Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
- DOI
- 10.1007/s00439-019-02099-1
- Published
- 2020 Feb
- Container
- Human genetics
- 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:10.1007/s00439-019-02099-1,
title = {Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.},
author = {Mukhopadhyay N and Bishop M and Mortillo M and Chopra P and Hetmanski JB and Taub MA and Moreno LM and Valencia-Ramirez LC and Restrepo C and Wehby GL and Hecht JT and Deleyiannis F and Butali A and Weinberg SM and Beaty TH and Murray JC and Leslie EJ and Feingold E and Marazita ML},
year = {2020},
journal = {Human genetics},
doi = {10.1007/s00439-019-02099-1},
url = {https://doi.org/10.1007/s00439-019-02099-1}
}RIS
TY - JOUR TI - Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21. AU - Mukhopadhyay N AU - Bishop M AU - Mortillo M AU - Chopra P AU - Hetmanski JB AU - Taub MA AU - Moreno LM AU - Valencia-Ramirez LC AU - Restrepo C AU - Wehby GL AU - Hecht JT AU - Deleyiannis F AU - Butali A AU - Weinberg SM AU - Beaty TH AU - Murray JC AU - Leslie EJ AU - Feingold E AU - Marazita ML PY - 2020 JO - Human genetics DO - 10.1007/s00439-019-02099-1 UR - https://doi.org/10.1007/s00439-019-02099-1 ER -
APA
N, M., M, B., M, M., P, C., JB, H., MA, T., LM, M., LC, V., C, R., GL, W., JT, H., F, D., A, B., SM, W., TH, B., JC, M., EJ, L., E, F., & ML, M. (2020). Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.. Human genetics. https://doi.org/10.1007/s00439-019-02099-1
Source records
- pubmed · retrieved 2026-09-25T06:33:48.597Z
- europe-pmc · retrieved 2026-09-25T06:33:48.575Z