https://orcid.org/0000-0003-3907-3226)
- Benedikt Hallgrimsson
- Billie Au
- Madelyn A. Gillentine (ORCID: https://orcid.org/0000-0002-8989-2214)
- Cassidy Da Silva
- Jennifer Bain (ORCID: https://orcid.org/0000-0001-7873-4360)
- A L Beaudet
- Snezana Plecas Maricic
Institutions
- Greater Baltimore Medical Center (US)
- University of Calgary (CA)
- Gene Therapy Laboratory (FR)
- MPN Research Foundation (US)
- Columbia University (US)
- University of Sheffield (GB)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102228
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00