Genetics in Medicine最新文献

{"title":"Response to Connolly et al","authors":"Cassie Houtz","doi":"10.1016/j.gim.2024.101325","DOIUrl":"10.1016/j.gim.2024.101325","url":null,"abstract":"","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 2","pages":"Article 101325"},"PeriodicalIF":6.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142618587","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":"The “genetic test request”: A genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital","authors":"Lisa F. Saba ,&nbsp;Haley Streff ,&nbsp;Dolores Lopez-Terrada ,&nbsp;Jennifer Scull","doi":"10.1016/j.gim.2024.101330","DOIUrl":"10.1016/j.gim.2024.101330","url":null,"abstract":"<div><h3>Purpose</h3><div>Exome sequencing (ES) and genome sequencing (GS) are useful tests to diagnose rare diseases in pediatric patients in critical care settings. Genomic test stewardship can increase the appropriate use of these tests leading to improved diagnostics and cost savings.</div></div><div><h3>Methods</h3><div>A mandatory review of ES and GS orders for admitted patients was implemented in March 2023. Outcomes of the reviews, cost analysis, and subsequent test results through February 2024 were analyzed with descriptive statistics.</div></div><div><h3>Results</h3><div>There were 444 genetic test request orders placed for 412 unique patients. Of these, 81 (18.2%) were redirected and 57 (12.8%) required modification after approval, leading to an overall cost savings of $345,821.00 or $778.88 per order. The combined diagnostic rate was 28.2% in this patient population.</div></div><div><h3>Conclusion</h3><div>Stewardship of ES/GS orders for pediatric inpatients is an effective tool to improve the appropriate usage of these genomic tests. Additional collaboration with stakeholders and expansion of genomic stewardship initiatives may shorten the diagnostic odyssey for critically ill pediatric patients and result in cost savings.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 2","pages":"Article 101330"},"PeriodicalIF":6.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667326","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":"X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation","authors":"Alexandre Buffet ,&nbsp;Mathilde Filser ,&nbsp;Alexandra Bruel ,&nbsp;Rodolphe Dard ,&nbsp;Thibaud Quibel ,&nbsp;Charlotte Dubucs ,&nbsp;Theresa Kwon ,&nbsp;Pauline Le Tanno ,&nbsp;Julien Thevenon ,&nbsp;Alban Ziegler ,&nbsp;Lise Allard ,&nbsp;Vincent Guigonis ,&nbsp;Jean-Jacques Roux ,&nbsp;Laurence Heidet ,&nbsp;Claire Rougeulle ,&nbsp;Olivia Boyer ,&nbsp;Rosa Vargas-Poussou ,&nbsp;Marguerite Hureaux","doi":"10.1016/j.gim.2024.101217","DOIUrl":"10.1016/j.gim.2024.101217","url":null,"abstract":"<div><h3>Purpose</h3><div>Transient Bartter syndrome related to pathogenic variants of <em>MAGED2</em> is the most recently described antenatal Bartter syndrome. Despite its transient nature, it is the most severe form of Bartter syndrome in the perinatal period. Our aim was to describe 14 new cases and to try to explain the incomplete penetrance in women.</div></div><div><h3>Methods</h3><div>We report on 14 new cases, including 3 females, and review the 40 cases described to date. We tested the hypothesis that <em>MAGED2</em> is transcriptionally regulated by differential methylation of its CpG-rich promotor by pyrosequencing of DNA samples extracted from fetal and adult leukocytes and kidney samples.</div></div><div><h3>Results</h3><div>Analysis of the data from 54 symptomatic patients showed spontaneous resolution of symptoms in 27% of cases, persistent complications in 41% of cases, and fatality in 32% of cases. Clinical anomalies were reported in 76% of patients, mostly renal anomalies (52%), cardiovascular anomalies (29%), and dysmorphic features (13%). A developmental delay was reported in 24% of patients. Variants were found in all regions of the gene. Methylation analysis of the <em>MAGED2</em> CpG-rich promotor showed a correlation with gender, independent of age, tissue or presence of symptoms, excluding a role for this mechanism in the incomplete penetrance in women.</div></div><div><h3>Conclusion</h3><div>This work enriches the phenotypic and genetic description of this recently described disease and deepens our understanding of the pathophysiological role and regulation of <em>MAGED2</em>. Finally, by describing the wide range of outcomes in patients, this work opens the discussion on genetic counseling offered to families.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 2","pages":"Article 101217"},"PeriodicalIF":6.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141733873","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":"Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and polygenic risk scores to inform colorectal cancer screening","authors":"Shangqing Jiang ,&nbsp;Gregory F. Guzauskas ,&nbsp;Shawn Garbett ,&nbsp;John A. Graves ,&nbsp;Marc S. Williams ,&nbsp;Jing Hao ,&nbsp;Jinyi Zhu ,&nbsp;Gail P. Jarvik ,&nbsp;Josh J. Carlson ,&nbsp;Josh F. Peterson ,&nbsp;David L. Veenstra","doi":"10.1016/j.gim.2024.101285","DOIUrl":"10.1016/j.gim.2024.101285","url":null,"abstract":"<div><h3>Purpose</h3><div>Genomic screening to identify individuals with Lynch Syndrome (LS) and those with a high polygenic risk score (PRS) promises to personalize colorectal cancer (CRC) screening. Understanding its clinical and economic impact is needed to inform screening guidelines and reimbursement policies.</div></div><div><h3>Methods</h3><div>We developed a Markov model to simulate individuals over a lifetime. We compared LS+PRS genomic screening with standard of care (SOC) for a cohort of US adults at age 30. The Markov model included health states of no CRC, CRC stages (A-D), and death. We estimated incidence, mortality, and discounted economic outcomes of the population under different interventions.</div></div><div><h3>Results</h3><div>Screening 1000 individuals for LS+PRS resulted in 1.36 fewer CRC cases and 0.65 fewer deaths compared with SOC. The incremental cost-effectiveness ratio was $124,415 per quality-adjusted life year; screening had a 69% probability of being cost-effective using a willingness-to-pay threshold of $150,000/quality-adjusted life year . Setting the PRS threshold at the 90th percentile of the LS+PRS screening program to define individuals at high risk was most likely to be cost-effective compared with 95th, 85th, and 80th percentiles.</div></div><div><h3>Conclusion</h3><div>Population-level LS+PRS screening is marginally cost-effective, and a threshold of 90th percentile is more likely to be cost-effective than other thresholds.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 2","pages":"Article 101285"},"PeriodicalIF":6.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365043","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":"Payer perspectives on genomic testing in the United States: A systematic literature review","authors":"Julie Wiedower ,&nbsp;Hadley Stevens Smith ,&nbsp;Christopher L. Farrell ,&nbsp;Veronica Parker ,&nbsp;Laura Rebek ,&nbsp;Stephanie Clark Davis","doi":"10.1016/j.gim.2024.101329","DOIUrl":"10.1016/j.gim.2024.101329","url":null,"abstract":"<div><h3>Purpose</h3><div>Health care stakeholders’ perspectives on the value of genomic testing vary widely and directly affect the access and practice of genomic medicine. To our knowledge, a review of US health care payers’ perspectives on genomic testing has not been performed.</div></div><div><h3>Methods</h3><div>We conducted a systematic literature review of US payers’ perspectives on genomic testing in the MEDLINE, PubMed, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases. Of the 161 nonduplicate records screened, we summarized findings from 20 included records, and using the framework method, common domains were recorded.</div></div><div><h3>Results</h3><div>Domains included clinical utility, coverage decision frameworks, potential harms, costs, paying for research, demand/pressure, the flexibility of outcomes considered, and personal utility. There was consensus on the definition of clinical utility as improved health outcomes, and the nuances of genomic testing were reported as challenging to fit within existing coverage decision frameworks. Perspectives varied on accepting broader outcomes or uses of genomic testing and whether costs influence coverage decisions. Study methodologies were heterogeneous.</div></div><div><h3>Conclusion</h3><div>A deeper understanding of how payers approach genomic testing may allow comparison with other stakeholders’ perspectives and may identify challenges, opportunities, and solutions to align a conceptual and evidentiary framework better to demonstrate the value of genomic testing.</div></div>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":"27 2","pages":"Article 101329"},"PeriodicalIF":6.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667350","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":"Intersectionality in a Sociogenomic World: How do Race, Disability, Socioeconomic Status, and Polygenic Prediction Interact to Impact Perceptions of Educational Trajectories?","authors":"Lucas J Matthews, Daphne O Martschenko, Colby Lewis V, Maya Sabatello","doi":"10.1016/j.gim.2025.101368","DOIUrl":"https://doi.org/10.1016/j.gim.2025.101368","url":null,"abstract":"<p><strong>Purpose: </strong>Education is important for life-long skills and economic growth, but student placement decisions may be shaped by social biases. As genomic information captured via polygenic scores becomes more available, it may also inform student placement decisions. We assessed the intersectional effects of polygenic scores, race, disability, and socioeconomic status on US adults' views about educational trajectories using an online experimental survey design.</p><p><strong>Methods: </strong>1,367 US adults were randomized to one of 16 conditions and prompted to read a short vignette about a boy named \"Michael,\" also depicted in an image. Each condition varied Michael's race (Black/White), disability (wheelchair-user/no), socioeconomic status (high/low), and polygenic score (high/low) for educational attainment (EA-PGS). After reading the vignette, respondents were asked to answer multi-choice questions about Michael's immediate and long-term educational trajectories.</p><p><strong>Results: </strong>Variation in Michael's EA-PGS strongly influenced participants' expectations regarding: 1) the most appropriate immediate educational program for Michael (i.e., general, 'special', or gifted education); 2) whether he would graduate high school; and, if so, 3) the highest educational degree he would complete in his lifetime (Associates, Bachelors, Masters, or PhD). Across these responses, high EA-PGS was associated with more socially desirable outcomes and the opposite was the case for low EA-PGS. Depicting Michael in a wheelchair significantly influenced respondents' expectation that his most appropriate immediate educational trajectory would be 'special' education. There were significant interactions between Michael's race, disability, socioeconomic status, and EA-PGS.</p><p><strong>Conclusion: </strong>Information about a child's EA-PGS may impact views about their immediate and long-term educational trajectories. The negative impacts of a low EA-PGS are comparable to the positive impacts of a high EA-PGS. EA-PGS may be interpreted in ways that compound existing stereotypes related to a child's race, disability, and socioeconomic status.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101368"},"PeriodicalIF":6.6,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122887","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":"\"All doctors should be trained in that\": The co-production and mixed-methods evaluation of an educational toolkit to enable safe, high-quality genetic healthcare for people with intellectual disability.","authors":"Iva Strnadová, Manjekah Dunn, Chloe Molnar, Julie Loblinzk, Jackie Leach Scully, Joanne Danker, Michelle Tso, Tiffany Qing Lim, Yasmin Cathcart-King, Karen-Maia Jackaman, Sarah Hayes, Sierra Angelina Willow, Jackie Boyle, Jennifer Hansen, Skie Sarfaraz, Caroline Basckin, Celia Halliburton, Thulasee Sri Ganeshan, Edwina K Middleton, Bronwyn Terrill, Elizabeth Emma Palmer","doi":"10.1016/j.gim.2025.101371","DOIUrl":"https://doi.org/10.1016/j.gim.2025.101371","url":null,"abstract":"<p><strong>Purpose: </strong>People with intellectual disability inequitably access high-quality genetic healthcare. Yet, they are keen to understand more about genetic healthcare and recommend clinicians need education on delivering more inclusive care and that multi-modal genetic health literacy resources should be co-produced.</p><p><strong>Methods: </strong>Our inclusive research team applied best practice co-production principles to deliver a suite of resources, the GeneEQUAL Toolkit. Mixed-methods evaluation including surveys and a focus group/interviews assessed (i) clinicians' perceived capabilities, motivation, and opportunities for providing inclusive healthcare for people with intellectual disability before and after exploring the Toolkit; (ii) the perceptions and opinions of people with intellectual disability about the Toolkit; (iii) the reach of the Toolkit components; and (iv) the reflections of people with intellectual disability and clinicians on the co-production process.</p><p><strong>Results: </strong>The Toolkit met the expectations and preferences of people with intellectual disability and clinicians and had global reach. Co-production was feasible and judged critical for the high value of the Toolkit, in motivating clinicians to change their clinical practice and empowering people with intellectual disability.</p><p><strong>Conclusion: </strong>Co-production can be successfully applied to improve the engagement of people with intellectual disability and potentially reduce health inequity and improve safety and quality of genetic healthcare.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101371"},"PeriodicalIF":6.6,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074451","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":"De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.","authors":"Monika Weisz-Hubshman, Lindsay C Burrage, Sharayu V Jangam, Jill A Rosenfeld, Sandra von Hardenberg, Anke Bergmann, Manuela Friederike Richter, Malgorzata Rydzanicz, Rafal Ploski, Agnieszka Stembalska, Wendy K Chung, Rebecca R Hernan, Foong Y Lim, Theresa Brunet, Steffen Syrbe, Boris Keren, Solveig Heide, David R Murdock, Hongzheng Dai, Fan Xia, Shamika Ketkar, Brian Dawson, Vinodh Narayanan, Hillary K Graves, Michael F Wangler, Carlos Bacino, Brendan Lee","doi":"10.1016/j.gim.2025.101369","DOIUrl":"https://doi.org/10.1016/j.gim.2025.101369","url":null,"abstract":"<p><strong>Purpose: </strong>Polycomb group (PcG) proteins are key epigenetic regulators of gene transcription. Multiple neurodevelopmental disorders have been associated with pathogenic variants in genes encoding PcG proteins. RYBP is a core component of the non-canonical Polycomb Repressor Complex 1; however, its role in disease is unclear.</p><p><strong>Methods: </strong>Functional consequences of RYBP variants were assessed through in vitro cellular studies and in vivo Drosophila melanogaster studies.</p><p><strong>Results: </strong>We describe seven individuals with heterozygous de novo variants in RYBP and clinical findings including severe developmental delay, dysmorphisms and multiple congenital anomalies. We show that all the single nucleotide variants in RYBP localize to the N-terminal domain of the gene, which encodes the zinc finger domain and ubiquitin binding moiety. In vitro studies demonstrate that the RYBP c.132C>G p.(Cys44Trp) variant causes reduced protein expression but does not affect binding of YY1, RING1B or ubiquitin. In vivo overexpression studies in Drosophila melanogaster show a dramatic functional difference from human RYBP and variant forms affecting the C44 amino acid residue. DNA methylation studies suggest a possible episignature that may be associated with RYBP-related disorder.</p><p><strong>Conclusion: </strong>Heterozygous de novo variants in RYBP are associated with an identifiable syndromic neurodevelopmental disorder with multiple congenital anomalies.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101369"},"PeriodicalIF":6.6,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074556","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":"Digital technologies in genetic counseling: recommendations for a morally sound integration.","authors":"Marlies N van Lingen, Noor A A Giesbertz, Karin R Jongsma","doi":"10.1016/j.gim.2025.101370","DOIUrl":"https://doi.org/10.1016/j.gim.2025.101370","url":null,"abstract":"<p><p>To deal with the increasing demand for clinical genetic counseling digital technologies are currently being developed to increase efficiency and overcome logistical or societal barriers in genetic healthcare. However, it is not self-evident that genetic technologies will improve the quality of and access to genetic counseling. Moreover, several ethical questions about the appropriate tasks of digital technologies in the genetic care process have been raised, especially when personal contact is supplemented or even replaced with digital technologies. Currently, ethical reflection on introducing digital resources in genetic counseling is scarce. Here we reflect on three central domains in which promises of digitalization of genetic counseling are generally discussed in the literature (1) promoting patient autonomy and patient-centered care, (2) increasing efficiency, and (3) increasing accessibility. We argue that the benefits of digitalization are not self-evident and are paired with challenges. We conclude by offering four recommendations to promote an ethically sound development of digital technologies in genetic healthcare: (1) specify intended tasks and expected benefits of the digital technology, (2) identify potential challenges of digitalization, (3) consider the role of end-users within the genetic care process, and (4) ensure iterative stakeholder consultation and engagement.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101370"},"PeriodicalIF":6.6,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143074562","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":"Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: novel cases of Familial Chylomicronemia Syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.","authors":"Mj Ariza, I Coca-Prieto, José Rioja, Ovidio Muñiz-Grijalvo, Daniel Zambón-Rados, Agustín Blanco-Echavarría, Teresa Arrobas-Velilla, Javier Delgado-Lista, David León-Jiménez, Marta Casañas-Martínez, Luis A Álvarez-Sala-Walther, Liliana Gutiérrez-Carrasquilla, Justo Sánchez-Gil, Mónica Domènech, Andrés González-Jiménez, Ma José Benítez-Toledo, Javier Espíldora-Hernández, Emilio Ortega-Martínez de Victoria, Ma Sánchez-Chaparro, Pedro Valdivielso","doi":"10.1016/j.gim.2025.101365","DOIUrl":"https://doi.org/10.1016/j.gim.2025.101365","url":null,"abstract":"<p><strong>Purpose: </strong>Genetic testing is required to confirm a diagnosis of familial chylomicronemia syndrome (FCS). We assessed the pathogenicity of variants identified in the FCS canonical genes to diagnose FCS cases.</p><p><strong>Methods: </strong>245 patients with severe hypertriglyceridemia underwent next-generation sequencing. Preliminary variant pathogenicity criteria and classification, based on the American College of Medical Genetics and Genomics (ACMG) guidelines, were obtained online and verified. Phenotype evaluation was based on lipoprotein lipase activity deficiency, a clinical score, and/or type I hyperlipoproteinemia determined in 25 patients.</p><p><strong>Results: </strong>Twenty-four biallelic variants were analysed. Evidence-based criteria allowed the reclassification of eight likely pathogenic (LP) variants in the LPL, APOA5, and LMF1 genes into pathogenic (P) and the change of two variants of uncertain significance (VUS) to LP. Conversely, two variations in LMF1 remained as VUS. Additionally, one variant in LPL and two in GPIHBP1 were likely benign (LB). Twenty FCS cases had biallelic P/LP variants and one patient, with an FCS phenotype, harboured biallelic VUS. FCS was excluded from four patients with P/LB combinations.</p><p><strong>Conclusion: </strong>The analysis of the clinical and biochemical features of patients with variants in the FCS canonical genes allowed a confident variant classification that helped in the diagnosis of novel FCS cases.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101365"},"PeriodicalIF":6.6,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052332","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}