{"id":"https://openalex.org/W7214049618","doi":"https://doi.org/10.64898/2026.09.16.26363254","title":"Gene-Based Rare Variant Burden Analyses Across Biobanks Identify Novel High-Risk Genes for Thoracic Aortic Disease","display_name":"Gene-Based Rare Variant Burden Analyses Across Biobanks Identify Novel High-Risk Genes for Thoracic Aortic Disease","publication_year":2026,"publication_date":"2026-09-22","ids":{"openalex":"https://openalex.org/W7214049618","doi":"https://doi.org/10.64898/2026.09.16.26363254","pmid":"https://pubmed.ncbi.nlm.nih.gov/42818172","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13622307"},"language":"en","primary_location":{"id":"doi:10.64898/2026.09.16.26363254","doi":"https://doi.org/10.64898/2026.09.16.26363254","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.16.26363254","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2026/09/22/2026.09.16.26363254.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.medrxiv.org/content/medrxiv/early/2026/09/22/2026.09.16.26363254.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5074749955","display_name":"David R. Murdock","orcid":"https://orcid.org/0000-0002-8536-3091","observed_orcids":["https://orcid.org/0000-0002-8536-3091"]},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David R. Murdock","raw_affiliation_strings":["Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA"],"raw_orcid":"https://orcid.org/0000-0002-8536-3091","affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA","institution_ids":["https://openalex.org/I919571938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003424740","display_name":"Pujun Guan","orcid":"https://orcid.org/0000-0002-7288-9369","observed_orcids":["https://orcid.org/0000-0002-7288-9369"]},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Pujun Guan","raw_affiliation_strings":["Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA","institution_ids":["https://openalex.org/I919571938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062426818","display_name":"Dongchuan Guo","orcid":"https://orcid.org/0000-0002-7402-3104","observed_orcids":["https://orcid.org/0000-0002-7402-3104"]},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Dongchuan Guo","raw_affiliation_strings":["Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA","institution_ids":["https://openalex.org/I919571938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057628240","display_name":"Francisca Bermudez","orcid":"https://orcid.org/0009-0000-2922-9210","observed_orcids":["https://orcid.org/0009-0000-2922-9210"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Francisca Bermudez","raw_affiliation_strings":["Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037585094","display_name":"John S. DePaolo","orcid":"https://orcid.org/0000-0002-6829-2594","observed_orcids":["https://orcid.org/0000-0002-6829-2594"]},"institutions":[{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John S. DePaolo","raw_affiliation_strings":["Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019158138","display_name":"John Cabot","orcid":"https://orcid.org/0000-0002-0029-0699","observed_orcids":["https://orcid.org/0000-0002-0029-0699"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Cabot","raw_affiliation_strings":["Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, Stanford, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Vascular Surgery, Department of Surgery, Stanford University School of Medicine, Stanford, CA, USA","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038328241","display_name":"Sumaiya Nazeen","orcid":"https://orcid.org/0000-0002-6313-6357","observed_orcids":["https://orcid.org/0000-0002-6313-6357"]},"institutions":[{"id":"https://openalex.org/I107606265","display_name":"Broad Institute","ror":"https://ror.org/05a0ya142","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I107606265"]},{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sumaiya Nazeen","raw_affiliation_strings":["Broad Institute of MIT and Harvard, Cambridge, MA, USA","Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA","Division of Genetics, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Broad Institute of MIT and Harvard, Cambridge, MA, USA","institution_ids":["https://openalex.org/I107606265"]},{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5152457359","display_name":"Habib Nasir","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Habib Nasir","raw_affiliation_strings":["Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021299742","display_name":"Rajat M. Gupta","orcid":"https://orcid.org/0000-0001-9865-4106","observed_orcids":["https://orcid.org/0000-0001-9865-4106"]},"institutions":[{"id":"https://openalex.org/I1283280774","display_name":"Brigham and Women's Hospital","ror":"https://ror.org/04b6nzv94","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I121934306","https://openalex.org/I1283280774","https://openalex.org/I48633490"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rajat M. Gupta","raw_affiliation_strings":["Division of Cardiovascular Medicine, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, MA, USA","Division of Genetics, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, MA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Cardiovascular Medicine, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]},{"raw_affiliation_string":"Division of Genetics, Brigham and Women\u2019s Hospital and Harvard Medical School, Boston, MA, USA","institution_ids":["https://openalex.org/I1283280774","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5152491162","display_name":"Alok Jha","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4387153466","display_name":"Weill Cornell Medicine","ror":"https://ror.org/02r109517","country_code":"US","type":"education","lineage":["https://openalex.org/I205783295","https://openalex.org/I4387153466"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alok Jha","raw_affiliation_strings":["Center for Neurogenetics, Weill Cornell Medicine, New York, NY, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Center for Neurogenetics, Weill Cornell Medicine, New York, NY, USA","institution_ids":["https://openalex.org/I4387153466"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090408695","display_name":"John Alex Elefteriades","orcid":"https://orcid.org/0000-0001-6255-8139","observed_orcids":["https://orcid.org/0000-0001-6255-8139"]},"institutions":[{"id":"https://openalex.org/I1323778983","display_name":"Yale New Haven Hospital","ror":"https://ror.org/05tszed37","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1323778983","https://openalex.org/I4210117499"]},{"id":"https://openalex.org/I32971472","display_name":"Yale University","ror":"https://ror.org/03v76x132","country_code":"US","type":"education","lineage":["https://openalex.org/I32971472"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John Elefteriades","raw_affiliation_strings":["Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, CT, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, CT, USA","institution_ids":["https://openalex.org/I1323778983","https://openalex.org/I32971472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114800022","display_name":"Bobbi McGivern","orcid":"https://orcid.org/0009-0006-0882-1016","observed_orcids":["https://orcid.org/0009-0006-0882-1016"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Bobbi McGivern","raw_affiliation_strings":["GeneDx, LLC, Gaithersburg, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx, LLC, Gaithersburg, MD, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089286623","display_name":"Kirsty M. McWalter","orcid":"https://orcid.org/0000-0002-1654-9036","observed_orcids":["https://orcid.org/0000-0002-1654-9036"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Kirsty McWalter","raw_affiliation_strings":["GeneDx, LLC, Gaithersburg, MD, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"GeneDx, LLC, Gaithersburg, MD, USA","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5120964312","display_name":"Samantha Anderson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285301757","display_name":"Rush University Medical Center","ror":"https://ror.org/01j7c0b24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285301757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Samantha K. Anderson","raw_affiliation_strings":["Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA","institution_ids":["https://openalex.org/I1285301757"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Carolyn Jones","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285301757","display_name":"Rush University Medical Center","ror":"https://ror.org/01j7c0b24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285301757"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carolyn Jones","raw_affiliation_strings":["Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA","institution_ids":["https://openalex.org/I1285301757"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048214696","display_name":"Julie Ann Lynch","orcid":"https://orcid.org/0000-0003-0108-2127","observed_orcids":["https://orcid.org/0000-0003-0108-2127"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]},{"id":"https://openalex.org/I4210089864","display_name":"VA Salt Lake City Healthcare System","ror":"https://ror.org/007fyq698","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210089864","https://openalex.org/I4210113540"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Julie A. Lynch","raw_affiliation_strings":["Department of Internal Medicine, Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA","VA Informatics and Computing Infrastructure (VINCI), Salt Lake City VA, Salt Lake City, UT, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Internal Medicine, Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA","institution_ids":["https://openalex.org/I223532165"]},{"raw_affiliation_string":"VA Informatics and Computing Infrastructure (VINCI), Salt Lake City VA, Salt Lake City, UT, USA","institution_ids":["https://openalex.org/I4210089864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038073374","display_name":"Kyong\u2010Mi Chang","orcid":"https://orcid.org/0000-0001-6811-9364","observed_orcids":["https://orcid.org/0000-0001-6811-9364","https://orcid.org/0000-0003-0108-2127"]},"institutions":[{"id":"https://openalex.org/I4210133394","display_name":"Philadelphia VA Medical Center","ror":"https://ror.org/03j05zz84","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210133394","https://openalex.org/I4210147340"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kyong-Mi Chang","raw_affiliation_strings":["Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA","Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I4210133394"]},{"raw_affiliation_string":"Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058198453","display_name":"Philip S. Tsao","orcid":"https://orcid.org/0000-0001-7274-9318","observed_orcids":["https://orcid.org/0000-0001-7274-9318"]},"institutions":[{"id":"https://openalex.org/I204866599","display_name":"VA Palo Alto Health Care System","ror":"https://ror.org/00nr17z89","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I204866599","https://openalex.org/I2799886695","https://openalex.org/I4210125474"]},{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Philip S. Tsao","raw_affiliation_strings":["Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA","VA Palo Alto Health Care System, Palo Alto, CA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"raw_affiliation_string":"VA Palo Alto Health Care System, Palo Alto, CA, USA","institution_ids":["https://openalex.org/I204866599"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064046037","display_name":"VA Million Veteran Program","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"VA Million Veteran Program","raw_affiliation_strings":["UTHealth Houston 6431 Fannin St , MSB 6.100 Houston , Texas 77030"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UTHealth Houston 6431 Fannin St , MSB 6.100 Houston , Texas 77030","institution_ids":["https://openalex.org/I919571938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5127326405","display_name":"Penn Medicine Biobank","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Penn Medicine BioBank","raw_affiliation_strings":["UTHealth Houston 6431 Fannin St , MSB 6.100 Houston , Texas 77030"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UTHealth Houston 6431 Fannin St , MSB 6.100 Houston , Texas 77030","institution_ids":["https://openalex.org/I919571938"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082890040","display_name":"Scott M. Damrauer","orcid":"https://orcid.org/0000-0001-8009-1632","observed_orcids":["https://orcid.org/0000-0001-8009-1632"]},"institutions":[{"id":"https://openalex.org/I4210133394","display_name":"Philadelphia VA Medical Center","ror":"https://ror.org/03j05zz84","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210133394","https://openalex.org/I4210147340"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Scott M. Damrauer","raw_affiliation_strings":["Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA","Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I4210133394"]},{"raw_affiliation_string":"Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012037644","display_name":"Han Chen","orcid":"https://orcid.org/0000-0002-9510-4923","observed_orcids":["https://orcid.org/0000-0002-9510-4923"]},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Han Chen","raw_affiliation_strings":["Department of Epidemiology, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Epidemiology, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA","institution_ids":["https://openalex.org/I919571938"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080053699","display_name":"Dianna M. Milewicz","orcid":"https://orcid.org/0000-0002-7806-0068","observed_orcids":["https://orcid.org/0000-0002-7806-0068"]},"institutions":[{"id":"https://openalex.org/I919571938","display_name":"The University of Texas Health Science Center at Houston","ror":"https://ror.org/03gds6c39","country_code":"US","type":"education","lineage":["https://openalex.org/I919571938"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Dianna M. Milewicz","raw_affiliation_strings":["Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA","institution_ids":["https://openalex.org/I919571938"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":15,"corresponding_author_ids":["https://openalex.org/A5080053699"],"corresponding_institution_ids":["https://openalex.org/I919571938"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":null,"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/T11310","display_name":"Connective tissue disorders research","score":0.899399995803833,"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"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.899399995803833,"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/T10618","display_name":"Aortic Disease and Treatment Approaches","score":0.06539999693632126,"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":0.014999999664723873,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/thoracic-aortic-disease","display_name":"thoracic aortic disease","score":0.9829999804496765},{"id":"https://openalex.org/keywords/thoracic-aortic-aneurysm","display_name":"thoracic aortic aneurysm","score":0.8960000276565552},{"id":"https://openalex.org/keywords/aortic-dissection","display_name":"aortic dissection","score":0.9959999918937683},{"id":"https://openalex.org/keywords/rare-variants","display_name":"rare variants","score":0.6610000133514404},{"id":"https://openalex.org/keywords/heritable-thoracic-aortic-disease","display_name":"heritable thoracic aortic disease","score":0.8539999723434448},{"id":"https://openalex.org/keywords/fndc3b","display_name":"FNDC3B","score":0.8360000252723694},{"id":"https://openalex.org/keywords/rock1","display_name":"ROCK1","score":0.8320000171661377},{"id":"https://openalex.org/keywords/urm1","display_name":"Urm1","score":0.9480000138282776},{"id":"https://openalex.org/keywords/slfn11","display_name":"SLFN11","score":0.9919999837875366},{"id":"https://openalex.org/keywords/enpp1","display_name":"ENPP1","score":0.9750000238418579},{"id":"https://openalex.org/keywords/clec16a","display_name":"CLEC16A","score":0.9990000128746033},{"id":"https://openalex.org/keywords/crem","display_name":"CREM","score":1.0},{"id":"https://openalex.org/keywords/versican","display_name":"versican","score":0.9959999918937683},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.753000020980835},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.9570000171661377},{"id":"https://openalex.org/keywords/risk-genes","display_name":"risk genes","score":0.5139999985694885}],"concepts":[{"id":"https://openalex.org/C2780847584","wikidata":"https://www.wikidata.org/wiki/Q3616648","display_name":"Thoracic aortic aneurysm","level":4,"score":0.8015000224113464},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6521000266075134},{"id":"https://openalex.org/C2777323849","wikidata":"https://www.wikidata.org/wiki/Q616003","display_name":"Aortic aneurysm","level":3,"score":0.5647000074386597},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5271999835968018},{"id":"https://openalex.org/C116567970","wikidata":"https://www.wikidata.org/wiki/Q864217","display_name":"Biobank","level":2,"score":0.5131999850273132},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.47859999537467957},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.47859999537467957},{"id":"https://openalex.org/C2994150672","wikidata":"https://www.wikidata.org/wiki/Q17143044","display_name":"Aortic repair","level":3,"score":0.4415000081062317},{"id":"https://openalex.org/C2779993142","wikidata":"https://www.wikidata.org/wiki/Q594660","display_name":"Aortic dissection","level":3,"score":0.4408000111579895},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4375},{"id":"https://openalex.org/C2775862295","wikidata":"https://www.wikidata.org/wiki/Q2660911","display_name":"Dissection (medical)","level":2,"score":0.3732999861240387},{"id":"https://openalex.org/C2776098176","wikidata":"https://www.wikidata.org/wiki/Q189389","display_name":"Aneurysm","level":2,"score":0.3700000047683716},{"id":"https://openalex.org/C2776864027","wikidata":"https://www.wikidata.org/wiki/Q615993","display_name":"Thoracic aorta","level":3,"score":0.3476000130176544},{"id":"https://openalex.org/C2781355080","wikidata":"https://www.wikidata.org/wiki/Q860167","display_name":"Bicuspid aortic valve","level":3,"score":0.33980000019073486},{"id":"https://openalex.org/C160022790","wikidata":"https://www.wikidata.org/wiki/Q2964004","display_name":"Cardiothoracic surgery","level":2,"score":0.33239999413490295},{"id":"https://openalex.org/C162317418","wikidata":"https://www.wikidata.org/wiki/Q252857","display_name":"Transcriptome","level":4,"score":0.328000009059906},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.3230000138282776},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3138999938964844},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.30959999561309814},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.2928999960422516},{"id":"https://openalex.org/C2781288737","wikidata":"https://www.wikidata.org/wiki/Q4677913","display_name":"Acute aortic syndrome","level":4,"score":0.2822999954223633},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.25450000166893005}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.64898/2026.09.16.26363254","doi":"https://doi.org/10.64898/2026.09.16.26363254","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.16.26363254","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2026/09/22/2026.09.16.26363254.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:13622307","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13622307/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13622307/pdf/nihpp-2026.09.16.26363254v1.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"medRxiv","raw_type":"Text"},{"id":"pmid:42818172","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42818172","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":"medRxiv : the preprint server for health sciences","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.64898/2026.09.16.26363254","doi":"https://doi.org/10.64898/2026.09.16.26363254","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.09.16.26363254","pdf_url":"https://www.medrxiv.org/content/medrxiv/early/2026/09/22/2026.09.16.26363254.full.pdf","source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G3002983259","display_name":"Genetic Predisposition To Thoracic Aortic Aneurysms/Dissections","funder_award_id":"R01HL109942","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"},{"id":"https://openalex.org/G9000861646","display_name":"University of Washington Mendelian Genomics Research Center (UW-MGRC)","funder_award_id":"U01HG011744","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000862182","display_name":"University of Washington (UW) Mendelian Genomics Data Coordinating Center","funder_award_id":"U24HG011746","funder_id":"https://openalex.org/F4320337348","funder_display_name":"National Human Genome Research Institute"},{"id":"https://openalex.org/G9000891309","display_name":"Institutional Clinical and Translational Science Award","funder_award_id":"UL1TR001878","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G9000911786","display_name":"Artificial Intelligence for Thoracic Aortic Disease Screening and Gene Discovery","funder_award_id":"K08HL173697","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320306127","display_name":"U.S. Department of Veterans Affairs","ror":"https://ror.org/05rsv9s98"},{"id":"https://openalex.org/F4320306230","display_name":"American Heart Association","ror":"https://ror.org/013kjyp64"},{"id":"https://openalex.org/F4320308349","display_name":"Massachusetts General Hospital","ror":"https://ror.org/002pd6e78"},{"id":"https://openalex.org/F4320309037","display_name":"Office of Research and Development","ror":"https://ror.org/05rsv9s98"},{"id":"https://openalex.org/F4320309370","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10"},{"id":"https://openalex.org/F4320309610","display_name":"Health Services Research and Development","ror":"https://ror.org/05rsv9s98"},{"id":"https://openalex.org/F4320316438","display_name":"Georgia Clinical and Translational Science Alliance","ror":"https://ror.org/034hw7m59"},{"id":"https://openalex.org/F4320316861","display_name":"University of Pennsylvania Health System","ror":"https://ror.org/04h81rw26"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320332608","display_name":"Perelman School of Medicine, University of Pennsylvania","ror":"https://ror.org/00b30xv10"},{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"},{"id":"https://openalex.org/F4320337348","display_name":"National Human Genome Research Institute","ror":"https://ror.org/00baak391"},{"id":"https://openalex.org/F4320337472","display_name":"National Center for Advancing Translational Sciences","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7214049618.pdf","grobid_xml":"https://content.openalex.org/works/W7214049618.grobid-xml"},"referenced_works_count":88,"referenced_works":["https://openalex.org/W1585895556","https://openalex.org/W1887437626","https://openalex.org/W1971078401","https://openalex.org/W1974374404","https://openalex.org/W1977348040","https://openalex.org/W1992025886","https://openalex.org/W2005871909","https://openalex.org/W2008016068","https://openalex.org/W2008586203","https://openalex.org/W2012478368","https://openalex.org/W2014318309","https://openalex.org/W2020427316","https://openalex.org/W2029387902","https://openalex.org/W2029641872","https://openalex.org/W2032714982","https://openalex.org/W2038136158","https://openalex.org/W2050418148","https://openalex.org/W2054351373","https://openalex.org/W2061164361","https://openalex.org/W2078129874","https://openalex.org/W2082704080","https://openalex.org/W2105824687","https://openalex.org/W2106578986","https://openalex.org/W2109887283","https://openalex.org/W2114232003","https://openalex.org/W2114688149","https://openalex.org/W2126930838","https://openalex.org/W2128111264","https://openalex.org/W2161701454","https://openalex.org/W2162377106","https://openalex.org/W2163953557","https://openalex.org/W2238998036","https://openalex.org/W2313594428","https://openalex.org/W2513628499","https://openalex.org/W2521967673","https://openalex.org/W2610273507","https://openalex.org/W2621716759","https://openalex.org/W2747135357","https://openalex.org/W2766437506","https://openalex.org/W2796274876","https://openalex.org/W2809581973","https://openalex.org/W2811346500","https://openalex.org/W2887657552","https://openalex.org/W2897970778","https://openalex.org/W2952138298","https://openalex.org/W2953151710","https://openalex.org/W2965487606","https://openalex.org/W2972480532","https://openalex.org/W3003130796","https://openalex.org/W3016248999","https://openalex.org/W3029661147","https://openalex.org/W3090295751","https://openalex.org/W3107322429","https://openalex.org/W3131055609","https://openalex.org/W3135319225","https://openalex.org/W3153120787","https://openalex.org/W3203240306","https://openalex.org/W4205844844","https://openalex.org/W4224014283","https://openalex.org/W4281296852","https://openalex.org/W4292253925","https://openalex.org/W4299802997","https://openalex.org/W4307934708","https://openalex.org/W4310375294","https://openalex.org/W4313331445","https://openalex.org/W4313594758","https://openalex.org/W4321457472","https://openalex.org/W4378212544","https://openalex.org/W4380366931","https://openalex.org/W4385638791","https://openalex.org/W4386861232","https://openalex.org/W4387330367","https://openalex.org/W4391925485","https://openalex.org/W4400933693","https://openalex.org/W4403779291","https://openalex.org/W4403873491","https://openalex.org/W4404535307","https://openalex.org/W4405420225","https://openalex.org/W4408225632","https://openalex.org/W4408727411","https://openalex.org/W4409210044","https://openalex.org/W4409764244","https://openalex.org/W4412950829","https://openalex.org/W4415321136","https://openalex.org/W4416402482","https://openalex.org/W7125138545","https://openalex.org/W7128799184","https://openalex.org/W7148365669"],"related_works":["https://openalex.org/W7212004799","https://openalex.org/W4403779291","https://openalex.org/W7204945799","https://openalex.org/W4400953212","https://openalex.org/W4400068152","https://openalex.org/W2794040920","https://openalex.org/W4403779126","https://openalex.org/W4404341323","https://openalex.org/W4380366931","https://openalex.org/W4386255501"],"abstract_inverted_index":{"Abstract":[0],"Background":[1],"Thoracic":[2],"aortic":[3,11,36,50,75,78,89,164,272,295],"aneurysms":[4],"enlarge":[5],"silently":[6],"and":[7,46,67,83,106,123,128,156,184,195,214,232,240,312],"can":[8],"cause":[9],"fatal":[10],"dissection":[12,239,270],"without":[13],"timely":[14],"surgical":[15,81,243],"repair,":[16,82],"underscoring":[17],"the":[18,103,115,176,200,301,314],"need":[19],"for":[20,238,325],"improved":[21],"approaches":[22],"to":[23,142,205],"identify":[24],"individuals":[25],"at":[26],"high":[27],"risk.":[28],"Rare":[29],"pathogenic":[30],"variants":[31,264],"in":[32,102,114,134,150,199,257,268,292],"established":[33,183],"heritable":[34],"thoracic":[35,49,77,88,163,294],"disease":[37,51],"(HTAD)":[38],"genes":[39,146,171,190,221,287,311],"explain":[40],"only":[41],"a":[42,95,258],"subset":[43],"of":[44,63,108,304,316],"familial":[45],"fewer":[47],"nonfamilial":[48],"(TAD)":[52],"cases.":[53],"Methods":[54],"We":[55],"performed":[56],"phenotype-stratified,":[57],"genome-wide,":[58],"gene-based":[59],"rare-variant":[60],"burden":[61,320],"analyses":[62,72,99,168,321],"ultrarare":[64],"damaging":[65],"missense":[66,252],"predicted":[68],"loss-of-function":[69],"variants.":[70,253],"Primary":[71],"focused":[73],"on":[74],"dissection,":[76],"aneurysm":[79,90],"requiring":[80,242],"their":[84],"combined":[85,133],"phenotype.":[86,97],"Broader":[87],"(TAA)":[91],"was":[92,255],"evaluated":[93,149],"as":[94],"secondary":[96],"Discovery":[98,127,167],"were":[100,131,147,224,236,248,265],"conducted":[101],"UK":[104],"Biobank":[105],"All":[107],"Us,":[109],"followed":[110],"by":[111,251,306],"independent":[112,192],"replication":[113,129,193],"Penn":[116],"Medicine":[117],"BioBank,":[118],"Mass":[119],"General":[120],"Brigham":[121],"Biobank,":[122],"Million":[124],"Veteran":[125],"Program.":[126],"results":[130],"subsequently":[132],"an":[135],"overall":[136,201],"fixed-effect,":[137],"inverse-variance-weighted":[138],"meta-analysis":[139,202],"across":[140,175,203,322],"up":[141,204],"five":[143,206],"biobanks.":[144],"Implicated":[145],"further":[148],"additional":[151,263],"clinically":[152],"ascertained":[153],"TAD":[154,178,305],"cohorts":[155],"using":[157],"single-cell":[158],"transcriptomic":[159],"data":[160],"from":[161],"human":[162,293],"tissue.":[165,296],"Results":[166],"identified":[169,266],"80":[170],"reaching":[172],"study-wide":[173,197],"significance":[174,198],"prespecified":[177],"phenotypes.":[179],"These":[180,298],"included":[181,209],"six":[182],"two":[185],"putative":[186],"HTAD":[187],"genes.":[188],"Fourteen":[189],"demonstrated":[191],"support":[194],"reached":[196],"biobanks,":[207],"which":[208],"more":[210],"than":[211],"10,000":[212],"cases":[213],"880,000":[215],"controls.":[216],"The":[217,285],"eight":[218,308],"novel":[219,246,309],"candidate":[220,310],"among":[222],"these":[223],"FNDC3B,":[225],"ROCK1,":[226],"URM1,":[227],"SLFN11,":[228],"ENPP1,":[229],"CLEC16A,":[230],"CREM,":[231],"VCAN":[233],".":[234],"Associations":[235],"strongest":[237],"TAA":[241],"repair.":[244],"Four":[245],"associations":[247],"driven":[249],"exclusively":[250],"FNDC3B":[254],"observed":[256],"family":[259],"with":[260],"HTAD,":[261],"while":[262],"primarily":[267],"sporadic":[269],"or":[271,279],"surgery":[273],"cohorts,":[274],"suggesting":[275],"that":[276],"other":[277],"genetic":[278,302],"physiologic":[280],"factors":[281],"may":[282],"influence":[283],"penetrance.":[284],"implicated":[286],"showed":[288],"cell-type-specific":[289],"expression":[290],"patterns":[291],"Conclusions":[297],"findings":[299],"expand":[300],"architecture":[303],"identifying":[307],"demonstrate":[313],"utility":[315],"phenotype-stratified":[317],"rare":[318],"variant":[319],"large":[323],"biobanks":[324],"gene":[326],"discovery.":[327]},"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2026-09-23T00:00:00"}
