Should Exome Sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta.
- DOI
- 10.1159/000551269
- Published
- 2026 Mar 18
- Container
- Fetal diagnosis and therapy
- Publisher
- Not recorded
- Open access
- unknown
Credibility signals
limited evidence Score 43/100 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.
- 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.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Cite this work
BibTeX
@article{allodium:10.1159/000551269,
title = {Should Exome Sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta.},
author = {Betin G and Devia M and Annicchiarico W and Iannello P and Moreno M and Maestre N and Miranda J},
year = {2026},
journal = {Fetal diagnosis and therapy},
doi = {10.1159/000551269},
url = {https://doi.org/10.1159/000551269}
}RIS
TY - JOUR TI - Should Exome Sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta. AU - Betin G AU - Devia M AU - Annicchiarico W AU - Iannello P AU - Moreno M AU - Maestre N AU - Miranda J PY - 2026 JO - Fetal diagnosis and therapy DO - 10.1159/000551269 UR - https://doi.org/10.1159/000551269 ER -
APA
G, B., M, D., W, A., P, I., M, M., N, M., & J, M. (2026). Should Exome Sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta.. Fetal diagnosis and therapy. https://doi.org/10.1159/000551269
Source records
- pubmed · retrieved 2026-09-26T10:50:30.897Z