{"id":"https://openalex.org/W7225137754","doi":"https://doi.org/10.1161/circgen.126.005760","title":"Investigating the Distinctive Clinical and Genetic Landscape of PPA2 Deficiency","display_name":"Investigating the Distinctive Clinical and Genetic Landscape of PPA2 Deficiency","publication_year":2026,"publication_date":"2026-11-03","ids":{"openalex":"https://openalex.org/W7225137754","doi":"https://doi.org/10.1161/circgen.126.005760","pmid":"https://pubmed.ncbi.nlm.nih.gov/42974706"},"language":"en","primary_location":{"id":"doi:10.1161/circgen.126.005760","doi":"https://doi.org/10.1161/circgen.126.005760","is_oa":false,"landing_page_url":"https://doi.org/10.1161/circgen.126.005760","pdf_url":null,"source":{"id":"https://openalex.org/S4210202128","display_name":"Circulation Genomic and Precision Medicine","issn_l":"2574-8300","issn":["2574-8300"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation: Genomic and Precision Medicine","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5077296848","display_name":"Huang Shu","orcid":"https://orcid.org/0000-0002-4448-5850","observed_orcids":["https://orcid.org/0000-0002-4448-5850"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Brandon Shu Huang Low","raw_affiliation_strings":["Department of Physiology, Anatomy and Genetics, University of Oxford, United Kingdom (B.S.H.L.)"],"raw_orcid":"https://orcid.org/0000-0002-4448-5850","affiliations":[{"raw_affiliation_string":"Department of Physiology, Anatomy and Genetics, University of Oxford, United Kingdom (B.S.H.L.)","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5119827189","display_name":"Marre E. Corver","orcid":"https://orcid.org/0009-0007-6195-2186","observed_orcids":["https://orcid.org/0009-0007-6195-2186"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4405257531","display_name":"Amsterdam Cardiovascular Sciences","ror":"https://ror.org/05c9qnd49","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4405257531"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Marre E. Corver","raw_affiliation_strings":["Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)"],"raw_orcid":"https://orcid.org/0009-0007-6195-2186","affiliations":[{"raw_affiliation_string":"Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I4405257531","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005491778","display_name":"Alex Lipov","orcid":"https://orcid.org/0000-0001-8061-2063","observed_orcids":["https://orcid.org/0000-0001-8061-2063"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4405257531","display_name":"Amsterdam Cardiovascular Sciences","ror":"https://ror.org/05c9qnd49","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4405257531"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Alex Lipov","raw_affiliation_strings":["Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)"],"raw_orcid":"https://orcid.org/0000-0001-8061-2063","affiliations":[{"raw_affiliation_string":"Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I4405257531","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160450415","display_name":"Jonny P.R. Wardle","orcid":"https://orcid.org/0009-0006-6940-9375","observed_orcids":["https://orcid.org/0009-0006-6940-9375"]},"institutions":[{"id":"https://openalex.org/I4401726869","display_name":"City St George's, University of London","ror":"https://ror.org/047ybhc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4401726869"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jonny P.R. Wardle","raw_affiliation_strings":["Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)"],"raw_orcid":"https://orcid.org/0009-0006-6940-9375","affiliations":[{"raw_affiliation_string":"Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)","institution_ids":["https://openalex.org/I4401726869"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076368396","display_name":"Francesco Mazzarotto","orcid":"https://orcid.org/0000-0002-6159-9980","observed_orcids":["https://orcid.org/0000-0002-6159-9980"]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]},{"id":"https://openalex.org/I79940851","display_name":"University of Brescia","ror":"https://ror.org/02q2d2610","country_code":"IT","type":"education","lineage":["https://openalex.org/I79940851"]}],"countries":["GB","IT"],"is_corresponding":false,"raw_author_name":"Francesco Mazzarotto","raw_affiliation_strings":["Department of Molecular and Translational Medicine, University of Brescia, Italy (F.M.)","National Heart and Lung Institute, Imperial College London (F.M.)"],"raw_orcid":"https://orcid.org/0000-0002-6159-9980","affiliations":[{"raw_affiliation_string":"Department of Molecular and Translational Medicine, University of Brescia, Italy (F.M.)","institution_ids":["https://openalex.org/I79940851"]},{"raw_affiliation_string":"National Heart and Lung Institute, Imperial College London (F.M.)","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016023161","display_name":"Connie R. Bezzina","orcid":"https://orcid.org/0000-0002-0633-3514","observed_orcids":["https://orcid.org/0000-0002-0633-3514"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4405257531","display_name":"Amsterdam Cardiovascular Sciences","ror":"https://ror.org/05c9qnd49","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4405257531"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Connie R. Bezzina","raw_affiliation_strings":["Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)"],"raw_orcid":"https://orcid.org/0000-0002-0633-3514","affiliations":[{"raw_affiliation_string":"Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I4405257531","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011046385","display_name":"Elijah Raphael Behr","orcid":"https://orcid.org/0000-0002-8731-2853","observed_orcids":["https://orcid.org/0000-0002-8731-2853"]},"institutions":[{"id":"https://openalex.org/I2801196673","display_name":"St George\u2019s University Hospitals NHS Foundation Trust","ror":"https://ror.org/039zedc16","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801196673"]},{"id":"https://openalex.org/I4401726869","display_name":"City St George's, University of London","ror":"https://ror.org/047ybhc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4401726869"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Elijah R. Behr","raw_affiliation_strings":["Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)","St George\u2019s University Hospitals NHS Foundation Trust, London, United Kingdom (E.R.B.)"],"raw_orcid":"https://orcid.org/0000-0002-8731-2853","affiliations":[{"raw_affiliation_string":"Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)","institution_ids":["https://openalex.org/I4401726869"]},{"raw_affiliation_string":"St George\u2019s University Hospitals NHS Foundation Trust, London, United Kingdom (E.R.B.)","institution_ids":["https://openalex.org/I2801196673"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084721457","display_name":"Sean Joseph Jurgens","orcid":"https://orcid.org/0000-0002-1605-9782","observed_orcids":["https://orcid.org/0000-0002-1605-9782"]},"institutions":[{"id":"https://openalex.org/I4210151833","display_name":"Amsterdam University Medical Centers","ror":"https://ror.org/05grdyy37","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4210151833"]},{"id":"https://openalex.org/I4405257531","display_name":"Amsterdam Cardiovascular Sciences","ror":"https://ror.org/05c9qnd49","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I4405257531"]},{"id":"https://openalex.org/I887064364","display_name":"University of Amsterdam","ror":"https://ror.org/04dkp9463","country_code":"NL","type":"education","lineage":["https://openalex.org/I887064364"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Sean J. Jurgens","raw_affiliation_strings":["Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)"],"raw_orcid":"https://orcid.org/0000-0002-1605-9782","affiliations":[{"raw_affiliation_string":"Department of Experimental Cardiology, Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam University Medical Centers, University of Amsterdam, Netherlands (M.E.C., A.L., C.R.B., S.J.J.)","institution_ids":["https://openalex.org/I4210151833","https://openalex.org/I4405257531","https://openalex.org/I887064364"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013259071","display_name":"Christopher J. Carroll","orcid":"https://orcid.org/0000-0002-2814-6955","observed_orcids":["https://orcid.org/0000-0002-2814-6955"]},"institutions":[{"id":"https://openalex.org/I4401726869","display_name":"City St George's, University of London","ror":"https://ror.org/047ybhc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4401726869"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Christopher J. Carroll","raw_affiliation_strings":["Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)","institution_ids":["https://openalex.org/I4401726869"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050761148","display_name":"Roddy Walsh","orcid":"https://orcid.org/0000-0001-5092-8825","observed_orcids":["https://orcid.org/0000-0001-5092-8825"]},"institutions":[{"id":"https://openalex.org/I4401726869","display_name":"City St George's, University of London","ror":"https://ror.org/047ybhc09","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I4401726869"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Roddy Walsh","raw_affiliation_strings":["Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)"],"raw_orcid":"https://orcid.org/0000-0001-5092-8825","affiliations":[{"raw_affiliation_string":"Cardiovascular Research Institute, School of Health and Medical Sciences, City St. George\u2019s, University of London, United Kingdom (J.P.R.W., E.R.B., C.J.C., R.W.)","institution_ids":["https://openalex.org/I4401726869"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":8,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":"e005760","last_page":"e005760"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.392300009727478,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.392300009727478,"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/T10217","display_name":"Cardiac electrophysiology and arrhythmias","score":0.20730000734329224,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.1720000058412552,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.734000027179718},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8980000019073486},{"id":"https://openalex.org/keywords/arrhythmogenic-cardiomyopathy","display_name":"arrhythmogenic cardiomyopathy","score":0.9100000262260437},{"id":"https://openalex.org/keywords/sudden-cardiac-death","display_name":"sudden cardiac death","score":0.9649999737739563},{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.906000018119812},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8569999933242798},{"id":"https://openalex.org/keywords/hypomorphic-variants","display_name":"hypomorphic variants","score":0.6639999747276306},{"id":"https://openalex.org/keywords/mitohormesis","display_name":"mitohormesis","score":0.9190000295639038},{"id":"https://openalex.org/keywords/disease-prevalence","display_name":"disease prevalence","score":0.7599999904632568},{"id":"https://openalex.org/keywords/mitochondrial-enzyme-deficiency","display_name":"mitochondrial enzyme deficiency","score":0.49799999594688416}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6029999852180481},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5634999871253967},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5198000073432922},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.5001999735832214},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.45829999446868896},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4465999901294708},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.4332999885082245},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.4108000099658966},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4099000096321106},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.40119999647140503},{"id":"https://openalex.org/C2775935837","wikidata":"https://www.wikidata.org/wiki/Q202837","display_name":"Sudden cardiac death","level":2,"score":0.3993000090122223},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.3937000036239624},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.3903000056743622},{"id":"https://openalex.org/C2993353509","wikidata":"https://www.wikidata.org/wiki/Q411867","display_name":"Sudden death","level":2,"score":0.38260000944137573},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.375900000333786},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.35179999470710754},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.3472000062465668},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.34450000524520874},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.3391000032424927},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.31850001215934753},{"id":"https://openalex.org/C161078062","wikidata":"https://www.wikidata.org/wiki/Q1068690","display_name":"Functional genomics","level":5,"score":0.3010999858379364},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.28859999775886536},{"id":"https://openalex.org/C2777892804","wikidata":"https://www.wikidata.org/wiki/Q2555727","display_name":"Arrhythmogenic right ventricular dysplasia","level":4,"score":0.2863999903202057},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.275299996137619},{"id":"https://openalex.org/C105176652","wikidata":"https://www.wikidata.org/wiki/Q1147112","display_name":"Comparative genomics","level":5,"score":0.2736999988555908},{"id":"https://openalex.org/C29374701","wikidata":"https://www.wikidata.org/wiki/Q1931388","display_name":"Cause of death","level":3,"score":0.26809999346733093}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1161/circgen.126.005760","doi":"https://doi.org/10.1161/circgen.126.005760","is_oa":false,"landing_page_url":"https://doi.org/10.1161/circgen.126.005760","pdf_url":null,"source":{"id":"https://openalex.org/S4210202128","display_name":"Circulation Genomic and Precision Medicine","issn_l":"2574-8300","issn":["2574-8300"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-20","russia-white-list-1"],"host_organization":"https://openalex.org/P4310318547","host_organization_name":"Wolters Kluwer","host_organization_lineage":["https://openalex.org/P4310318547"],"host_organization_lineage_names":["Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Circulation: Genomic and Precision Medicine","raw_type":"journal-article"},{"id":"pmid:42974706","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42974706","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":"Circulation. Genomic and precision medicine","raw_type":"Journal Article"},{"id":"pmh:oai:iris.unibs.it:11379/656145","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/11379/656145","pdf_url":null,"source":{"id":"https://openalex.org/S4306400804","display_name":"Institutional Research Information System (Universit\u00e0 degli Studi di Brescia)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I66752286","host_organization_name":"University of Milano-Bicocca","host_organization_lineage":["https://openalex.org/I66752286"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W2051978340","https://openalex.org/W2148403822","https://openalex.org/W2156618791","https://openalex.org/W2417483443","https://openalex.org/W2514744505","https://openalex.org/W2517353926","https://openalex.org/W2898679697","https://openalex.org/W2909194804","https://openalex.org/W2952445740","https://openalex.org/W2987822827","https://openalex.org/W3029661147","https://openalex.org/W3045929934","https://openalex.org/W3082900041","https://openalex.org/W3092246970","https://openalex.org/W3142197808","https://openalex.org/W3162800482","https://openalex.org/W3195316810","https://openalex.org/W4285590411","https://openalex.org/W4293217392","https://openalex.org/W4305082745","https://openalex.org/W4307617206","https://openalex.org/W4376279139","https://openalex.org/W4378746792","https://openalex.org/W4379260778","https://openalex.org/W4386861232","https://openalex.org/W4386905358","https://openalex.org/W4387451895","https://openalex.org/W4393853303","https://openalex.org/W4393951349","https://openalex.org/W4403729230","https://openalex.org/W4406916844","https://openalex.org/W4408278568","https://openalex.org/W4410402376","https://openalex.org/W4412345389","https://openalex.org/W4412650323","https://openalex.org/W4414084811","https://openalex.org/W4414623418","https://openalex.org/W7118251413","https://openalex.org/W7160242268"],"related_works":["https://openalex.org/W3195316810","https://openalex.org/W7222982099","https://openalex.org/W7202259811","https://openalex.org/W4386905358","https://openalex.org/W4414483621","https://openalex.org/W7133726425","https://openalex.org/W4393951349","https://openalex.org/W2514744505","https://openalex.org/W7139101035","https://openalex.org/W2987822827"],"abstract_inverted_index":{"BACKGROUND:":[0],"PPA2":[1,20,191,256,273],"encodes":[2],"for":[3,269],"inorganic":[4,12],"pyrophosphatase":[5],"2,":[6],"a":[7,62,128,199,259],"mitochondrial":[8],"enzyme":[9],"that":[10,27],"hydrolyzes":[11],"pyrophosphates":[13],"into":[14],"orthophosphate.":[15],"Biallelic":[16],"loss-of-function":[17,201],"variants":[18,60,167,197,209],"cause":[19],"deficiency,":[21],"an":[22,232,243],"emerging":[23,278],"recessive":[24],"cardiac":[25,33,157],"condition":[26],"causes":[28],"heart":[29,145,238],"failure":[30],"and":[31,37,45,53,69,83,116,147,213,262],"sudden":[32,156],"death":[34],"in":[35,87,137,148,178,210,251,277],"infants":[36],"young":[38],"people.":[39],"METHODS:":[40],"Using":[41],"published":[42],"case":[43],"reports":[44],"large-scale":[46],"genomics":[47],"resources,":[48],"we":[49],"defined":[50],"the":[51,79,88,267],"clinical":[52,114],"molecular":[54],"spectrum":[55,219],"of":[56,66,94,108,123,170,220,227,246],"this":[57,109],"disease,":[58],"classified":[59,173],"using":[61,78],"customized":[63],"American":[64],"College":[65],"Medical":[67],"Genetics":[68],"Genomics":[70],"pipeline,":[71],"assessed":[72],"genotype-phenotype":[73],"correlations,":[74],"calculated":[75],"predicted":[76],"prevalence":[77,245],"gnomAD":[80],"GenIE":[81],"tool,":[82],"investigated":[84],"monoallelic":[85,225],"associations":[86],"UK":[89],"Biobank.":[90],"RESULTS:":[91],"A":[92],"total":[93],"63":[95],"cases":[96],"from":[97,102,237],"37":[98],"families":[99],"were":[100,172],"identified":[101],"12":[103],"publications.":[104],"The":[105,159,218,240],"natural":[106],"history":[107],"disease":[110,160,241],"is":[111,161,193,258],"characterized":[112],"by":[113,120,195,206],"heterogeneity":[115],"high":[117],"mortality":[118],"(79%":[119],"20":[121],"years":[122],"age),":[124],"typically":[125],"presenting":[126],"as":[127,174],"highly":[129],"arrhythmogenic":[130],"cardiomyopathy":[131],"with":[132,164,189,203],"2":[133],"distinct":[134,166],"risk":[135],"periods:":[136],"infancy,":[138],"where":[139,150],"viral":[140],"infections":[141],"can":[142,154],"lead":[143],"to":[144,186,224],"failure,":[146],"adolescence,":[149],"minimal":[151],"alcohol":[152],"exposure":[153],"trigger":[155],"death.":[158],"genetically":[162,260],"heterogeneous,":[163],"29":[165],"described":[168],"(18":[169],"which":[171,230],"[likely]":[175],"pathogenic),":[176],"usually":[177],"compound":[179,215],"heterozygosity.":[180],"As":[181],"complete":[182],"gene":[183],"knockout":[184],"appears":[185],"be":[187],"incompatible":[188],"life,":[190],"deficiency":[192,204,257],"caused":[194],"biallelic":[196],"within":[198],"particular":[200,214],"window,":[202],"mitigated":[205],"hypomorphic":[207],"effects,":[208],"nonconstitutive":[211],"exons,":[212],"heterozygous":[216],"combinations.":[217],"phenotypic":[221],"effect":[222],"extends":[223],"carriers":[226],"pathogenic":[228],"variants,":[229],"demonstrate":[231],"apparent":[233],"mitohormesis-like":[234],"compensatory":[235],"protection":[236],"failure.":[239],"has":[242],"estimated":[244],"at":[247],"least":[248],"1/135":[249],"000":[250],"European":[252],"ancestry":[253],"populations.":[254],"CONCLUSIONS:":[255],"complex":[261],"clinically":[263],"severe":[264],"disease.":[265],"Given":[266],"potential":[268],"effective":[270],"life-saving":[271],"interventions,":[272],"may":[274],"warrant":[275],"inclusion":[276],"newborn":[279],"genomic":[280],"screening":[281],"programs.":[282]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2026-11-04T00:00:00"}
