16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
- DOI
- 10.1136/jmedgenet-2018-105389
- Published
- 2020 May
- Container
- Journal of medical genetics
- 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:10.1136/jmedgenet-2018-105389,
title = {16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.},
author = {Allach El Khattabi L and Heide S and Caberg JH and Andrieux J and Doco Fenzy M and Vincent-Delorme C and Callier P and Chantot-Bastaraud S and Afenjar A and Boute-Benejean O and Cordier MP and Faivre L and Francannet C and Gerard M and Goldenberg A and Masurel-Paulet A and Mosca-Boidron AL and Marle N and Moncla A and Le Meur N and Mathieu-Dramard M and Plessis G and Lesca G and Rossi M and Edery P and Delahaye-Duriez A and De Pontual L and Tabet AC and Lebbar A and Suiro L and Ioos C and Natiq A and Chafai Elalaoui S and Missirian C and Receveur A and François-Fiquet C and Garnier P and Yardin C and Laroche C and Vago P and Sanlaville D and Dupont JM and Benzacken B and Pipiras E},
year = {2020},
journal = {Journal of medical genetics},
doi = {10.1136/jmedgenet-2018-105389},
url = {https://doi.org/10.1136/jmedgenet-2018-105389}
}RIS
TY - JOUR TI - 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations. AU - Allach El Khattabi L AU - Heide S AU - Caberg JH AU - Andrieux J AU - Doco Fenzy M AU - Vincent-Delorme C AU - Callier P AU - Chantot-Bastaraud S AU - Afenjar A AU - Boute-Benejean O AU - Cordier MP AU - Faivre L AU - Francannet C AU - Gerard M AU - Goldenberg A AU - Masurel-Paulet A AU - Mosca-Boidron AL AU - Marle N AU - Moncla A AU - Le Meur N AU - Mathieu-Dramard M AU - Plessis G AU - Lesca G AU - Rossi M AU - Edery P AU - Delahaye-Duriez A AU - De Pontual L AU - Tabet AC AU - Lebbar A AU - Suiro L AU - Ioos C AU - Natiq A AU - Chafai Elalaoui S AU - Missirian C AU - Receveur A AU - François-Fiquet C AU - Garnier P AU - Yardin C AU - Laroche C AU - Vago P AU - Sanlaville D AU - Dupont JM AU - Benzacken B AU - Pipiras E PY - 2020 JO - Journal of medical genetics DO - 10.1136/jmedgenet-2018-105389 UR - https://doi.org/10.1136/jmedgenet-2018-105389 ER -
APA
L, A. E. K., S, H., JH, C., J, A., M, D. F., C, V., P, C., S, C., A, A., O, B., MP, C., L, F., C, F., M, G., A, G., A, M., AL, M., N, M., A, M., N, L. M., M, M., G, P., G, L., M, R., P, E., A, D., L, D. P., AC, T., A, L., L, S., C, I., A, N., S, C. E., C, M., A, R., C, F., P, G., C, Y., C, L., P, V., D, S., JM, D., B, B., & E, P. (2020). 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.. Journal of medical genetics. https://doi.org/10.1136/jmedgenet-2018-105389
Source records
- pubmed · retrieved 2026-09-26T20:25:54.154Z