Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome
Overall, we emphasize the need for combining genetic and functional testing of VPS13B missense variants to ensure accurate molecular diagnosis and personalized medical care for CS patients.
Authors
- Jürgen Kohlhase
- Jirko Kühnisch (ORCID: https://orcid.org/0000-0003-4744-5421)
- Zachary Meyer (ORCID: https://orcid.org/0000-0003-2372-1735)
- Gudrun Schottmann (ORCID: https://orcid.org/0000-0002-2641-0847)
- Nastassja Himmelreich (ORCID: https://orcid.org/0000-0002-1895-625X)
- Wenke Seifert (ORCID: https://orcid.org/0000-0003-1432-9862)
- Claus‐Eric Ott (ORCID: https://orcid.org/0000-0003-3627-3791)
- Eun Kyung Suk
- Carmen Martínez Almudéver
- Julia C. M. Knop
Institutions
- Max Delbrück Center (DE)
- Humboldt-Universität zu Berlin (DE)
- Vivantes Klinikum (DE)
- Praxis für Humangenetik Tübingen (DE)
- CeGaT (Germany) (DE)
- Freie Universität Berlin (DE)
- Charité - Universitätsmedizin Berlin (DE)
Publication Details
- Journal
- Frontiers in Neuroscience
- Published
- 2024-12-11
- DOI
- https://doi.org/10.3389/fnins.2024.1488133
- Citations
- 1
- Primary Topic
- Blood disorders and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- Deutsche Forschungsgemeinschaft