Work

The genetic architecture of pentanucleotide repeat variation and disease association

Year: 2026

Type: article

Study design: Observational Study

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2026.09.017

Authors: Isaac R.L. Xu, David Pellerin, Liedewei Van De Vondel, Ben Weisburd, Egor Dolzhenko, Matt C. Danzi, Stephan Zuchner

Institutions: University of Miami, Montreal Neurological Institute and Hospital, Dr. John T. Macdonald Foundation, McGill University, Broad Institute, Massachusetts General Hospital, Pacific Biosciences (United States)

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7222496565

FWCI:

Cites: 42

Cited by:

Related to: 10