Recurring genetic variant in LEADS
The PSEN1 variant p.I227L was identified in three LEADS CI participants and warrants further investigation as a potentially pathogenic variant.
Authors
- María C. Carrillo (ORCID: https://orcid.org/0000-0003-3057-2387)
- Liana G. Apostolova (ORCID: https://orcid.org/0000-0003-1823-2451)
- Jeffrey L. Dage (ORCID: https://orcid.org/0000-0002-2192-1699)
- Tatiana Foroud
- Gil Dan Rabinovici (ORCID: https://orcid.org/0000-0002-3626-4265)
- Dustin B. Hammers (ORCID: https://orcid.org/0000-0002-1644-2618)
- Malia Rumbaugh
- Kelly Nudelman (ORCID: https://orcid.org/0000-0003-4040-1717)
- Ani Eloyan (ORCID: https://orcid.org/0000-0002-8110-7680)
- Bradford Clark Dickerson (ORCID: https://orcid.org/0000-0002-5958-3445)
Institutions
- Alzheimer's Association (US)
- Harvard University (US)
- University of California, San Francisco (US)
- Brown University (US)
- Massachusetts General Hospital (US)
- University Memory and Aging Center (US)
- Alzheimer’s Disease Neuroimaging Initiative (US)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.092647
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00