Whole-genome and long-read sequencing identify a novel mechanism in RFC1 resulting in CANVAS syndrome

Authors

Katherine Abell King, Washington University School of Medicine in St. Louis
Daniel J. Wegner, Washington University School of Medicine in St. Louis
Robert C. Bucelli, Washington University School of Medicine in St. Louis
Jessica Shapiro, Washington University School of Medicine in St. Louis
Alexander J. Paul, Washington University School of Medicine in St. Louis
Patricia I. Dickson, Washington University School of Medicine in St. Louis
Jennifer A. Wambach, Washington University School of Medicine in St. Louis
Undiagnosed Disease Network

Journal

Neurology: Genetics

Publication Date

12-1-2022

Volume

8

Issue

6

First Page

e200036

Document Type

Open Access Publication

DOI

10.1212/NXG.0000000000200036

Rights and Permissions

King KA, Wegner DJ, Bucelli RC, Shapiro J, Paul AJ, Dickson PI, Wambach JA; Undiagnosed Disease Network (UDN). Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome. Neurol Genet. 2022 Nov 1;8(6):e200036. doi: 10.1212/NXG.0000000000200036. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal

Recommended Citation

King, Katherine Abell; Wegner, Daniel J.; Bucelli, Robert C.; Shapiro, Jessica; Paul, Alexander J.; Dickson, Patricia I.; Wambach, Jennifer A.; and Undiagnosed Disease Network, "Whole-genome and long-read sequencing identify a novel mechanism in RFC1 resulting in CANVAS syndrome." Neurology: Genetics. 8, 6. e200036 (2022).
https://digitalcommons.wustl.edu/oa_4/915

Additional Links

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