Publication:

Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region

Date

Date

Date
2025
Journal Article
Published version
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Wang, S., Du, J., Shen, Q., Haas, C., & Neubauer, J. (2025). Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region. International Journal of Legal Medicine, 139(1), 15–25. https://doi.org/10.1007/s00414-024-03329-6

Abstract

Abstract

Abstract

Sudden unexplained death (SUD) can affect apparently healthy adolescents and young adults with no prior clinical symptoms and no clear diagnostic findings at autopsy. Although primary cardiac arrhythmias have been shown to be the direct cause of death in the majority of SUD cases, the genetic predisposition contributing to SUD remains incompletely understood. Currently, molecular autopsy is considered to be an effective diagnostic tool in the multidisciplinary management of SUD, but the analysis focuses mainly on the coding region and

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3 since deposited on 2024-10-02
Acq. date: 2025-11-12

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1 since deposited on 2024-10-02
Acq. date: 2025-11-12

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Creators (Authors)

Journal/Series Title

Journal/Series Title

Journal/Series Title
International Journal of Legal Medicine

Volume

Volume

Volume
139

Number

Number

Number
1

Page range/Item number

Page range/Item number

Page range/Item number
15

Page end

Page end

Page end
25

Item Type

Item Type

Item Type
Journal Article

In collections

Publications of Institute of Legal Medicine

Dewey Decimal Classifikation

Dewey Decimal Classifikation

Dewey Decimal Classifikation
340 Law
610 Medicine & health

Keywords

Keywords: Dual-luciferase reporter assay, Molecular autopsy, Sudden unexplained death, Untranslated regions, Whole-exome sequencing.

Language

Language

Language
English

Publication date

Publication date

Publication date
2025-01-01

Date available

Date available

Date available
2024-10-02

Publisher

Publisher

Publisher
Springer

ISSN or e-ISSN

ISSN or e-ISSN

ISSN or e-ISSN
0937-9827

Additional Information

Additional Information

Additional Information
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s00414-024-03329-6. Funding: Open access funding provided by University of Zurich Data availability All data will be provided upon request to the first or corresponding authors. Declarations: Ethical approval Ethical approval for this study was provided by the local ethics committee in Zurich, Switzerland (KEK-ZH-Nr. 2013-0086), and the study was conducted in full conformance with Swiss laws and regulations. The requirements of the local ethics committee included written informed consent of family members. If no family members were available, SUD cases had been irreversibly anonymized. Conflict of interest The authors declare no conflict of interest. Open Access: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons. org/licenses/by/4.0/.

OA Status

OA Status

OA Status
Hybrid

Free Access at

Free Access at

Free Access at
DOI

Publisher DOI

https://doi.org/10.1007/s00414-024-03329-6

PubMed ID

PubMed ID

PubMed ID
39266800

Metrics

Downloads

3 since deposited on 2024-10-02
Acq. date: 2025-11-12

Views

1 since deposited on 2024-10-02
Acq. date: 2025-11-12

Citations

Citations

Citation copied

Wang, S., Du, J., Shen, Q., Haas, C., & Neubauer, J. (2025). Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region. International Journal of Legal Medicine, 139(1), 15–25. https://doi.org/10.1007/s00414-024-03329-6

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Permanent URL

https://doi.org/10.5167/uzh-262422

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Haas2024Interpretation.pdfview fileDownload PDF|1Download1.48 MB
Content:Published Version
Language:eng
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CC BY 4.0
Haas2024Interpretation.pdfview fileDownload PDF|1Download1.48 MB
Content:Published Version
Language:eng
Licence:
CC BY 4.0

Files

Files

Files
Files available to download:1
Haas2024Interpretation.pdfview fileDownload PDF|1Download1.48 MB
Content:Published Version
Language:eng
Licence:
CC BY 4.0
Haas2024Interpretation.pdfview fileDownload PDF|1Download1.48 MB
Content:Published Version
Language:eng
Licence:
CC BY 4.0
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