{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T15:11:19Z","timestamp":1777389079577,"version":"3.51.4"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T00:00:00Z","timestamp":1717718400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101971"],"award-info":[{"award-number":["82101971"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"National Postdoctoral Science Foundation of China","doi-asserted-by":"crossref","award":["2021M700815"],"award-info":[{"award-number":["2021M700815"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"crossref","award":["320030_149456"],"award-info":[{"award-number":["320030_149456"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Emma Louise Kessler Foundation","award":["Emma Louise Kessler Foundation"],"award-info":[{"award-number":["Emma Louise Kessler Foundation"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Legal Med"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cardiac arrhythmia is currently considered to be the direct cause of death in a majority of sudden unexplained death (SUD) cases, yet the genetic predisposition and corresponding endophenotypes contributing to SUD remain incompletely understood. In this study, we aimed to investigate the involvement of Coenzyme Q (CoQ) deficiency in SUD. First, we re-analyzed the exome sequencing data of 45 SUD and 151 sudden infant death syndrome (SIDS) cases from our previous studies, focusing on previously overlooked genetic variants in 44 human CoQ deficiency-related genes. A considerable proportion of the SUD (38%) and SIDS (37%) cases were found to harbor rare variants with likely functional effects. Subsequent burden testing, including all rare exonic and untranslated region variants identified in our case cohorts, further confirmed the existence of significant genetic burden. Based on the genetic findings, the influence of CoQ deficiency on electrophysiological and morphological properties was further examined in a mouse model. A significantly prolonged PR interval and an increased occurrence of atrioventricular block were observed in the 4-nitrobenzoate induced CoQ deficiency mouse group, suggesting that CoQ deficiency may predispose individuals to sudden death through an increased risk of cardiac arrhythmia. Overall, our findings suggest that CoQ deficiency-related genes should also be considered in the molecular autopsy of SUD.<\/jats:p>","DOI":"10.1007\/s00414-024-03265-5","type":"journal-article","created":{"date-parts":[[2024,6,7]],"date-time":"2024-06-07T02:01:27Z","timestamp":1717725687000},"page":"2239-2248","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Coenzyme Q deficiency may predispose to sudden unexplained death via an increased risk of cardiac arrhythmia"],"prefix":"10.1007","volume":"138","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6082-2028","authenticated-orcid":false,"given":"Shouyu","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8122-1427","authenticated-orcid":false,"given":"Cordula","family":"Haas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhimin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianghua","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zijie","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guanghui","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1933-134X","authenticated-orcid":false,"given":"Liliang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7580-2062","authenticated-orcid":false,"given":"Ruiyang","family":"Tao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4441-3048","authenticated-orcid":false,"given":"Yiwen","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9472-7803","authenticated-orcid":false,"given":"Jacqueline","family":"Neubauer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,7]]},"reference":[{"key":"3265_CR1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.ahj.2009.10.019","volume":"159","author":"AS Adabag","year":"2010","unstructured":"Adabag AS, Peterson G, Apple FS et al (2010) Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation. Am Heart J 159:33\u201339","journal-title":"Am Heart J"},{"key":"3265_CR2","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1161\/CIRCRESAHA.116.304521","volume":"116","author":"M Hayashi","year":"2015","unstructured":"Hayashi M, Shimizu W, Albert CM (2015) The spectrum of epidemiology underlying sudden cardiac death. Circ Res 116:1887\u20131906","journal-title":"Circ Res"},{"key":"3265_CR3","doi-asserted-by":"crossref","first-page":"2441","DOI":"10.1056\/NEJMoa1510687","volume":"374","author":"RD Bagnall","year":"2016","unstructured":"Bagnall RD, Weintraub RG, Ingles J et al (2016) A prospective study of Sudden Cardiac Death among children and young adults. N Engl J Med 374:2441\u20132452","journal-title":"N Engl J Med"},{"key":"3265_CR4","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.hrthm.2022.08.036","volume":"20","author":"TH Lynge","year":"2023","unstructured":"Lynge TH, Nielsen JL, Risgaard B et al (2023) Causes of sudden cardiac death according to age and sex in persons aged 1\u201349 years. Heart Rhythm 20:61\u201368","journal-title":"Heart Rhythm"},{"key":"3265_CR5","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s12872-020-01361-z","volume":"20","author":"PD Yazdanfard","year":"2020","unstructured":"Yazdanfard PD, Christensen AH, Tfelt-Hansen J et al (2020) Non-diagnostic autopsy findings in sudden unexplained death victims. BMC Cardiovasc Disord 20:58","journal-title":"BMC Cardiovasc Disord"},{"key":"3265_CR6","doi-asserted-by":"crossref","first-page":"111240","DOI":"10.1016\/j.forsciint.2022.111240","volume":"334","author":"J Neubauer","year":"2022","unstructured":"Neubauer J, Kissel CK, Bolliger SA et al (2022) Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland. Forensic Sci Int 334:111240","journal-title":"Forensic Sci Int"},{"key":"3265_CR7","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1542\/peds.114.1.234","volume":"114","author":"HF Krous","year":"2004","unstructured":"Krous HF, Beckwith JB, Byard RW et al (2004) Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and Diagnostic Approach. Pediatrics 114:234\u2013238","journal-title":"Pediatrics"},{"key":"3265_CR8","doi-asserted-by":"crossref","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","volume":"43","author":"K Zeppenfeld","year":"2022","unstructured":"Zeppenfeld K, Tfelt-Hansen J, de Riva M et al (2022) 2022 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: developed by the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J 43:3997\u20134126","journal-title":"Eur Heart J"},{"key":"3265_CR9","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.trsl.2015.06.007","volume":"168","author":"CJ Miles","year":"2016","unstructured":"Miles CJ, Behr ER (2016) The role of genetic testing in unexplained sudden death. Transl Res 168:59\u201373","journal-title":"Transl Res"},{"key":"3265_CR10","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.hrthm.2011.05.020","volume":"8","author":"MJ Ackerman","year":"2011","unstructured":"Ackerman MJ, Priori SG, Willems S et al (2011) HRS\/EHRA Expert Consensus Statement on the state of genetic testing for the Channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 8:1308\u20131339","journal-title":"Heart Rhythm"},{"key":"3265_CR11","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.hrthm.2020.10.010","volume":"18","author":"MK Stiles","year":"2021","unstructured":"Stiles MK, Wilde AAM, Abrams DJ et al (2021) 2020 APHRS\/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm 18:e1\u2013e50","journal-title":"Heart Rhythm"},{"key":"3265_CR12","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.1016\/j.bbabio.2016.03.036","volume":"1857","author":"MJ Acosta","year":"2016","unstructured":"Acosta MJ, Vazquez Fonseca L, Desbats MA et al (2016) Coenzyme Q biosynthesis in health and disease. Biochim Biophys Acta 1857:1079\u20131085","journal-title":"Biochim Biophys Acta"},{"key":"3265_CR13","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.bbamem.2003.11.012","volume":"1660","author":"M Turunen","year":"2004","unstructured":"Turunen M, Olsson J, Dallner G (2004) Metabolism and function of coenzyme Q. Biochim Biophys Acta 1660:171\u2013199","journal-title":"Biochim Biophys Acta"},{"key":"3265_CR14","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1042\/EBC20170107","volume":"62","author":"M Alc\u00e1zar-Fabra","year":"2018","unstructured":"Alc\u00e1zar-Fabra M, Trevisson E, Brea-Calvo G (2018) Clinical syndromes associated with Coenzyme Q10 deficiency. Essays Biochem 62:377\u2013398","journal-title":"Essays Biochem"},{"key":"3265_CR15","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3390\/jcm6030027","volume":"6","author":"JC Rodr\u00edguez-Aguilera","year":"2017","unstructured":"Rodr\u00edguez-Aguilera JC, Cort\u00e9s AB, Fern\u00e1ndez-Ayala DJM et al (2017) Biochemical Assessment of Coenzyme Q(10) Deficiency. J Clin Med 6:27","journal-title":"J Clin Med"},{"key":"3265_CR16","doi-asserted-by":"crossref","first-page":"164","DOI":"10.2174\/1573403X14666180416115428","volume":"14","author":"IV Zozina","year":"2018","unstructured":"Zozina IV, Covantev S, Goroshko AO et al (2018) Coenzyme Q10 in Cardiovascular and metabolic diseases: current state of the Problem. Curr Cardiol Rev 14:164\u2013174","journal-title":"Curr Cardiol Rev"},{"key":"3265_CR17","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1038\/ejhg.2016.118","volume":"24","author":"SL Christiansen","year":"2016","unstructured":"Christiansen SL, Hertz CL, Ferrero-Miliani L et al (2016) Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting. Eur J Hum Genet 24:1797\u20131802","journal-title":"Eur J Hum Genet"},{"key":"3265_CR18","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1038\/gim.2017.15","volume":"19","author":"RD Bagnall","year":"2017","unstructured":"Bagnall RD, Ingles J, Yeates L et al (2017) Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death. Genet Med 19:1127\u20131133","journal-title":"Genet Med"},{"key":"3265_CR19","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13073-024-01284-w","volume":"16","author":"MJ Puckelwartz","year":"2024","unstructured":"Puckelwartz MJ, Pesce LL, Hernandez EJ et al (2024) The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome Med 16:13","journal-title":"Genome Med"},{"key":"3265_CR20","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1007\/s00414-021-02580-5","volume":"135","author":"J Neubauer","year":"2021","unstructured":"Neubauer J, Wang S, Russo G et al (2021) Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases. Int J Legal Med 135:1341\u20131349","journal-title":"Int J Legal Med"},{"key":"3265_CR21","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1038\/ejhg.2016.199","volume":"25","author":"J Neubauer","year":"2017","unstructured":"Neubauer J, Lecca MR, Russo G et al (2017) Post-mortem whole-exome analysis in a large sudden infant death syndrome cohort with a focus on cardiovascular and metabolic genetic diseases. Eur J Hum Genet 25:404\u2013409","journal-title":"Eur J Hum Genet"},{"key":"3265_CR22","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1080\/14737159.2018.1478290","volume":"18","author":"D Yubero","year":"2018","unstructured":"Yubero D, Montero R, Santos-Oca\u00f1a C et al (2018) Molecular diagnosis of coenzyme Q10 deficiency: an update. Expert Rev Mol Diagn 18:491\u2013498","journal-title":"Expert Rev Mol Diagn"},{"key":"3265_CR23","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G et al (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581:434\u2013443","journal-title":"Nature"},{"key":"3265_CR24","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1038\/s41467-019-12438-5","volume":"11","author":"Q Wang","year":"2020","unstructured":"Wang Q, Pierce-Hoffman E, Cummings BB et al (2020) Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes. Nat Commun 11:2539","journal-title":"Nat Commun"},{"key":"3265_CR25","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"3265_CR26","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","volume":"35","author":"C Kopanos","year":"2019","unstructured":"Kopanos C, Tsiolkas V, Kouris A et al (2019) VarSome: the human genomic variant search engine. Bioinformatics 35:1978\u20131980","journal-title":"Bioinformatics"},{"key":"3265_CR27","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/j.ajhg.2018.08.016","volume":"103","author":"MH Guo","year":"2018","unstructured":"Guo MH, Plummer L, Chan YM et al (2018) Burden Testing of Rare variants identified through Exome sequencing via publicly available Control Data. Am J Hum Genet 103:522\u2013534","journal-title":"Am J Hum Genet"},{"key":"3265_CR28","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1007\/s00414-023-03139-2","volume":"138","author":"D Qu","year":"2023","unstructured":"Qu D, Sch\u00fcrmann P, Roth\u00e4mel T et al (2023) Revisiting the association of sudden infant death syndrome (SIDS) with polymorphisms of NHE3 and IL13. Int J Legal Med 138:743\u2013749","journal-title":"Int J Legal Med"},{"key":"3265_CR29","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/nchembio.372","volume":"6","author":"U Forsman","year":"2010","unstructured":"Forsman U, Sjoberg M, Turunen M et al (2010) 4-Nitrobenzoate inhibits coenzyme Q biosynthesis in mammalian cell cultures. Nat Chem Biol 6:515\u2013517","journal-title":"Nat Chem Biol"},{"key":"3265_CR30","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1016\/j.hrthm.2009.04.001","volume":"6","author":"S Lee","year":"2009","unstructured":"Lee S, Wellens HJ, Josephson ME (2009) Paroxysmal atrioventricular block. Heart Rhythm 6:1229\u20131234","journal-title":"Heart Rhythm"},{"key":"3265_CR31","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1136\/heartjnl-2012-303220","volume":"99","author":"P Alboni","year":"2013","unstructured":"Alboni P, Holz A, Brignole M (2013) Vagally mediated atrioventricular block: pathophysiology and diagnosis. Heart 99:904\u2013908","journal-title":"Heart"},{"key":"3265_CR32","doi-asserted-by":"crossref","first-page":"e210","DOI":"10.1111\/j.1540-8159.2010.03010.x","volume":"35","author":"F Rotondi","year":"2012","unstructured":"Rotondi F, Marino L, Lanzillo T et al (2012) Prolonged ventricular pauses in an Asymptomatic Athlete with Apparent Mobitz Type II second-degree atrioventricular block. Pacing Clin Electrophysiol 35:e210\u2013e213","journal-title":"Pacing Clin Electrophysiol"},{"key":"3265_CR33","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1016\/j.hrthm.2020.12.035","volume":"18","author":"A Ramireddy","year":"2021","unstructured":"Ramireddy A, Chugh HS, Reinier K et al (2021) Sudden cardiac death during nighttime hours. Heart Rhythm 18:778\u2013784","journal-title":"Heart Rhythm"},{"key":"3265_CR34","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/j.jchf.2014.06.008","volume":"2","author":"SA Mortensen","year":"2014","unstructured":"Mortensen SA, Rosenfeldt F, Kumar A et al (2014) The Effect of Coenzyme Q10 on Morbidity and Mortality in Chronic Heart failure: results from Q-SYMBIO: a Randomized double-blind trial. JACC Heart Fail 2:641\u2013649","journal-title":"JACC Heart Fail"},{"key":"3265_CR35","doi-asserted-by":"crossref","first-page":"811833","DOI":"10.3389\/fgene.2021.811833","volume":"12","author":"N Wang","year":"2021","unstructured":"Wang N, Zheng Y, Zhang L et al (2021) A family segregating Lethal Primary Coenzyme Q10 Deficiency due to two novel COQ6 variants. Front Genet 12:811833","journal-title":"Front Genet"},{"key":"3265_CR36","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.3390\/antiox12081652","volume":"12","author":"D Mantle","year":"2023","unstructured":"Mantle D, Millichap L, Castro-Marrero J et al (2023) Primary Coenzyme Q10 Deficiency: an update. Antioxidants 12:1652","journal-title":"Antioxidants"},{"key":"3265_CR37","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1093\/hmg\/ddz295","volume":"29","author":"Y Zhu","year":"2020","unstructured":"Zhu Y, Shamblin I, Rodriguez E et al (2020) Progressive cardiac arrhythmias and ECG abnormalities in the Huntington\u2019s disease BACHD mouse model. Hum Mol Genet 29:369\u2013381","journal-title":"Hum Mol Genet"},{"key":"3265_CR38","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00414-021-02764-z","volume":"136","author":"S Scheiper-Welling","year":"2022","unstructured":"Scheiper-Welling S, Tabunscik M, Gross TE et al (2022) Variant interpretation in molecular autopsy: a useful dilemma. Int J Legal Med 136:475\u2013482","journal-title":"Int J Legal Med"},{"key":"3265_CR39","doi-asserted-by":"crossref","first-page":"3849","DOI":"10.1093\/eurheartj\/ehaa269","volume":"41","author":"R Walsh","year":"2020","unstructured":"Walsh R, Tadros R, Bezzina CR (2020) When genetic burden reaches threshold. Eur Heart J 41:3849\u20133855","journal-title":"Eur Heart J"},{"key":"3265_CR40","doi-asserted-by":"crossref","first-page":"e007837","DOI":"10.1161\/JAHA.117.007837","volume":"7","author":"J Zheng","year":"2018","unstructured":"Zheng J, Zheng D, Su T et al (2018) Sudden unexplained nocturnal death syndrome: the Hundred years\u2019 Enigma. J Am Heart Assoc 7:e007837","journal-title":"J Am Heart Assoc"},{"key":"3265_CR41","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/s41569-021-00555-y","volume":"18","author":"C Scrocco","year":"2021","unstructured":"Scrocco C, Bezzina CR, Ackerman MJ et al (2021) Genetics and genomics of arrhythmic risk: current and future strategies to prevent sudden cardiac death. Nat Rev Cardiol 18:774\u2013784","journal-title":"Nat Rev Cardiol"},{"key":"3265_CR42","doi-asserted-by":"crossref","first-page":"1579","DOI":"10.1007\/s00439-021-02370-4","volume":"141","author":"G Sarquella-Brugada","year":"2022","unstructured":"Sarquella-Brugada G, Fernandez-Falgueras A, Cesar S et al (2022) Clinical impact of rare variants associated with inherited channelopathies: a 5-year update. Hum Genet 141:1579\u20131589","journal-title":"Hum Genet"},{"key":"3265_CR43","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1007\/s00414-023-02951-0","volume":"137","author":"E Martinez-Barrios","year":"2023","unstructured":"Martinez-Barrios E, Sarquella-Brugada G, Perez-Serra A et al (2023) Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort. Int J Legal Med 137:345\u2013351","journal-title":"Int J Legal Med"}],"container-title":["International Journal of Legal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00414-024-03265-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00414-024-03265-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00414-024-03265-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,19]],"date-time":"2024-10-19T15:06:17Z","timestamp":1729350377000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00414-024-03265-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,7]]},"references-count":43,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["3265"],"URL":"https:\/\/doi.org\/10.1007\/s00414-024-03265-5","relation":{},"ISSN":["0937-9827","1437-1596"],"issn-type":[{"value":"0937-9827","type":"print"},{"value":"1437-1596","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,7]]},"assertion":[{"value":"14 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted in accordance with the Declaration of Helsinki. Ethical approval for human sample collection and exome analysis was provided by the local ethics committee in Zurich, Switzerland (KEK-ZH-Nr. 2013-0086). The animal study protocol was approved by the institutional board of animal ethics in Fudan University (20220228-016).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors declare no conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}