{"id":"https://openalex.org/W7224282328","doi":"https://doi.org/10.1111/jce.70546","title":"Whole\u2010Exome Sequencing Identifies a Rare CSRP3 Variant Associated With Familial Brugada Syndrome in a Lebanese Family","display_name":"Whole\u2010Exome Sequencing Identifies a Rare CSRP3 Variant Associated With Familial Brugada Syndrome in a Lebanese Family","publication_year":2026,"publication_date":"2026-10-29","ids":{"openalex":"https://openalex.org/W7224282328","doi":"https://doi.org/10.1111/jce.70546","pmid":"https://pubmed.ncbi.nlm.nih.gov/42956188"},"language":"en","primary_location":{"id":"doi:10.1111/jce.70546","doi":"https://doi.org/10.1111/jce.70546","is_oa":true,"landing_page_url":"https://doi.org/10.1111/jce.70546","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jce.70546","source":{"id":"https://openalex.org/S143832381","display_name":"Journal of Cardiovascular Electrophysiology","issn_l":"1045-3873","issn":["1045-3873","1540-8167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Cardiovascular Electrophysiology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jce.70546","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035901530","display_name":"Zainab Bashir","orcid":"https://orcid.org/0000-0003-2687-1165","observed_orcids":["https://orcid.org/0000-0003-2687-1165"]},"institutions":[{"id":"https://openalex.org/I4210144839","display_name":"Hamad bin Khalifa University","ror":"https://ror.org/03eyq4y97","country_code":"QA","type":"education","lineage":["https://openalex.org/I4210144839"]}],"countries":["QA"],"is_corresponding":false,"raw_author_name":"Zainab Bashir","raw_affiliation_strings":["College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar"],"raw_orcid":"https://orcid.org/0000-0003-2687-1165","affiliations":[{"raw_affiliation_string":"College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar","institution_ids":["https://openalex.org/I4210144839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023489302","display_name":"Ayat Kadhi","orcid":"https://orcid.org/0000-0003-2099-4316","observed_orcids":["https://orcid.org/0000-0003-2099-4316"]},"institutions":[{"id":"https://openalex.org/I4210130525","display_name":"Sidra Medical and Research Center","ror":"https://ror.org/03acdk243","country_code":"QA","type":"healthcare","lineage":["https://openalex.org/I4210130525"]},{"id":"https://openalex.org/I4210136017","display_name":"University of Doha for Science and Technology","ror":"https://ror.org/041ddxq18","country_code":"QA","type":"education","lineage":["https://openalex.org/I4210136017"]}],"countries":["QA"],"is_corresponding":false,"raw_author_name":"Ayat Kadhi","raw_affiliation_strings":["College of Health and Sciences University of Doha for Science and Technology Doha Qatar","Sidra Medicine Doha Qatar"],"raw_orcid":"https://orcid.org/0000-0003-2099-4316","affiliations":[{"raw_affiliation_string":"College of Health and Sciences University of Doha for Science and Technology Doha Qatar","institution_ids":["https://openalex.org/I4210136017"]},{"raw_affiliation_string":"Sidra Medicine Doha Qatar","institution_ids":["https://openalex.org/I4210130525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035278599","display_name":"Jad A. Ballout","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210104580","display_name":"American University of Beirut Medical Center","ror":"https://ror.org/00wmm6v75","country_code":"LB","type":"healthcare","lineage":["https://openalex.org/I4210104580"]},{"id":"https://openalex.org/I98635879","display_name":"American University of Beirut","ror":"https://ror.org/04pznsd21","country_code":"LB","type":"education","lineage":["https://openalex.org/I98635879"]}],"countries":["LB"],"is_corresponding":false,"raw_author_name":"Jad Ballout","raw_affiliation_strings":["Department of Internal Medicine, Cardiology Division, Faculty of Medicine and Medical Center American University of Beirut Beirut Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Cardiology Division, Faculty of Medicine and Medical Center American University of Beirut Beirut Lebanon","institution_ids":["https://openalex.org/I4210104580","https://openalex.org/I98635879"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160135475","display_name":"Bushra Samara","orcid":"https://orcid.org/0009-0007-4066-0424","observed_orcids":["https://orcid.org/0009-0007-4066-0424"]},"institutions":[{"id":"https://openalex.org/I4210144839","display_name":"Hamad bin Khalifa University","ror":"https://ror.org/03eyq4y97","country_code":"QA","type":"education","lineage":["https://openalex.org/I4210144839"]}],"countries":["QA"],"is_corresponding":false,"raw_author_name":"Bushra Samara","raw_affiliation_strings":["College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar"],"raw_orcid":"https://orcid.org/0009-0007-4066-0424","affiliations":[{"raw_affiliation_string":"College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar","institution_ids":["https://openalex.org/I4210144839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112181501","display_name":"Maurice Khoury","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210104580","display_name":"American University of Beirut Medical Center","ror":"https://ror.org/00wmm6v75","country_code":"LB","type":"healthcare","lineage":["https://openalex.org/I4210104580"]},{"id":"https://openalex.org/I98635879","display_name":"American University of Beirut","ror":"https://ror.org/04pznsd21","country_code":"LB","type":"education","lineage":["https://openalex.org/I98635879"]}],"countries":["LB"],"is_corresponding":false,"raw_author_name":"Maurice Khoury","raw_affiliation_strings":["Department of Internal Medicine, Cardiology Division, Faculty of Medicine and Medical Center American University of Beirut Beirut Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Cardiology Division, Faculty of Medicine and Medical Center American University of Beirut Beirut Lebanon","institution_ids":["https://openalex.org/I4210104580","https://openalex.org/I98635879"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005384946","display_name":"Georges M. Nemer","orcid":"https://orcid.org/0000-0003-2157-5279","observed_orcids":["https://orcid.org/0000-0003-2157-5279"]},"institutions":[{"id":"https://openalex.org/I4210144839","display_name":"Hamad bin Khalifa University","ror":"https://ror.org/03eyq4y97","country_code":"QA","type":"education","lineage":["https://openalex.org/I4210144839"]},{"id":"https://openalex.org/I98635879","display_name":"American University of Beirut","ror":"https://ror.org/04pznsd21","country_code":"LB","type":"education","lineage":["https://openalex.org/I98635879"]}],"countries":["LB","QA"],"is_corresponding":true,"raw_author_name":"Georges Nemer","raw_affiliation_strings":["College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar","Department of Biochemistry and Molecular Genetics, Faculty of Medicine American University of Beirut Beirut Lebanon"],"raw_orcid":"https://orcid.org/0000-0003-2157-5279","affiliations":[{"raw_affiliation_string":"College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar","institution_ids":["https://openalex.org/I4210144839"]},{"raw_affiliation_string":"Department of Biochemistry and Molecular Genetics, Faculty of Medicine American University of Beirut Beirut Lebanon","institution_ids":["https://openalex.org/I98635879"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059520489","display_name":"Marwan M. Refaat","orcid":"https://orcid.org/0000-0002-3210-1987","observed_orcids":["https://orcid.org/0000-0002-3210-1987"]},"institutions":[{"id":"https://openalex.org/I4210104580","display_name":"American University of Beirut Medical Center","ror":"https://ror.org/00wmm6v75","country_code":"LB","type":"healthcare","lineage":["https://openalex.org/I4210104580"]},{"id":"https://openalex.org/I98635879","display_name":"American University of Beirut","ror":"https://ror.org/04pznsd21","country_code":"LB","type":"education","lineage":["https://openalex.org/I98635879"]}],"countries":["LB"],"is_corresponding":true,"raw_author_name":"Marwan Refaat","raw_affiliation_strings":["Department of Biochemistry and Molecular Genetics, Faculty of Medicine American University of Beirut Beirut Lebanon","Department of Internal Medicine, Cardiology Division, Faculty of Medicine and Medical Center American University of Beirut Beirut Lebanon"],"raw_orcid":"https://orcid.org/0000-0002-3210-1987","affiliations":[{"raw_affiliation_string":"Department of Biochemistry and Molecular Genetics, Faculty of Medicine American University of Beirut Beirut Lebanon","institution_ids":["https://openalex.org/I98635879"]},{"raw_affiliation_string":"Department of Internal Medicine, Cardiology Division, Faculty of Medicine and Medical Center American University of Beirut Beirut Lebanon","institution_ids":["https://openalex.org/I4210104580","https://openalex.org/I98635879"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5005384946","https://openalex.org/A5059520489"],"corresponding_institution_ids":["https://openalex.org/I4210104580","https://openalex.org/I4210144839","https://openalex.org/I98635879"],"apc_list":{"value":4500,"currency":"USD","value_usd":4500},"apc_paid":{"value":4500,"currency":"USD","value_usd":4500},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.85710057,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11922","display_name":"Cardiovascular Effects of Exercise","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/brugada-syndrome","display_name":"Brugada syndrome","score":0.9980000257492065},{"id":"https://openalex.org/keywords/csrp3","display_name":"CSRP3","score":0.9909999966621399},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6700000166893005},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.6759999990463257},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":0.7250000238418579},{"id":"https://openalex.org/keywords/inherited-arrhythmia-syndromes","display_name":"inherited arrhythmia","score":0.949999988079071},{"id":"https://openalex.org/keywords/lim-domain","display_name":"LIM domain","score":0.9440000057220459},{"id":"https://openalex.org/keywords/recessive-inheritance","display_name":"recessive inheritance","score":0.6669999957084656},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.39800000190734863},{"id":"https://openalex.org/keywords/lebanese-family","display_name":"Lebanese family","score":0.5120000243186951}],"concepts":[{"id":"https://openalex.org/C2777382798","wikidata":"https://www.wikidata.org/wiki/Q599683","display_name":"Brugada syndrome","level":2,"score":0.8719000220298767},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7242000102996826},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6381000280380249},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6370999813079834},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.49410000443458557},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4803999960422516},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.45419999957084656},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4334000051021576},{"id":"https://openalex.org/C2775935837","wikidata":"https://www.wikidata.org/wiki/Q202837","display_name":"Sudden cardiac death","level":2,"score":0.3959999978542328},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.3785000145435333},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.36469998955726624},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.36230000853538513},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.3517000079154968},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.32249999046325684},{"id":"https://openalex.org/C51679486","wikidata":"https://www.wikidata.org/wiki/Q380546","display_name":"DNA sequencing","level":3,"score":0.31839999556541443},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.31619998812675476},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.29350000619888306},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.2791000008583069},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2745000123977661},{"id":"https://openalex.org/C2778178275","wikidata":"https://www.wikidata.org/wiki/Q1649897","display_name":"Catecholaminergic polymorphic ventricular tachycardia","level":5,"score":0.273499995470047},{"id":"https://openalex.org/C67636389","wikidata":"https://www.wikidata.org/wiki/Q784237","display_name":"Genetic predisposition","level":3,"score":0.26739999651908875},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.2621999979019165},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.2621000111103058},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.2615000009536743},{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.259799987077713},{"id":"https://openalex.org/C24432333","wikidata":"https://www.wikidata.org/wiki/Q2068526","display_name":"Whole genome sequencing","level":4,"score":0.2597000002861023},{"id":"https://openalex.org/C2988455589","wikidata":"https://www.wikidata.org/wiki/Q189331","display_name":"Cardiac arrhythmia","level":3,"score":0.25279998779296875},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.25119999051094055}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1111/jce.70546","doi":"https://doi.org/10.1111/jce.70546","is_oa":true,"landing_page_url":"https://doi.org/10.1111/jce.70546","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jce.70546","source":{"id":"https://openalex.org/S143832381","display_name":"Journal of Cardiovascular Electrophysiology","issn_l":"1045-3873","issn":["1045-3873","1540-8167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Cardiovascular Electrophysiology","raw_type":"journal-article"},{"id":"pmid:42956188","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42956188","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of cardiovascular electrophysiology","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1111/jce.70546","doi":"https://doi.org/10.1111/jce.70546","is_oa":true,"landing_page_url":"https://doi.org/10.1111/jce.70546","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/jce.70546","source":{"id":"https://openalex.org/S143832381","display_name":"Journal of Cardiovascular Electrophysiology","issn_l":"1045-3873","issn":["1045-3873","1540-8167"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Cardiovascular Electrophysiology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9907000064849854}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320309999","display_name":"American University of Beirut","ror":"https://ror.org/04pznsd21"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7224282328.pdf","grobid_xml":"https://content.openalex.org/works/W7224282328.grobid-xml"},"referenced_works_count":23,"referenced_works":["https://openalex.org/W880316384","https://openalex.org/W1542383596","https://openalex.org/W1966485417","https://openalex.org/W2036754849","https://openalex.org/W2036825242","https://openalex.org/W2079023701","https://openalex.org/W2119676819","https://openalex.org/W2122053543","https://openalex.org/W2138237143","https://openalex.org/W2168974130","https://openalex.org/W2329811490","https://openalex.org/W2884066227","https://openalex.org/W2888481150","https://openalex.org/W3083406432","https://openalex.org/W3092320206","https://openalex.org/W3096498613","https://openalex.org/W3209500540","https://openalex.org/W4289918690","https://openalex.org/W4303614378","https://openalex.org/W4324141222","https://openalex.org/W4385986624","https://openalex.org/W4386861232","https://openalex.org/W4393357696"],"related_works":["https://openalex.org/W4406947134","https://openalex.org/W2120290322","https://openalex.org/W2315142326","https://openalex.org/W7097679596","https://openalex.org/W4403817799","https://openalex.org/W2947516670","https://openalex.org/W1611129798","https://openalex.org/W4200531305","https://openalex.org/W2343193164","https://openalex.org/W7167897180"],"abstract_inverted_index":{"INTRODUCTION:":[0],"Brugada":[1,176,241],"syndrome":[2,242],"(BrS)":[3],"is":[4,259],"an":[5,10,188],"inherited":[6,253],"arrhythmia":[7,254],"associated":[8],"with":[9,67],"increased":[11],"risk":[12],"of":[13,33,60,125,191,248,269],"sudden":[14],"cardiac":[15,23,47,250],"death.":[16],"Although":[17,256],"traditionally":[18],"regarded":[19],"as":[20,205,235],"a":[21,63,132,153,236],"primary":[22],"channelopathy,":[24],"pathogenic":[25,167,170,207],"variants":[26,94,171,281],"in":[27,62,78,174,252,272],"SCN5A":[28],"account":[29],"for":[30,240,277],"only":[31,160],"20%-30%":[32],"clinically":[34],"diagnosed":[35],"cases,":[36],"leaving":[37],"most":[38],"patients":[39],"genetically":[40],"unresolved.":[41],"Emerging":[42],"evidence":[43],"suggests":[44],"that":[45,221],"structural":[46,115,212,249],"genes":[48,251],"may":[49,222],"also":[50],"contribute":[51],"to":[52,98,119,261,283],"BrS":[53,61,284],"susceptibility.":[54,285],"We":[55],"investigated":[56],"the":[57,121,126,159,203,217,245,267],"genetic":[58],"basis":[59],"consanguineous":[64,273],"Lebanese":[65,192],"family":[66],"three":[68,146],"affected":[69,80,147],"brothers.":[70],"METHODS":[71],"AND":[72],"RESULTS:":[73],"Whole-exome":[74,129],"sequencing":[75,130,271],"was":[76,181,195],"performed":[77,118],"all":[79,145],"individuals,":[81],"followed":[82],"by":[83,144],"variant":[84,137,180,204],"calling,":[85],"annotation,":[86,113],"and":[87,104,114,187,211,226,243,274],"phenotype-driven":[88],"prioritization":[89],"using":[90],"Franklin":[91],"(Genoox).":[92],"Candidate":[93],"were":[95,117,172],"evaluated":[96],"according":[97],"allele":[99],"frequency,":[100],"inheritance":[101,155],"model,":[102,156],"segregation,":[103],"ACMG/AMP":[105],"classification.":[106],"Evolutionary":[107],"conservation,":[108],"AlphaMissense":[109,201],"prediction,":[110],"protein":[111,224],"domain":[112,220],"modeling":[116,213],"assess":[120],"potential":[122],"functional":[123,257],"impact":[124],"prioritized":[127],"variant.":[128],"identified":[131,173],"rare":[133,161,279],"homozygous":[134,162],"CSRP3":[135,157,234],"missense":[136],"(NM_003476.5:c.56":[138],"A":[139],">":[140],"G;":[141],"p.His19Arg)":[142],"shared":[143],"siblings.":[148],"Following":[149],"exome-wide":[150],"filtering":[151],"under":[152],"recessive":[154],"represented":[158],"coding":[163],"variant,":[164],"while":[165],"no":[166],"or":[168],"likely":[169,206],"established":[175],"syndrome-associated":[177],"genes.":[178],"The":[179],"absent":[182],"from":[183],"public":[184],"population":[185],"databases":[186],"internal":[189],"cohort":[190],"exomes.":[193],"His19":[194],"highly":[196],"conserved":[197],"across":[198],"vertebrate":[199],"species,":[200],"classified":[202],"(score":[208],"=":[209],"0.942),":[210],"predicted":[214],"alterations":[215],"within":[216],"N-terminal":[218],"LIM":[219],"affect":[223],"stability":[225],"local":[227],"residue":[228],"interactions.":[229],"CONCLUSIONS:":[230],"Our":[231],"findings":[232],"nominate":[233],"candidate":[237,280],"susceptibility":[238],"gene":[239],"support":[244],"emerging":[246],"role":[247],"syndromes.":[255],"validation":[258],"required":[260],"establish":[262],"causality,":[263],"this":[264],"study":[265],"highlights":[266],"value":[268],"whole-exome":[270],"underrepresented":[275],"populations":[276],"identifying":[278],"contributing":[282]},"counts_by_year":[],"updated_date":"2026-11-01T11:40:01.658920","created_date":"2026-10-30T00:00:00"}