Circulation: Genomic and Precision Medicine最新文献

{"title":"Long-Term Effects of Mavacamten on Patients Based on Hypertrophic Cardiomyopathy Pathogenic Genetic Variant Status: Insights From VALOR-HCM Trial.","authors":"Milind Y Desai, Anjali Owens, Sara Saberi, Andrew Wang, Kathy Wolski, Paul C Cremer, Neal K Lakdawala, Albree Tower-Rader, Mark Zenker, Mark Sherrid, Jeffrey B Geske, David Fermin, Srihari S Naidu, Kathy Lampl, Steven E Nissen","doi":"10.1161/CIRCGEN.125.005100","DOIUrl":"10.1161/CIRCGEN.125.005100","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e005100"},"PeriodicalIF":6.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic MicroRNA Signatures to Support Classification of Pulmonary Hypertension.","authors":"Niamh Errington, Li Zhou, Christopher J Rhodes, Yiu-Lian Fong, Lihan Zhou, Sokratis Kariotis, Eileen Harder, Aaron Waxman, Timothy Jatkoe, John Wharton, A A Roger Thompson, Robin A Condliffe, David G Kiely, Luke S Howard, Mark Toshner, Cheng He, Dennis Wang, Martin R Wilkins, Allan Lawrie","doi":"10.1161/CIRCGEN.124.004862","DOIUrl":"10.1161/CIRCGEN.124.004862","url":null,"abstract":"<p><strong>Background: </strong>Patients with pulmonary hypertension (PH) are classified based on disease pathogenesis and hemodynamic drivers. Classification informs treatment. The heart failure biomarker NT-proBNP (N-terminal pro-B-type natriuretic peptide) is used to help inform risk but is not specific to PH or sub-classification groups. There are currently no other biomarkers in clinical use to help guide diagnosis or risk.</p><p><strong>Methods: </strong>We profiled a retrospective cohort of 1150 patients from 3 expert centers with PH and 334 non-PH symptomatic controls (disease controls) from the United Kingdom to measure circulating levels of 650 microRNAs (miRNAs) in serum. NT-proBNP (ELISA) and 326 well-detected miRNAs (polymerase chain reaction) were prioritized by feature selection using multiple machine learning models. From the selected miRNAs, generalized linear models were used to describe miRNA signatures to differentiate PH and pulmonary arterial hypertension from the disease controls, and pulmonary arterial hypertension, PH due to left heart disease, PH due to lung disease, and chronic thromboembolic pulmonary hypertension from other forms of PH. These signatures were validated on a UK test cohort and independently validated in the prospective CIPHER study (A Prospective, Multicenter, Noninterventional Study for the Identification of Biomarker Signatures for the Early Detection of Pulmonary Hypertension) comprising 349 patients with PH and 93 disease controls.</p><p><strong>Results: </strong>NT-proBNP achieved a balanced accuracy of 0.74 and 0.75 at identifying PH and pulmonary arterial hypertension from disease controls with a threshold of 254 and 362 pg/mL, respectively but was unable to sub-categorize PH subgroups. In the UK cohort, miRNA signatures performed similarly to NT-proBNP in distinguishing PH (area under the curve of 0.7 versus 0.78), and pulmonary arterial hypertension (area under the curve of 0.73 versus 0.79) from disease controls. MicroRNA signatures outperformed NT-proBNP in distinguishing PH classification groups. External testing in the CIPHER cohort demonstrated that miRNA signatures, in conjunction with NT-proBNP, age, and sex, performed better than either NT-proBNP or miRNAs alone in sub-classifying PH.</p><p><strong>Conclusions: </strong>We suggest a threshold for NT-proBNP to identify patients with a high probability of PH, and the subsequent use of circulating miRNA signatures to help differentiate PH subgroups.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004862"},"PeriodicalIF":6.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12173163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clonal Hematopoiesis of Indeterminate Potential in Chronic Coronary Disease: A Report From the ISCHEMIA Trials Biorepository.","authors":"Matthew A Muller, Richard Liu, Farheen Shah, Jiyuan Hu, Claes Held, Iftikhar J Kullo, Bruce M McManus, Lars Wallentin, L Kristin Newby, Mandeep S Sidhu, Sripal Bangalore, Harmony R Reynolds, Judith S Hochman, David J Maron, Kelly V Ruggles, Jeffrey S Berger, Jonathan D Newman","doi":"10.1161/CIRCGEN.124.004921","DOIUrl":"10.1161/CIRCGEN.124.004921","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004921"},"PeriodicalIF":6.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Cardiometabolic Efficacy and Safety of Lipoprotein Lipase Pathway Targets in Combination With Approved Lipid-Lowering Targets: A Drug Target Mendelian Randomization Study.","authors":"Eloi Gagnon, Dipender Gill, Dominique Chabot, Héléne T Cronjé, Shuai Yuan, Stephen Brennan, Sébastien Thériault, Stephen Burgess, Benoit J Arsenault, Marie-Joe Dib","doi":"10.1161/CIRCGEN.124.004933","DOIUrl":"10.1161/CIRCGEN.124.004933","url":null,"abstract":"<p><strong>Background: </strong>Therapies targeting the LPL (lipoprotein lipase) pathway are under development for cardiometabolic disease. Insights into their efficacy-both alone and in combination with existing lipid-lowering therapies-modes of action, and safety of these agents are essential to inform clinical development. Using Mendelian randomization, we aimed to (1) evaluate efficacy, (2) explore shared mechanisms, (3) assess additive effects with approved lipid-lowering drugs, and (4) identify secondary indications and potential adverse effects.</p><p><strong>Methods: </strong>We selected triglyceride-lowering genetic variants located in the genes encoding ANGPTL3 (angiopoietin-like 3), ANGPTL4 (angiopoietin-like 4), APOC3 (apolipoprotein C3), and LPL and conducted drug target Mendelian randomization on primary outcomes including coronary artery disease and type 2 diabetes, and secondary outcomes, including apolipoprotein B, waist-to-hip ratio, body mass index, and 233 metabolic biomarkers. We conducted interaction Mendelian randomization analyses in 488 139 UK Biobank participants to test the effect of combination therapy targeting the LPL and LDLR (low-density lipoprotein receptor) pathways. Finally, we investigated potential secondary indications and adverse effects by leveraging genetic association data on 1204 disease end points.</p><p><strong>Results: </strong>Genetically predicted triglyceride lowering through the perturbation of LPL pathway activation targets ANGPTL4, APOC3, and LPL was associated with a lower risk of coronary artery disease and type 2 diabetes and lower apolipoprotein B. Genetically predicted triglyceride lowering through ANGPTL4 was associated with a lower waist-to-hip ratio, suggestive of a favorable body fat distribution. There was no evidence of a multiplicative interaction between genetically proxied perturbation of ANGPTL4, APOC3, and LPL and that of HMGCR (HMG-CoA reductase) and PCSK9 (proprotein convertase subtilisin/kexin type 9) on coronary artery disease and type 2 diabetes, consistent with additive effects. Finally, associations of genetically predicted LPL pathway targeting were supportive of the broad safety of these targets.</p><p><strong>Conclusions: </strong>Our findings provide genetic evidence supporting the efficacy and safety of LPL pathway activation therapies for the prevention of coronary artery disease and type 2 diabetes, alone or in combination with statins or PCSK9 inhibitors.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004933"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7617573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"On Penetrance Estimation in Family, Clinical, and Population Cohorts.","authors":"Marija Zaicenoka, Vasily E Ramensky, Anna V Kiseleva, Anna A Bukaeva, Anastasia V Blokhina, Alexandra I Ershova, Alexey N Meshkov, Oxana M Drapkina","doi":"10.1161/CIRCGEN.124.004816","DOIUrl":"10.1161/CIRCGEN.124.004816","url":null,"abstract":"<p><p>In recent years, there has been a considerable influx of publications assessing the penetrance of pathogenic variants associated with monogenic diseases with dominant inheritance. As large and diverse groups have been sequenced, it has become clear that incomplete penetrance is common to most hereditary diseases, as numerous molecular, genetic, or environmental factors can cause clinical diversity among the carriers of the same variant. In this review, we discuss some of these factors and focus on the existing approaches to estimating penetrance, depending on the data available and their application to different data sets. We also list some currently available large-scale data sets with penetrance estimates.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004816"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in <i>KCNH2</i>-Related LQTS.","authors":"Susan Clasper, Gunjan Trivedi, Kate L Thomson, Claire L S Turner, Smrithi Devaiah, Catherine L Mercer, Amnah Y Bdeir, Jumana Y Al-Aama, Khalid Dagriri, Alex R Hobson, Shankar N Sadagopan, Julian Ormerod, Eszter Szepesvary, Justin Phan, Diane Fatkin, Jamie I Vandenberg, Zahurul A Bhuiyan, Chai-Ann Ng","doi":"10.1161/CIRCGEN.124.004966","DOIUrl":"10.1161/CIRCGEN.124.004966","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004966"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699771","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dysmorphology-Based Prediction Model for Genetic Disorders in Infants With Congenital Heart Disease.","authors":"Benjamin M Helm, Leah Wetherill, Benjamin J Landis, Stephanie M Ware","doi":"10.1161/CIRCGEN.124.004895","DOIUrl":"10.1161/CIRCGEN.124.004895","url":null,"abstract":"<p><strong>Background: </strong>Genetic disorders are prevalent in patients with congenital heart disease (CHD), but genetic evaluations are underutilized and nonstandardized. We sought to quantify a dysmorphology score and develop phenotype-based prediction models for genetic diagnoses in CHD.</p><p><strong>Methods: </strong>We used a test-negative case-control study of inpatient infants (<1 year) with CHD undergoing standardized genetic evaluations. We quantified a novel dysmorphology score and combined it with other clinical variables used in multivariable logistic regression models to predict genetic diagnoses identified by genetic testing.</p><p><strong>Results: </strong>Of 1008 patients, 24.1% (243/1008) had genetic diagnoses identified. About half of the cohort were either nondysmorphic or mildly dysmorphic with dysmorphology scores ≤2. There were higher dysmorphology scores according to CHD class (<i>P</i>=0.0007), extracardiac anomaly-positive status (<i>P</i><0.0001), female sex (<i>P</i>=0.05), and genetic diagnosis identified (<i>P</i><0.0001). Multivariable logistic regression models quantified this effect further: each +1 increase in the dysmorphology score was associated with a 17% to 20% increased risk of genetic diagnoses (odds ratios, 1.17-1.20, <i>P</i><0.0001). Extracardiac anomaly-positive status remained a stronger predictor of genetic diagnoses (odds ratios, 2.81-3.39). Nonetheless, about 10% of the cohort were minimally dysmorphic (dysmorphology scores ≤2), had isolated CHD, and were found to have genetic diagnoses, indicating that dysmorphology-based screening can be used to risk-stratify but not exclude genetic diagnoses.</p><p><strong>Conclusions: </strong>The dysmorphology score is a novel screen for patients with CHD at high risk of having genetic diagnoses identified by genetic testing, including disorders not easily recognized by clinicians. We used these results to develop predicted probability plots for genetic diagnoses in patients with CHD.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004895"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11999770/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729034","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Alcohol Exposure Among Patients With Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study.","authors":"Javier Jimenez, Hanyu Ni, Stuart D Katz, Garrie J Haas, Jinwen Cao, Muni Rubens, Sandra Chaparro, Anshul Saxena, Mark Hofmeyer, Evan Kransdorf, Gregory A Ewald, Alanna A Morris, Anjali Owens, Brian Lowes, Douglas Stoller, W H Wilson Tang, Palak Shah, Jane E Wilcox, Frank Smart, Jessica Wang, Stephen S Gottlieb, Daniel P Judge, Jonathan O Mead, Natalie Hurst, Patricia K Parker, Gordon S Huggins, Elizabeth Jordan, Daniel D Kinnamon, Ray E Hershberger","doi":"10.1161/CIRCGEN.124.004946","DOIUrl":"10.1161/CIRCGEN.124.004946","url":null,"abstract":"<p><strong>Background: </strong>Whether prolonged and excessive alcohol consumption contributes to dilated cardiomyopathy (DCM) remains uncertain. This study aimed to describe the prevalence of alcohol use in patients with DCM and their first-degree relatives (FDRs) and determine if cumulative alcohol exposure associates with DCM/partial DCM or modifies the association of DCM with DCM-relevant rare variants.</p><p><strong>Methods: </strong>All probands had DCM; FDRs were classified as with or without DCM or partial DCM. Alcohol exposure was measured with the Alcohol Use Disorder Identification Test-Consumption questionnaire and years of drinking. Rare variants in 36 DCM genes were classified as pathogenic, likely pathogenic, or variants of uncertain significance (pathogenic, likely pathogenic, variant of uncertain significance). Generalized linear mixed models were used to assess the association of DCM/partial DCM with alcohol use among FDRs.</p><p><strong>Results: </strong>DCM/partial DCM was found in 21.8% of 1373 FDRs of 1148 DCM probands. The prevalence of former or current alcohol use was 68% for probands and 70% for FDRs. About 30% of probands and 37% of FDRs had positive Alcohol Use Disorder Identification Test-Consumption scores, indicating moderate or heavy drinking. Among FDRs, DCM/partial DCM was associated with the presence of pathogenic/likely pathogenic variants in DCM genes (odds ratio, 3.51 [95% CI, 2.33-5.29]) but not with alcohol exposure. Cumulative alcohol exposure was not found to modify the association between DCM/partial DCM and these variants (<i>P</i>=0.55).</p><p><strong>Conclusions: </strong>Alcohol use was frequent among probands and FDRs. This study did not provide evidence supporting an association of cumulative alcohol exposure with DCM/partial DCM or a modifying effect of alcohol use on the association of DCM with DCM-relevant rare variants.</p><p><strong>Registration: </strong>URL: https://www.clinicaltrials.gov; Unique identifier: NCT03037632.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004946"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12056839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA Damage Response and Repair Genes and Anthracycline-Induced Cardiomyopathy in Childhood Cancer Survivors: A Report From the Children's Oncology Group and the Childhood Cancer Survivor Study.","authors":"Xuexia Wang, Purnima Singh, Romina B Cejas, Liting Zhou, Noha Sharafeldin, Patrick J Trainor, Wendy Landier, Changde Cheng, Lindsey Hageman, Fan Wang, Yadav Sapkota, Yutaka Yasui, Melissa M Hudson, Eric J Chow, Saro H Armenian, Joseph P Neglia, Douglas S Hawkins, Jill P Ginsberg, Paul W Burridge, Gregory T Armstrong, Smita Bhatia","doi":"10.1161/CIRCGEN.124.004813","DOIUrl":"10.1161/CIRCGEN.124.004813","url":null,"abstract":"<p><strong>Background: </strong>Anthracyclines induce cardiotoxicity via DNA double-strand breaks and reactive oxygen species formation, resulting in cardiomyocyte dysfunction. The role of DNA damage response/repair (DDR) genes in anthracycline-induced cardiomyopathy remains unstudied.</p><p><strong>Methods: </strong>We conducted a gene-based and pathway-based analysis to examine the main effect and gene-anthracycline interaction effect between DDR genes and anthracycline-induced cardiomyopathy. A discovery analysis performed with a matched case-control set of anthracycline-exposed non-Hispanic White childhood cancer survivors from Children's Oncology Group-ALTE03N1 (113 cases; 226 controls) was replicated using a cohort of anthracycline-exposed non-Hispanic White childhood cancer survivors from the Childhood Cancer Survivor Study cohort (n=1658; 97 cases). Functional analyses were performed by examining the response to doxorubicin of human-induced pluripotent stem cell-derived cardiomyocytes with CRISPR/Cas9-mediated knockout of prioritized genes.</p><p><strong>Results: </strong>Successfully replicated DDR genes demonstrating main-effect association included <i>FANCC</i> (<i>P</i>=0.037) and <i>XRCC5</i> (<i>P</i>=0.001) and demonstrated gene-anthracycline interaction included <i>MGMT</i> (<i>P</i>=0.041). Knockouts of <i>FANCC</i> and <i>MGMT</i> in human-induced pluripotent stem cell-derived cardiomyocytes demonstrated significant resistance to doxorubicin, suggesting that these genes play a role in anthracycline-induced cardiotoxicity. Successfully replicated DDR pathways demonstrating main-effect association included base excision repair (<i>P</i>=2.7×10^-4); role of <i>BRCA1</i> in DDR (<i>P</i>=9.2×10^-5); p53 signaling (<i>P</i><1×10^-16); role of checkpoint kinases proteins in cell cycle checkpoint control (<i>P</i><1×10^-16); mismatch repair (<i>P</i><10^-16); and double-strand break repair by homologous recombination (<i>P</i><1×10^-16). Successfully replicated DDR pathways demonstrating significant interaction effects included role of <i>BRCA1</i> in DDR (<i>P</i>=1.4×10^-4); p53 signaling (<i>P<</i>1×10^-16); the role of checkpoint kinases proteins in cell cycle checkpoint control (<i>P</i><1×10^-16); mismatch repair (<i>P</i><1×10^-16); cell cycle: G2/M DNA damage checkpoint regulation (<i>P</i>=0.002); double-strand break repair by homologous recombination (<i>P</i>=0.009); <i>GADD45</i> signaling (<i>P</i>=4.8×10^-4); and cell cycle control of chromosomal replication (<i>P</i>=4.5×10^-4).</p><p><strong>Conclusions: </strong>These findings provide evidence for the role of DDR genes and pathways in anthracycline-induced cardiomyopathy and provide a framework for targeted therapeutic interventions.</p>","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e004813"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11999796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143729031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Many Journeys Originating at the Same Source to Arrive at Solutions to the Common Problem of High Lipoprotein(a).","authors":"Jean Woody Luxama, Joshua W Knowles","doi":"10.1161/CIRCGEN.125.005126","DOIUrl":"10.1161/CIRCGEN.125.005126","url":null,"abstract":"","PeriodicalId":10326,"journal":{"name":"Circulation: Genomic and Precision Medicine","volume":" ","pages":"e005126"},"PeriodicalIF":6.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11999797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143699772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}