{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T13:57:35Z","timestamp":1785419855823,"version":"3.56.0"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T00:00:00Z","timestamp":1747785600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"DOI":"10.13039\/501100006390","name":"University of Lausanne","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100006390","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Diagn Ther"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1007\/s40291-025-00784-8","type":"journal-article","created":{"date-parts":[[2025,5,21]],"date-time":"2025-05-21T14:45:59Z","timestamp":1747838759000},"page":"539-552","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Making Sense of Missense: Benchmarking MutScore for Variant Interpretation in Inherited Cardiac Diseases"],"prefix":"10.1007","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7950-8090","authenticated-orcid":false,"given":"Alessandra Pia","family":"Porretta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Fressart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Surget","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Morgat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Bloch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Messali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Algalarrondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00e9raldine","family":"Vedrenne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Pruvot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Leenhardt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Denjoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrice","family":"Extramiana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,5,21]]},"reference":[{"key":"784_CR1","doi-asserted-by":"crossref","unstructured":"Richards S, Aziz N, Bale S, et al., ACMG Laboratory Quality Assurance Committee. 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. 2015;17(5):405-24.","DOI":"10.1038\/gim.2015.30"},{"key":"784_CR2","doi-asserted-by":"crossref","unstructured":"Boycott KM, Vanstone MR, Bulman DE et al. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat Rev Genet. 2013.","DOI":"10.1038\/nrg3555"},{"key":"784_CR3","first-page":"58","volume":"6","author":"PJ Schwartz","year":"2020","unstructured":"Schwartz PJ, Ackerman MJ, Antzelevitch C, et al. Inherited cardiac arrhythmias. Nat Rev. 2020;6:58.","journal-title":"Nat Rev"},{"issue":"7","key":"784_CR4","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1161\/CIRCULATIONAHA.118.035954","volume":"140","author":"M Cerrone","year":"2019","unstructured":"Cerrone M, Remme CA, Tadros R, Bezzina CR, Delmar M. Beyond the one gene-one disease paradigm: complex genetics and pleiotropy in inheritable cardiac disorders. Circulation. 2019;140(7):595\u2013610.","journal-title":"Circulation"},{"issue":"4","key":"784_CR5","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lange EM, Schleutker J, Carpten JD, Powell IJ, Cussenot O, Cancel-Tassin G, Giles GG, MacInnis RJ, Maier C, Hsieh CL, Wiklund F, Catalona WJ, Foulkes WD, Mandal D, Eeles RA, Kote-Jarai Z, Bustamante CD, Schaid DJ, Hastie T, Ostrander EA, Bailey-Wilson JE, Radivojac P, Thibodeau SN, Whittemore AS, Sieh W. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99(4):877\u201385.","journal-title":"Am J Hum Genet"},{"issue":"8","key":"784_CR6","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1136\/jmedgenet-2020-107003","volume":"58","author":"AC Gunning","year":"2021","unstructured":"Gunning AC, Fryer V, Fasham J, et al. Assessing performance of pathogenicity predictors using clinically relevant variant datasets. J Med Genet. 2021;58(8):547\u201355.","journal-title":"J Med Genet"},{"issue":"8","key":"784_CR7","doi-asserted-by":"publisher","first-page":"e11474","DOI":"10.1525\/msb.202211474","volume":"19","author":"BJ Livesey","year":"2023","unstructured":"Livesey BJ, Marsh JA. Updated benchmarking of variant effect\u00a0predictors\u00a0using deep mutational scanning. Mol Syst Biol. 2023;19(8):e11474. https:\/\/doi.org\/10.1525\/msb.202211474. (Epub 2023 Jun 13).","journal-title":"Mol Syst Biol"},{"issue":"8","key":"784_CR8","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1093\/europace\/euac030","volume":"24","author":"AAM Wilde","year":"2022","unstructured":"Wilde AAM, Semsarian C, M\u00e1rquez MF, et al. European Heart Rhythm Association (EHRA)\/Heart Rhythm Society(HRS)\/Asia Pacific Heart Rhythm Society (APHRS)\/Latin American HeartRhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace. 2022;24(8):1307\u201367.","journal-title":"Europace"},{"issue":"40","key":"784_CR9","doi-asserted-by":"publisher","first-page":"3997","DOI":"10.1093\/eurheartj\/ehac262","volume":"43","author":"K Zeppenfeld","year":"2022","unstructured":"Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, Charron P, Corrado D, Dagres N, de Chillou C, Eckardt L, Friede T, Haugaa KH, Hocini M, Lambiase PD, Marijon E, Merino JL, Peichl P, Priori SG, Reichlin T, Schulz-Menger J, Sticherling C, Tzeis S, Verstrael A, Volterrani M. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J. 2022;43(40):3997\u20134126.","journal-title":"Eur Heart J"},{"issue":"4","key":"784_CR10","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248\u20139.","journal-title":"Nat Methods"},{"issue":"3","key":"784_CR11","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310\u20135.","journal-title":"Nat Genet"},{"issue":"4","key":"784_CR12","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/j.ajhg.2016.08.016","volume":"99","author":"NM Ioannidis","year":"2016","unstructured":"Ioannidis NM, Rothstein JH, Pejaver V, et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99(4):877\u201385. https:\/\/doi.org\/10.1016\/j.ajhg.2016.08.016.","journal-title":"Am J Hum Genet"},{"issue":"6664","key":"784_CR13","doi-asserted-by":"publisher","first-page":"eadg7492","DOI":"10.1126\/science.adg7492","volume":"381","author":"J Cheng","year":"2023","unstructured":"Cheng J, Novati G, Pan J, et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science. 2023;381(6664):eadg7492.","journal-title":"Science"},{"issue":"2","key":"784_CR14","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1038\/s41431-020-00755-z","volume":"29","author":"D Baux","year":"2021","unstructured":"Baux D, Van Goethem C, Ardouin O, Guignard T, Bergougnoux A, Koenig M, Roux AF. MobiDetails: online DNA variants interpretation. Eur J Hum Genet. 2021;29(2):356\u201360.","journal-title":"Eur J Hum Genet"},{"issue":"3","key":"784_CR15","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1016\/j.ajhg.2022.01.006","volume":"109","author":"M Quinodoz","year":"2022","unstructured":"Quinodoz M, Peter VG, Cisarova K, et al. Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity. Am J Hum Genet. 2022;109(3):457\u201370.","journal-title":"Am J Hum Genet"},{"issue":"345","key":"784_CR16","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.e6717","volume":"24","author":"GM Schuetz","year":"2012","unstructured":"Schuetz GM, Schlattmann P, Dewey M. Use of 3x2 tables with an intention to diagnose approach to assess clinical performance of diagnostic tests: meta-analytical evaluation of coronary CT angiography studies. BMJ. 2012;24(345): e6717.","journal-title":"BMJ"},{"issue":"5","key":"784_CR17","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1016\/j.acvd.2023.04.003","volume":"116","author":"D Mannhart","year":"2023","unstructured":"Mannhart D, Lefebvre B, Gardella C, Henry C, Serban T, Knecht S, K\u00fchne M, Sticherling C, Badertscher P. Clinical validation of an artificial intelligence algorithm offering cross-platform detection of atrial fibrillation using smart device electrocardiograms. Arch Cardiovasc Dis. 2023;116(5):249\u201357.","journal-title":"Arch Cardiovasc Dis"},{"key":"784_CR18","doi-asserted-by":"crossref","unstructured":"Hanley JA, McNeil BJ. A method of comparing the areas under receiver operating characteristic curves derived from the same cases. Radiology. 1983;148(3):839\u201343.","DOI":"10.1148\/radiology.148.3.6878708"},{"key":"784_CR19","doi-asserted-by":"crossref","unstructured":"Hanley JA, McNeil BJ. The meaning and use of the area under a receiver operating characteristic (ROC) curve. Radiology 1982;143:29-36","DOI":"10.1148\/radiology.143.1.7063747"},{"issue":"9","key":"784_CR20","doi-asserted-by":"publisher","first-page":"966","DOI":"10.1001\/jamacardio.2022.2455","volume":"7","author":"LM Dellefave-Castillo","year":"2022","unstructured":"Dellefave-Castillo LM, Cirino AL, Callis TE, et al. Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing. JAMA Cardiol. 2022;7(9):966\u201374.","journal-title":"JAMA Cardiol."},{"key":"784_CR21","doi-asserted-by":"publisher","first-page":"1775","DOI":"10.1007\/s11845-024-03650-4","volume":"193","author":"J Murphy","year":"2024","unstructured":"Murphy J, Kirk CW, Lambert DM, et al. Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance. Ir J Med Sci. 2024;193:1775.","journal-title":"Ir J Med Sci"},{"issue":"6","key":"784_CR22","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1007\/s12471-019-1250-5","volume":"27","author":"FHM van Lint","year":"2019","unstructured":"van Lint FHM, Mook ORF, Alders M, Bikker H, LekanneDitDeprez RH, Christiaans I. Large\u00a0next-generation sequencing gene panels in genetic heart disease: yield of pathogenic\u00a0variants\u00a0and\u00a0variants\u00a0of unknown significance. Neth Heart J. 2019;27(6):304\u20139.","journal-title":"Neth Heart J."},{"issue":"3","key":"784_CR23","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1007\/s40291-021-00530-w","volume":"25","author":"A Janin","year":"2021","unstructured":"Janin A, Januel L, Cazeneuve C, et al. Molecular diagnosis of inherited cardiac diseases in the era of next-generation sequencing: a single center\u2019s experience over 5 years. Mol Diagn Ther. 2021;25(3):373\u201385.","journal-title":"Mol Diagn Ther"},{"issue":"6","key":"784_CR24","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1016\/j.hrthm.2024.01.008","volume":"21","author":"WJ Young","year":"2024","unstructured":"Young WJ, Maung S, Ahmet S, Kirkby C, Ives C, Schilling RJ, Lowe M, Lambiase PD. The frequency of gene variant reclassification and its impact on clinical management in the inherited arrhythmia clinic. Heart Rhythm. 2024;21(6):903\u201310. https:\/\/doi.org\/10.1016\/j.hrthm.2024.01.008. (Epub 2024 Jan 11).","journal-title":"Heart Rhythm"},{"issue":"8","key":"784_CR25","doi-asserted-by":"publisher","first-page":"1679","DOI":"10.1007\/s00246-019-02203-2","volume":"40","author":"JS Bennett","year":"2019","unstructured":"Bennett JS, Bernhardt M, McBride KL, Reshmi SC, Zmuda E, Kertesz NJ, Garg V, Fitzgerald-Butt S, Kamp AN. Reclassification of variants of uncertain significance in children with inherited arrhythmia syndromes is predicted by clinical factors. Pediatr Cardiol. 2019;40(8):1679\u201387.","journal-title":"Pediatr Cardiol"},{"issue":"10","key":"784_CR26","doi-asserted-by":"publisher","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, Arbelo E, Coll M, Perez-Serra A, Puigmul\u00e9 M, Iglesias A, Alcalde M, Vallverd\u00fa-Prats M, Fiol V, Ferrer-Costa C, Del Olmo B, Pic\u00f3 F, Lopez L, Garc\u00eda-Alvarez A, Jord\u00e0 P, de Llano CT, Toro R, Grassi S, Oliva A, Brugada J, Brugada R, Campuzano O. Clinical\u00a0impact\u00a0of rare variants associated with inherited channelopathies: a 5-year update. Hum Genet. 2022;141(10):1579\u201389.","journal-title":"Hum Genet"},{"key":"784_CR27","doi-asserted-by":"crossref","unstructured":"Werner-Lin A, Mccoyd JLM, Bernhardt BA. Actions and uncertainty: how prenatally diagnosed variants of uncertain significance become actionable. Hastings Cent Rep. 2019;49","DOI":"10.1002\/hast.1018"},{"issue":"2","key":"784_CR28","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1007\/s12687-019-00434-7","volume":"11","author":"K Clift","year":"2020","unstructured":"Clift K, Macklin S, Halverson C, McCormick JB, Abu Dabrh AM, Hines SJ. Patients\u2019 views on variants of uncertain significance across indications. Community Genet. 2020;11(2):139\u201345.","journal-title":"Community Genet"},{"issue":"4","key":"784_CR29","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1002\/jgc4.1130","volume":"28","author":"C Reuter","year":"2019","unstructured":"Reuter C, Chun N, Pariani M, Hanson-Kahn A. Understanding\u00a0variants\u00a0of uncertain significance in the era of multigene panels: through the eyes of the patient. J Genet Couns. 2019;28(4):878\u201386.","journal-title":"J Genet Couns"},{"issue":"10","key":"784_CR30","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2023.39571","volume":"6","author":"E Chen","year":"2023","unstructured":"Chen E, Facio FM, Aradhya KW, Rojahn S, Hatchell KE, Aguilar S, Ouyang K, Saitta S, Hanson-Kwan AK, Capurro NN, Takamine E, Jamuar SS, McKnight D, Johnson B, Aradhya S. Rates and classification of variants of uncertain significance in hereditary disease genetic testing. JAMA Netw Open. 2023;6(10): e2339571.","journal-title":"JAMA Netw Open"},{"issue":"17","key":"784_CR31","doi-asserted-by":"publisher","first-page":"2134","DOI":"10.1016\/j.jacc.2017.02.046","volume":"69","author":"N Lahrouchi","year":"2017","unstructured":"Lahrouchi N, Raju H, Lodder EM, Papatheodorou E, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen MC, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Bezzina CR, Sheppard MN, Behr ER. Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome. J Am Coll Cardiol. 2017;69(17):2134\u201345.","journal-title":"J Am Coll Cardiol"},{"issue":"5","key":"784_CR32","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1002\/humu.23183","volume":"38","author":"ED Smith","year":"2017","unstructured":"Smith ED, Radtke K, Rossi M, Shinde DN, Darabi S, El-Khechen D, Powis Z, Helbig K, Waller K, Grange DK, Tang S, Farwell Hagman KD. Classification of genes: standardized clinical validity assessment of gene-disease associations aids diagnostic exome analysis and reclassifications. Hum Mutat. 2017;38(5):600\u20138.","journal-title":"Hum Mutat"},{"issue":"1","key":"784_CR33","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1002\/jgc4.1313","volume":"30","author":"S Cherny","year":"2021","unstructured":"Cherny S, Olson R, Chiodo K, Balmert LC, Webster G. Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology. J Genet Couns. 2021;30(1):229\u201336.","journal-title":"J Genet Couns"},{"issue":"11","key":"784_CR34","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1093\/hmg\/ddae028","volume":"33","author":"DC Brock","year":"2024","unstructured":"Brock DC, Wang M, Hussain HMJ, et al. Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases. Hum Mol Genet. 2024;33(11):945\u201357.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"784_CR35","doi-asserted-by":"publisher","first-page":"12752","DOI":"10.1038\/s41598-019-49224-8","volume":"9","author":"Y Tian","year":"2019","unstructured":"Tian Y, Pesaran T, Chamberlin A, Fenwick RB, Li S, Gau C-L, Chao EC, Lu H-M, Black MH, Qian D. REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification. Sci Rep. 2019;9(1):12752.","journal-title":"Sci Rep"},{"issue":"2","key":"784_CR36","doi-asserted-by":"publisher","first-page":"e004370","DOI":"10.1161\/CIRCGEN.123.004370","volume":"17","author":"VA Krysov","year":"2024","unstructured":"Krysov VA, Wilson RH, Ten NS, et al. Regional variation in cardiovascular genes enables a tractable genome editing strategy. Circ Genom Precis Med. 2024;17(2):e004370.","journal-title":"Circ Genom Precis Med."},{"issue":"6","key":"784_CR37","doi-asserted-by":"publisher","first-page":"euad156","DOI":"10.1093\/europace\/euad156","volume":"25","author":"C Steinberg","year":"2023","unstructured":"Steinberg C, Roston TM, van der Werf C, Sanatani S, Chen SRW, Wilde AAM, Krahn AD. RYR2-ryanodinopathies: from\u00a0calcium\u00a0overload to\u00a0calcium\u00a0deficiency. Europace. 2023;25(6):euad156.","journal-title":"Europace"},{"issue":"11","key":"784_CR38","doi-asserted-by":"publisher","first-page":"euad317","DOI":"10.1093\/europace\/euad317","volume":"25","author":"V Novelli","year":"2023","unstructured":"Novelli V, Faultless T, Cerrone M, Care M, Manzoni M, Bober SL, Adler A, De-Giorgio F, Spears D, Gollob MH. Enhancing the interpretation of genetic observations in\u00a0KCNQ1\u00a0in unselected populations: relevance to secondary findings. Europace. 2023;25(11):euad317.","journal-title":"Europace"},{"issue":"5","key":"784_CR39","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1161\/CIRCGEN.120.002929","volume":"13","author":"AS Helms","year":"2020","unstructured":"Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM. Spatial and functional distribution of MYBPC3 pathogenic variants and clinical outcomes in patients with hypertrophic cardiomyopathy. Circ Genom Precis Med. 2020;13(5):396\u2013405.","journal-title":"Circ Genom Precis Med."},{"issue":"8","key":"784_CR40","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1038\/gim.2013.204","volume":"16","author":"TJ Pugh","year":"2014","unstructured":"Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014;16(8):601\u20138.","journal-title":"Genet Med"},{"issue":"6","key":"784_CR41","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.122.003704","volume":"15","author":"M Bourfiss","year":"2022","unstructured":"Bourfiss M, van Vugt M, Alasiri AI, Ruijsink B, van Setten J, Schmidt AF, Dooijes D, Puyol-Ant\u00f3n E, Velthuis BK, van Tintelen JP, Te Riele ASJM, Baas AF, Asselbergs FW. Prevalence and disease expression of pathogenic and likely pathogenic variants associated with inherited cardiomyopathies in the general population. Circ Genom Precis Med. 2022;15(6): e003704.","journal-title":"Circ Genom Precis Med."}],"container-title":["Molecular Diagnosis &amp; Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-025-00784-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40291-025-00784-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-025-00784-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,4]],"date-time":"2025-07-04T08:15:45Z","timestamp":1751616945000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s40291-025-00784-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,21]]},"references-count":41,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["784"],"URL":"https:\/\/doi.org\/10.1007\/s40291-025-00784-8","relation":{},"ISSN":["1177-1062","1179-2000"],"issn-type":[{"value":"1177-1062","type":"print"},{"value":"1179-2000","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,21]]},"assertion":[{"value":"27 April 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 May 2025","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The datasets used and\/or analyzed during the current study are available from the corresponding author on request.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data availability"}},{"value":"The authors have nothing to declare regarding the preparation of this manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding statement"}},{"value":"APP: substantial contributions to the conception and design of the work, to the analysis and interpretation of data and to drafting and substantively revising the work. VF: substantial contributions to the acquisition, analysis and interpretation of data and to substantively revising the work. ES: contribution to substantively revising the work. CM: contribution to substantively revising the work. AB: contribution to substantively revising the work. AM: contribution to substantively revising the work. VA: contribution to substantively revising the work. GV: contribution to substantively revising the work. EP: contribution to substantively revising the work. AL: contribution to substantively revising the work. ID: contribution to substantively revising the work. FE: contribution to the conception and design of the work, to the analysis and interpretation of data and to substantively revising the work.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Author contributions"}},{"value":"All patients or their legal representatives provided signed, informed consent to allow the collection of personal clinical and genetic data and their use for research purposes. The data were collected in compliance with the national French data protection regulations (Commission Nationale de l\u2019Informatique et des Libert\u00e9s [CNIL]). Due to the design of the study being based on routine clinical practice, approval of the study protocol by an institutional review board was not necessary. Conversely, according to French legislation, the study protocol was approved by the appropriate hospital committee and complied with the Declaration of Helsinki 1975 and with its further amendments.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics declaration"}},{"value":"The authors (APP, VF, ES, CM, AB, AM, VA, GV, EP, AL, ID, FE) have no conflicts of interest to declare.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable.","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent (participation and publication)"}},{"value":"MutScore is available from\u00a0\u00a0or from\u00a0, and it can be used under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. For commercial uses of MutScore, please contact Carlo Rivolta (carlo.rivolta@iob.ch).","order":8,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}}]}}