Genetics in Medicine最新文献

{"title":"Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.","authors":"Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau, Alicia B Byrne, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Anne O'Donnell-Luria, Leslie G Biesecker, Predrag Radivojac, Steven E Brenner, Vikas Pejaver","doi":"10.1016/j.gim.2025.101402","DOIUrl":"10.1016/j.gim.2025.101402","url":null,"abstract":"<p><strong>Purpose: </strong>We previously developed an approach to calibrate computational tools for clinical variant classification, updating recommendations for the reliable use of variant impact predictors to provide evidence strength up to Strong. A new generation of tools using distinctive approaches has since been released, and these methods must be independently calibrated for clinical application.</p><p><strong>Method: </strong>Using our local posterior probability-based calibration and our established data set of ClinVar pathogenic and benign variants, we determined the strength of evidence provided by three new tools (AlphaMissense, ESM1b, VARITY) and calibrated scores meeting each evidence strength.</p><p><strong>Results: </strong>All three tools reached the Strong level of evidence for variant pathogenicity and Moderate for benignity, though sometimes for few variants. Compared to previously recommended tools, these yielded at best only modest improvements in the tradeoffs of evidence strength and false positive predictions.</p><p><strong>Conclusion: </strong>At calibrated thresholds, three new computational predictors provided evidence for variant pathogenicity at similar strength to the four previously recommended predictors (and comparable with functional assays for some variants). This calibration broadens the scope of computational tools for application in clinical variant classification. Their new approaches offer promise for future advancement of the field.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101402"},"PeriodicalIF":6.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.","authors":"Miriam Ehrenberg, Maayan Avraham, Sandeep Sarma Asodu, Abigail R Moye, Riccardo Sangermano, Leah Rizel, Tahleel Ali-Nasser, Ifat Sher, David Gurwitz, Katherine R Chao, Antonio Rivera, Andrew R Webster, Carlo Rivolta, Hadas Newman, Eran Pras, Ygal Rotenstreich, Eyal Banin, Eric A Pierce, Dinah Zur, Gavin Arno, Kinga M Bujakowska, Siying Lin, Dror Sharon, Tamar Ben-Yosef","doi":"10.1016/j.gim.2025.101401","DOIUrl":"10.1016/j.gim.2025.101401","url":null,"abstract":"<p><strong>Purpose: </strong>To identify the genetic cause for disease in individuals affected with inherited retinal disease (IRD), to characterize their retinal phenotype and the properties of the underlying gene.</p><p><strong>Methods: </strong>Participants underwent a comprehensive ophthalmological evaluation, including best-corrected visual acuity, visual field testing, fundus autofluorescence, optical coherence tomography and electroretinography. Genetic analyses included exome, genome and Sanger sequencing. Gene expression pattern was analyzed by reverse transcription-PCR. Localization of the encoded protein in cells and in the human retina was examined by immunofluorescence staining.</p><p><strong>Results: </strong>Four different pathogenic variants in C19orf44 were identified in 15 biallelic individuals from 11 unrelated families. The most common variant was c.549_550del p.(Ser185ProfsTer2). Most individuals were affected with a unique clinical phenotype characterized by late onset patchy perifoveal chorioretinal atrophy and electroretinographic features of rod-cone degeneration. C19orf44 is expressed in various human tissues, including the retina, where it was found in the outer nuclear layer and in the outer plexiform layer. In cultured cells (hTERT RPE-1 and HeLa) and in human primary fibroblasts C19orf44 is found in the nucleus, and it is down-regulated during mitosis.</p><p><strong>Conclusion: </strong>Based on our results, C19orf44 is crucial for normal human retinal function and pathogenic variants in this gene are associated with autosomal recessive IRD.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101401"},"PeriodicalIF":6.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long Term Follow Up of Children Who Received Rapid Genomic Sequencing.","authors":"Erica Sanford Kobayashi, Laura E Tobin, Madison Arenchild, Wendy Benson, Nicole G Coufal, Edwin F Juarez, Stephen F Kingsmore, Jason Knight, Jerica Lenberg, Adam Schwarz, Ofelia Vargas-Shiraishi, Kristen Wigby, Matthew Bainbridge","doi":"10.1016/j.gim.2025.101403","DOIUrl":"https://doi.org/10.1016/j.gim.2025.101403","url":null,"abstract":"<p><strong>Purpose: </strong>To explore long-term trajectories of children who received rapid genome sequencing (RGS) in intensive care settings.</p><p><strong>Methods: </strong>We examined the electronic health records (EHR) of 67 critically ill pediatric patients who received RGS six to eight years ago with a collective initial diagnostic yield of 46%.</p><p><strong>Results: </strong>The median length of follow up was 6.2 years (IQR 4.0-7.2 years). RGS-diagnosed patients had a longer average follow-up time compared to undiagnosed patients (5.9 years vs 4.8 years, p = 0.026) and more subspecialty appointments per follow-up year (9.4 vs 6.9, p = 0.036). Mortality during the follow-up period was 9%. Patients averaged 2.1 hospital readmissions per follow-up year and 28.1 hospitalized days per follow-up year. Forty-four patients (66%) had a documented new phenotype in the EHR during their follow-up period. Seven patients received clinician-driven re-analysis during the follow-up period, yielding one new diagnosis. Systematic reanalysis of RGS performed as part of this study identified four new candidate diagnoses.</p><p><strong>Conclusion: </strong>Pediatric patients who receive RGS during intensive care unit hospitalizations continue to be high healthcare utilizers in subsequent years, regardless of whether RGS identified a diagnosis. Additionally, two-thirds of this cohort had a documented phenotypic change over the follow-up period, indicating dynamic clinical evolution in the years following RGS.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101403"},"PeriodicalIF":6.6,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Addendum: Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)","authors":"Ting Wen,&nbsp;M. Katharine Rudd,&nbsp;Melanie A. Manning,&nbsp;ACMG Professional Practice and Guidelines Committee","doi":"10.1016/j.gim.2024.101335","DOIUrl":"10.1016/j.gim.2024.101335","url":null,"abstract":"<div><div>This document was reaffirmed by the ACMG Board of Directors as of 26 August 2024 with the following addendum:</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 3","pages":"Article 101335"},"PeriodicalIF":6.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143548410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correspondence on “Weighty matters: Considering the ethics of genetic risk scores for obesity” by C. Houtz","authors":"John J. Connolly ,&nbsp;Molly Hess ,&nbsp;Priyanka Maripuri ,&nbsp;Shannon Terek ,&nbsp;Jasmine Purcell ,&nbsp;Margaret H. Harr ,&nbsp;Frank D. Mentch ,&nbsp;Joseph T. Glessner ,&nbsp;Rachana Shah ,&nbsp;Cindy A. Prows ,&nbsp;Dean J. Karavite ,&nbsp;Jeritt G. Thayer ,&nbsp;Robert W. Grundmeier ,&nbsp;Hakon Hakonarson ,&nbsp;eMERGE Network","doi":"10.1016/j.gim.2024.101324","DOIUrl":"10.1016/j.gim.2024.101324","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 3","pages":"Article 101324"},"PeriodicalIF":6.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level","authors":"Gwendolyn Bennett ,&nbsp;Izabela Karbassi ,&nbsp;Wenjie Chen ,&nbsp;Steven M. Harrison ,&nbsp;Matthew S. Lebo ,&nbsp;Linyan Meng ,&nbsp;Narasimhan Nagan ,&nbsp;Robert Rigobello ,&nbsp;Heidi L. Rehm","doi":"10.1016/j.gim.2025.101400","DOIUrl":"10.1016/j.gim.2025.101400","url":null,"abstract":"<div><h3>Purpose</h3><div>Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. Although all VUS hold uncertainty, some VUS have more evidence in support of pathogenicity, whereas others have more evidence of a benign role. Sharing these nuances can help guide the investment in follow-up clinical and research investigations and may, at times, influence medical decision making despite appreciated uncertainty.</div></div><div><h3>Methods</h3><div>Four clinical laboratories have been subclassifying VUS to help prioritize investigation and guide reporting decisions. Each laboratory developed a distinct approach for how these subclasses are used in their laboratories and, in some cases, displayed on reports. We examined the composition of each laboratory’s VUS subclasses and the likelihood variants from each subclass were reclassified toward pathogenic or benign.</div></div><div><h3>Results</h3><div>We found that variants in the lowest subclass of VUS were never reclassified as likely pathogenic or pathogenic, whereas those in the highest subclass were much more likely to be reclassified as pathogenic or likely pathogenic.</div></div><div><h3>Conclusion</h3><div>Given that forthcoming professional guidance in variant classification will advise the use of VUS subclasses, the experience of our laboratories in using VUS subclasses can inform future practices.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 6","pages":"Article 101400"},"PeriodicalIF":6.6,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy","authors":"Jonathan De Winter ,&nbsp;Liedewei Van de Vondel ,&nbsp;Biljana Ermanoska ,&nbsp;Alice Monticelli ,&nbsp;Arnaud Isapof ,&nbsp;Enzo Cohen ,&nbsp;Tanya Stojkovic ,&nbsp;Peter Hackman ,&nbsp;Mridul Johari ,&nbsp;Johanna Palmio ,&nbsp;Megan A. Waldrop ,&nbsp;Alayne P. Meyer ,&nbsp;Stefan Nicolau ,&nbsp;Kevin M. Flanigan ,&nbsp;Ana Töpf ,&nbsp;Jordi Diaz-Manera ,&nbsp;Volker Straub ,&nbsp;Cheryl Longman ,&nbsp;Catherine A. McWilliam ,&nbsp;Rotem Orbach ,&nbsp;Jonathan Baets","doi":"10.1016/j.gim.2025.101399","DOIUrl":"10.1016/j.gim.2025.101399","url":null,"abstract":"<div><h3>Purpose</h3><div>Heterozygous pathogenic variants in <em>SPTAN1</em> cause a diverse spectrum of neurogenetic disorders ranging from peripheral and central nervous system involvement to complex syndromic presentations. We set out to investigate the role of <em>SPTAN1</em> in genetically unsolved hereditary myopathies.</div></div><div><h3>Methods</h3><div>Through international collaboration we identified 14 families with distal weakness and heterozygous <em>SPTAN1</em> loss-of-function variants. Clinical data, electrophysiology, muscle computed tomography or magnetic resonance imaging, and muscle biopsy findings were collected and standardized. <em>SPTAN1</em> protein, messenger RNA expression analysis and copy DNA sequencing was performed on muscle tissue from 2 participants.</div></div><div><h3>Results</h3><div>Five families showed autosomal dominant mode of inheritance, whereas in 9 patients the variant was shown to be de novo, including 2 pairs of monozygotic twins. In 2 families, further segregation analysis was not possible. All affected participants presented with early childhood-onset distal weakness and foot abnormalities. Muscle magnetic resonance imaging or computed tomography in 10 patients showed fatty infiltration of the distal lower limb anterior compartment and/or selective involvement of the extensor hallucis longus muscle. Muscle biopsy revealed myopathic changes in 7 patients. Finally, we provide proof for nonsense-mediated decay in muscle tissue derived from 2 patients.</div></div><div><h3>Conclusion</h3><div>We present evidence linking heterozygous <em>SPTAN1</em> loss-of-function variants to childhood-onset distal myopathy in 14 unrelated families.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 6","pages":"Article 101399"},"PeriodicalIF":6.6,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases","authors":"Rajshree Pandey ,&nbsp;Noemi Fluetsch Brennan ,&nbsp;Kalliopi Trachana ,&nbsp;Sarah Katsandres ,&nbsp;Olaf Bodamer ,&nbsp;John Belmont ,&nbsp;David L. Veenstra ,&nbsp;Siyang Peng","doi":"10.1016/j.gim.2025.101398","DOIUrl":"10.1016/j.gim.2025.101398","url":null,"abstract":"<div><h3>Purpose</h3><div>To systematically evaluate the diagnostic yield and clinical utility of genome sequencing (GS) and exome sequencing (ES; genome-wide sequencing [GWS]) in pediatric patients with rare and undiagnosed genetic diseases.</div></div><div><h3>Methods</h3><div>We conducted a meta-analysis of studies published between 2011 and 2023. To address study heterogeneity, comparative analyses included within-cohort studies using random-effects models.</div></div><div><h3>Results</h3><div>We identified 108 studies including 24,631 probands with diverse clinical indications. The pooled diagnostic yield among within-cohort studies (<em>N</em> = 13) for GWS was 34.2% (95% CI: 27.6-41.5; <em>I</em>^<em>2</em>: 86%) vs 18.1% (95% CI: 13.1-24.6; <em>I</em>^<em>2</em>: 89%) for non-GWS, with 2.4-times odds of diagnosis (95% CI: 1.40-4.04; <em>P</em> &lt; .05). The pooled diagnostic yield among within-cohort studies (<em>N</em> = 3) for GS was 30.6% (95% CI: 18.6-45.9; <em>I</em>^<em>2</em>: 79%) vs 23.2% (95% CI: 18.5-28.7; <em>I</em>^<em>2</em>: 58%) for ES, with 1.7-times the odds of diagnosis (95% CI: 0.94-2.92; <em>P</em> = .13). In first-line testing, the diagnostic yield tended to be higher for GS than for ES across clinical subgroups. The pooled clinical utility among patients with a positive diagnosis was 58.7% (95% CI: 47.3-69.2; <em>I</em>²: 81%) for GS and 54.5% (95% CI: 40.7-67.6; <em>I</em> ²: 87%) for ES.</div></div><div><h3>Conclusion</h3><div>GS appears to have a higher diagnostic yield than ES, with similar clinical utility per positive diagnosis.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 6","pages":"Article 101398"},"PeriodicalIF":6.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing Gene Panels for Equitable Reproductive Carrier Screening: the \"Goldilocks\" Approach.","authors":"Mia J Gruzin, Matthew Hobbs, Rachel E Ellsworth, Sarah Poll, Sienna Aguilar, Jaysen Knezovich, Nicole Faulkner, Nick Olsen, Swaroop Aradhya, Leslie Burnett","doi":"10.1016/j.gim.2025.101387","DOIUrl":"https://doi.org/10.1016/j.gim.2025.101387","url":null,"abstract":"<p><strong>Background: </strong>Professional organizations recommend pan-ancestry carrier screening for autosomal recessive (AR) and X-linked (XL) conditions. Advances in DNA sequencing allow for analysis of hundreds of genes, but the optimal number of genes for carrier screening remains unclear. The American College of Medical Genetics and Genomics (ACMG) has proposed a tiered approach, recommending screening for 113 genes.</p><p><strong>Methods: </strong>We analyzed ClinVar and gnomAD v4.1.0 for genes associated with serious AR and XL conditions and modeled screening performance across panels of varying composition and size in diverse genetic ancestries. We also reevaluated the ACMG gene list using this updated gnomAD data.</p><p><strong>Results: </strong>We identified potential inconsistencies in the ACMG gene lists, particularly in carrier test performance (which we define as positive yield) for underrepresented genetic ancestry groups. Modeling of population data for 1,310 genes revealed that screening 152, 248, 531 and 725 genes achieves 90%, 95%, 99% and 99.7% positive yield in couples, respectively. Real-world data from screening more than 60,000 couples validated our modeling.</p><p><strong>Conclusion: </strong>Our methodology optimizes gene content for carrier screening panels for diverse ancestry groups, providing a mechanism to continually update guidelines, ensure consistency with genomic population data and improve equity across populations.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101387"},"PeriodicalIF":6.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS).","authors":"Rebecca Ganetzky, Katelynn D Stanley, Laura E MacMullen, Ibrahim George-Sankoh, Jing Wang, Amy Goldstein, Rui Xiao, Marni J Falk","doi":"10.1016/j.gim.2025.101386","DOIUrl":"10.1016/j.gim.2025.101386","url":null,"abstract":"<p><strong>Purpose: </strong>Single large-scale mtDNA deletions (SLSMD) result in single large-scale deletion syndromes (SLSMDS). SLSMDS presentations have classically been recognized to encompass at least 3 distinct clinical phenotypes: Pearson syndrome (PS), Kearns-Sayre syndrome (KSS), and chronic progressive ophthalmoplegia.</p><p><strong>Methods: </strong>A facilitated review of electronic medical records, manual charts, and Research Electronic Data Capture research databases was performed to complete a retrospective natural history study of 30 participants with SLSMDS in a single health system between 2002 and 2020. The evaluated characteristics included genetic and clinical laboratory test values, growth parameters, signs and symptoms, demographics, and patient-reported outcome measures of fatigue, quality of life, and overall function.</p><p><strong>Results: </strong>Detailed cohort characterization highlighted that a recurrent deleted region involving MT-ND5 (HGNC:7641) occurs in 96% of participants with SLSMDS regardless of the clinical phenotype, which tends to evolve over time. Higher blood heteroplasmy correlated with an earlier age of onset. Growth differentiation factor 15 levels were elevated in all participants with SLSMDS. A history of PS was associated with poor survival prognosis. Furthermore, increased fatigue and decreased quality of life have been reported in patients with SLSMD with advanced age.</p><p><strong>Conclusion: </strong>A retrospective natural history study of patients with SLSMDS demonstrated the evolution of classically considered PS, Kearns-Sayre syndrome, and chronic progressive ophthalmoplegia clinical presentations in affected individuals, which may inform future clinical trial developments.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101386"},"PeriodicalIF":6.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}