Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier.
- DOI
- 10.1016/j.xhgg.2026.100632
- Published
- 2026 Jul 9
- Container
- HGG advances
- Publisher
- Not recorded
- Open access
- yes
Credibility signals
limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- 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.
- supportingOpen access status: Normalized open-access status: open.
- 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.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1016/j.xhgg.2026.100632,
title = {Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier.},
author = {Nakamura K and Okazaki A and Motooka D and Matsumoto N and Hasegawa Y and Fukuda S and Yabe M and Sugiura A and Yatsuka Y and Fushimi T and Onuki T and Aida Y and Ohtake A and Murayama K and Okazaki Y},
year = {2026},
journal = {HGG advances},
doi = {10.1016/j.xhgg.2026.100632},
url = {https://doi.org/10.1016/j.xhgg.2026.100632}
}RIS
TY - JOUR TI - Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier. AU - Nakamura K AU - Okazaki A AU - Motooka D AU - Matsumoto N AU - Hasegawa Y AU - Fukuda S AU - Yabe M AU - Sugiura A AU - Yatsuka Y AU - Fushimi T AU - Onuki T AU - Aida Y AU - Ohtake A AU - Murayama K AU - Okazaki Y PY - 2026 JO - HGG advances DO - 10.1016/j.xhgg.2026.100632 UR - https://doi.org/10.1016/j.xhgg.2026.100632 ER -
APA
K, N., A, O., D, M., N, M., Y, H., S, F., M, Y., A, S., Y, Y., T, F., T, O., Y, A., A, O., K, M., & Y, O. (2026). Nanopore-based haplotype-resolved X chromosome inactivation for severity assessment in X-linked disorders: An AIFM1 study with a mosaic PDHA1 carrier.. HGG advances. https://doi.org/10.1016/j.xhgg.2026.100632
Source records
- pubmed · retrieved 2026-09-26T07:11:42.868Z