ArticleGenome research2016
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Molecular autopsy in unexplained sudden death: a systematic review and meta-analysis of ACMG-corrected diagnostic yield, genomic architecture, and family translation.International journal of legal medicine · 2026Pooled it
- Review
- Massively Parallel Sequencing of 43 Arrhythmia Genes in a Selected SUDI Cohort from Cape Town.Journal of pediatric genetics · 2022Article
- Monogenic basis of young-onset cryptogenic stroke: a multicenter study.Annals of translational medicine · 2022Article
- HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death.BMC medical genomics · 2021Article
- Workflow for the Implementation of Precision Genomics in Healthcare.Frontiers in genetics · 2020Article
- Neonatal circumcision and prematurity are associated with sudden infant death syndrome (SIDS).Journal of clinical and translational research · 2019Article
- A Systematic Review of Molecular Autopsy Studies in Sudden Infant Death Cases.Journal of pediatric genetics · 2018Review
- SCN1A variants associated with sudden infant death syndrome.Epilepsia · 2018Article
- Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.Journal of the American College of Cardiology · 2017Article
- Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?Frontiers in cardiovascular medicine · 2017Article
- The ethics of conducting molecular autopsies in cases of sudden death in the young.Genome research · 2016Article
- A "Wear and Tear" Hypothesis to Explain Sudden Infant Death Syndrome.Frontiers in neurology · 2016Article
- Sudden cardiac death and the role of postmortem genetic testing in unexplained cases.Indian pacing and electrophysiology journalReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Each year in the United States, thousands of cases of sudden and unexpected deaths of infants, children, and young adults are assigned an undetermined cause of death after postmortem investigation and autopsy. Heritable genetic variants have been suggested as the cause of up to a third of sudden death (SD) cases. Elucidation of the genetic variants involved in SD cases is important to not only help establish cause and manner of death of these individuals, but to also aid in determining whether familial genetic testing should be considered. Previously, these types of postmortem screenings have not been a feasible option for most county medical examiners' and coroners' offices. We sequenced full exons of 64 genes associated with SD in the largest known cohort (351) of infant and young SD decedents using massively parallel sequencing at <$600 per sample. Genetic variants were assessed through literature review and clinical evaluation by a multidisciplinary consortium of experts. Thirteen individuals (3.7%), eight infants (2.8% of those <1 yr of age) and five children/young adults (7.0% of those >1 yr of age), were found to have a reportable genetic variant contributing to SD. These percentages represent an estimate lower than those previously reported. Overall yields and results likely vary between studies due to differences in evaluation techniques and reporting. Additionally, we recommend ongoing assessment of data, including nonreported novel variants, as technology and literature continually advance. This study demonstrates a strategy to implement molecular autopsies in medicolegal investigations of young SD decedents.
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Registered trials
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