Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay
- DOI
- 10.1016/j.ymgme.2026.110237
- Published
- 2026-09
- Container
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Open access
- unknown
Credibility signals
uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- supportingDOI registered: A matching record was returned by Crossref.
- supportingDOI resolves: A matching record was returned by Crossref.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- supportingMetadata completeness: All 6 scored descriptive metadata groups are present.
Cite this work
BibTeX
@article{allodium:10.1016/j.ymgme.2026.110237,
title = {Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay},
author = {Shelly Goomber and Erin Huggins and Catherine W. Rehder and Gregory E. Crawford and Seung-Hye Jung and Jessica Doxey and Apoorva K. Iyengar and Erica B. Nading and Priya S. Kishnani and Deeksha S. Bali},
year = {2026},
journal = {Molecular Genetics and Metabolism},
doi = {10.1016/j.ymgme.2026.110237},
url = {https://doi.org/10.1016/j.ymgme.2026.110237}
}RIS
TY - JOUR TI - Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay AU - Shelly Goomber AU - Erin Huggins AU - Catherine W. Rehder AU - Gregory E. Crawford AU - Seung-Hye Jung AU - Jessica Doxey AU - Apoorva K. Iyengar AU - Erica B. Nading AU - Priya S. Kishnani AU - Deeksha S. Bali PY - 2026 JO - Molecular Genetics and Metabolism DO - 10.1016/j.ymgme.2026.110237 UR - https://doi.org/10.1016/j.ymgme.2026.110237 ER -
APA
Goomber, S., Huggins, E., Rehder, C. W., Crawford, G. E., Jung, S., Doxey, J., Iyengar, A. K., Nading, E. B., Kishnani, P. S., & Bali, D. S. (2026). Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay. Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2026.110237
Source records
- crossref · retrieved 2026-09-27T01:26:54.773Z