P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis
This study demonstrates the application of NGP to structural brain malformations in rare disorders. While our initial analysis focused on two specific conditions, the results highlight the feasibility of extending this approach to a broader spectrum of genetic disorders. With ongoing data curation and patient recruitment through the GMDB consortium, we envision scaling this work to encompass hundreds of disorders, thereby advancing the diagnosis and understanding of rare conditions on a global scale.
Authors
- Chia‐Ming Chang (ORCID: https://orcid.org/0000-0001-8468-5251)
- Gholson J. Lyon (ORCID: https://orcid.org/0000-0002-5869-0716)
- William B. Dobyns (ORCID: https://orcid.org/0000-0002-7681-2844)
- Tzung‐Chien Hsieh (ORCID: https://orcid.org/0000-0003-3828-4419)
- Hannah Weiland
- Hsin‐Hung Chou (ORCID: https://orcid.org/0000-0003-1839-0919)
- Merle ten Hagen
- Wei-Liang Chen (ORCID: https://orcid.org/0000-0002-9754-4113)
- Jingmei Li (ORCID: https://orcid.org/0009-0009-9423-8696)
- Sun‐Yuan Hsieh (ORCID: https://orcid.org/0000-0003-4746-3179)
- Shriya Jaddu
Institutions
- University of Minnesota (US)
- National Chi Nan University (TW)
- University Hospital Bonn (DE)
- New York State Office for People With Developmental Disabilities (US)
- National Cheng Kung University (TW)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103424
- Primary Topic
- Fetal and Pediatric Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00