Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion
Taken together, our study demonstrates robust ability to quantify methylation of the expanded C9orf72 repeat, capturing differences between individuals harboring this expansion and revealing clinical associations.
Authors
- Evan Udine (ORCID: https://orcid.org/0000-0003-2509-0420)
- Siva Arumugam Saravanaperumal
- Eric D. Wieben (ORCID: https://orcid.org/0000-0002-8708-0968)
- Rosa Rademakers (ORCID: https://orcid.org/0000-0002-4049-0863)
- Jazmyne L. Jackson (ORCID: https://orcid.org/0009-0000-7874-9423)
- Björn Oskarsson (ORCID: https://orcid.org/0000-0002-1725-9866)
- Leonard Petrucelli (ORCID: https://orcid.org/0000-0003-2959-129X)
- Mark Ebbert (ORCID: https://orcid.org/0000-0001-9158-4440)
- Matthew Baker (ORCID: https://orcid.org/0000-0002-0002-1907)
- Marka van Blitterswijk (ORCID: https://orcid.org/0000-0002-3054-7053)
- Jaimin Shah (ORCID: https://orcid.org/0000-0003-4379-0666)
- Mariely DeJesus‐Hernandez
- NiCole A. Finch
Institutions
- University of Kentucky (US)
- University of Antwerp (BE)
- Jacksonville College (US)
- WinnMed (US)
- Mayo Clinic in Arizona (US)
- VIB-UAntwerp Center for Molecular Neurology (BE)
- Mayo Clinic in Florida (US)
- Temple University (US)
Publication Details
- Journal
- Molecular Neurodegeneration
- Published
- 2024-12-21
- DOI
- https://doi.org/10.1186/s13024-024-00790-0
- Citations
- 7
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 2.58
Funders
- ALS Association
- Muscular Dystrophy Association
- National Institute of Neurological Disorders and Stroke
- Robert Packard Center for ALS Research, Johns Hopkins University