Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel <i>COL4A6</i> variants
Our findings highlight the importance of recognizing dual molecular diagnoses to untangle blended phenotypes, as well as the diagnostic relevance of synonymous variants with predicted splicing effects.
Authors
- Gaurav K. Varshney (ORCID: https://orcid.org/0000-0002-0429-1904)
- Julia Preobraschenski (ORCID: https://orcid.org/0000-0002-1825-0433)
- Gabriela E. Oprea (ORCID: https://orcid.org/0000-0001-5467-5247)
- Sheng‐Jia Lin (ORCID: https://orcid.org/0000-0002-7559-6529)
- Barbara Vona (ORCID: https://orcid.org/0000-0002-6719-3447)
- Constantin Cretu (ORCID: https://orcid.org/0000-0002-6466-176X)
- Maqbool Hussain (ORCID: https://orcid.org/0000-0002-8850-3467)
- Shazia Riaz (ORCID: https://orcid.org/0000-0001-9016-0478)
- Abolfazl Rad (ORCID: https://orcid.org/0000-0001-8627-8828)
- Daniel Owrang
- Kevin Huang (ORCID: https://orcid.org/0000-0002-2512-7812)
- Nadia Waheed (ORCID: https://orcid.org/0000-0002-5443-6569)
- Hafiz Saad Bin Mustafa
Institutions
- Broad Institute (US)
- Brigham and Women's Hospital (US)
- University of Karachi (PK)
- German Primate Center (DE)
- Oklahoma Medical Research Foundation (US)
- Collaborative Research Group (AU)
- Universitätsmedizin Göttingen (DE)
- European Neuroscience Institute Göttingen (DE)
- University of Rostock (DE)
- Pakistan Institute of Medical Sciences (PK)
- University of Göttingen (DE)
Publication Details
- Journal
- QJM
- Published
- 2025-10-15
- DOI
- https://doi.org/10.1093/qjmed/hcaf246
- Citations
- 1
- Primary Topic
- Cell Adhesion Molecules Research
- Type
- article
- Field-Weighted Citation Impact
- 1.62
Funders
- Oklahoma Medical Research Foundation
- Deutsche Forschungsgemeinschaft
- National Institutes of Health
- Office of Research Infrastructure Programs, National Institutes of Health