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npj Genomic Medicine 封面图

npj Genomic Medicine

IF4.8
论文数168
被引数1993
期刊论文 168
发表时间
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Polygenic risk for type 2 diabetes modulates gut microbiome associations across metabolic health traits2型糖尿病多基因风险调节肠道微生物组与代谢健康性状的关联
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IF4.8
delete2026-10-23
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deleteLauma Jagare; Ilze Elbere; Maija Rozenberga; Ivars Silamiķelis; Marija Simona Dombrovska; Ivanna Atava; Alvīne Helēna Janševska; Monta Brīvība; Jānis Kloviņš
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Impact of an integrated monogenic and polygenic risk assessment on Tier-1 conditions in a real-world cohort整合单基因和多基因风险评估对真实世界队列中一级条件的影响
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IF4.8
delete2026-10-20
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deleteAshley J. Mulford; Zhuqing Shi; Huy Tran; Jun Wei; Annabelle Ashworth; S. Lilly Zheng; Arman Qamar; Karen L. Kaul; Janardan D. Khandekar; Brian T. Helfand; Henry M. Dunnenberger; Peter J. Hulick; Michael S. Caplan; Jianfeng Xu; Alan R. Sanders
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Tumor analysis identifies Israeli founder pathogenic variation carriers肿瘤分析识别出携带以色列始祖性致病变异的个体
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IF4.8
delete2026-10-16
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deleteYael Shiri; Michal Inbar; Ahinoam Gugenheim; Nada Salaymeh; Myriam Maoz; Asher Hilou; Armond Avisrur; Dana Sherill-Rofe; MazalTov Marouani; Yusra Asli; Tamar Peretz; Luna Kadouri; Shiri Shkedi-Rafid; Liza Douiev; Orit Furman; Ruth Perets; Andrew Kelly; Aviad Zick
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Exploring the technical possibilities of metabolomic versus genomic tests for diagnosis of inborn errors of metabolism in NICU探讨代谢组学测试与基因组学测试在新生儿重症监护室中诊断先天性代谢病的可能性
deletenpj Genomic Medicine
IF4.8
delete2026-10-15
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deleteJun Li; Yuhan Chen; Siqi Hu; Mianwang He; Lei Yan; Jiandang Li; Yupei Zhang; Huiling Han; Yi Wang; Danhua Zhao; Jia Chen; Yabo Mei; Wanqiao Zhang
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Whole-genome profiling of hereditary cancer risk in a highly admixed cohort from Northeast Brazil: clinical, genomic, and ancestry findings对来自巴西东北部高度混血群体的遗传性癌症风险的基因组图谱分析：临床、基因组学和祖先来源发现
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IF4.8
delete2026-10-05
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deleteAna Camila Mendes Andrade; Angelina Xavier Acosta; Taisa Manuela Bonfim Machado-Lopes; Ivana Lucia de Oliveira Nascimento; Maria Betânia Pereira Toralles; Larissa Souza Mario Bueno; Thamara Claudia de Melo Ferreira; Lívia Brito Oliveira; Antonio Victor Campos Coelho; Eduardo Perrone; Pablo Ivan Pereira Ramos; Ricardo Khouri
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Long-read sequencing and T2T-CHM13 enable accurate detection of complex pathogenic inversions in Duchenne muscular dystrophy长读长测序和T2T-CHM13能够实现对杜氏肌营养不良症中复杂致病性倒位的精确检测
deletenpj Genomic Medicine
IF4.8
delete2026-10-03
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deleteQing Hou; Xufeng Luo; Shulei Wang; Enrui Chen; Xingzhi Chang; Huaxia Luo
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Long-read sequencing with targeted assembly of the opsin locus accurately evaluates genes in expressed positions靶向组装视蛋白基因座的长读长测序准确评估表达位点的基因
deletenpj Genomic Medicine
IF4.8
delete2026-10-03
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deleteZachary B. Anderson; Trent Prall; Nikhita Damaraju; Sophie HR Storz; Joy Goffena; Angela L. Miller; Joseph Carroll; Maureen Neitz; Danny E. Miller
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Moving beyond the diagnostic odyssey: the pathway from genomic diagnosis to patient-customised therapies for rare disease超越诊断探询：从基因组诊断到罕见病患者定制疗法的路径
deletenpj Genomic Medicine
IF4.8
delete2026-10-01
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deleteGaia Hendrikse-Strydom; Olin Silander; Mark Greenslade; Callum Wilson; Justin M. O’Sullivan
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Comprehensive analysis of germline pathogenic variants across melanoma黑色素瘤中胚系致病性变异的全面分析
deletenpj Genomic Medicine
IF4.8
delete2026-09-30
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deleteSarah E. Lochrin; Henry Walch; Yelena Kemel; Hannah L. Kalvin; Yonina R. Murciano-Goroff; Miika Mehine; James W. Smithy; Monica F. Chen; Diana Mandelker; Parisa Momtaz; Michael A. Postow; Chaitanya Bandlamudi; Daniel Muldoon; Michael F. Berger; Katherine S. Panageas; Walid K. Chatila; Zsofia K. Stadler; Alexander N. Shoushtari
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Integrated genome and RNA sequencing analysis as a powerful technical framework to diagnose primary ciliary dyskinesia整合基因组与RNA测序分析作为诊断原发性纤毛运动障碍的强大技术框架
deletenpj Genomic Medicine
IF4.8
delete2026-09-25
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deleteLidón Carretero-Vilarroig; Eduardo Calpena; Anna Esteve-Codina; Rosana Blanco-Máñez; Noelia Muñoz-Fernández; Isabel Ibáñez; Marc Dabad; Elena Aller; Gema García-García; Jose M. Millán; Miguel Armengot-Carceller; Teresa Jaijo
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Molecular therapy matching score correlates with clinical outcomes: a system for navigating cancer complexity分子疗法匹配评分与临床结局相关：一个导航癌症复杂性的系统
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IF4.8
delete2026-09-22
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deleteAlly Perlina; Subha Krishnan; Kevin T. Bush; Eden Romm; Jason K. Sicklick; Shumei Kato; Razelle Kurzrock
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Deep-learning-derived glaucoma-related endophenotypes enable novel genome-wide genetic and functional discovery基于深度学习的青光眼相关表型能够实现新的全基因组遗传和功能发现
deletenpj Genomic Medicine
IF4.8
delete2026-09-19
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deleteLiyin Chen; Yan Zhao; Saber Kazeminasab Hashemabad; Tobias Elze; Mohammad Eslami; Mengyu Wang; Janey L. Wiggs; Ayellet V. Segre; Nazlee Zebardast
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Long-read transcriptomics - opportunities and challenges长读长转录组学——机遇与挑战
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IF4.8
delete2026-09-09
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deleteDóra Tombácz; Gábor Torma; Zsolt Boldogkői
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Environmentally responsible human genomic data governance: points for consideration环境责任的人类基因组数据治理：需考虑的问题
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IF4.8
delete2026-09-03
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deleteNarcyz Ghinea; Gabrielle Samuel; Wendy Xin; Emma Bonser; Robert Cook-Deegan; Monica Ferrie; Christopher Gyngell; Margaret Otlowski; Alan Petersen; Bridget Pratt; Susie Roczo-Farkas; Ainsley J. Newson
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Illumina TruPath genome towards comprehensive high-resolution analysis of genomic diversity and structural complexityIllumina TruPath基因组通向对基因组多样性和结构复杂性进行全面高分辨率分析
deletenpj Genomic Medicine
IF4.8
delete2026-09-01
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deleteLuca Bertoli; Matteo Orlandi; Aurelia Iuliana Timis; Filippo Lucchini; Giada Carta; Antonina Rita Limongi; Drew Ellershaw; Jacqui Weir; Qing Zhang; Melissa Sambrotta; Sean Humphray; Elena Parrini; Renzo Guerrini; Davide Mei; Massimo Delledonne
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aiDIVA – hybrid AI for rare disease diagnostics using evidence-based, machine learning and language modelsaiDIVA – 基于证据、机器学习和语言模型的混合人工智能用于罕见病诊断
deletenpj Genomic Medicine
IF4.8
delete2026-08-29
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deleteDominic Boceck; Lucia Laugwitz; Marc Sturm; Daniela Bezdan; Axel Gschwind; Tobias B. Haack; Stephan Ossowski
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Resolving the complex CES1 genomic locus with Cas9-directed targeted long-read sequencing利用Cas9引导的靶向长读长测序解析复杂的CES1基因组位点
deletenpj Genomic Medicine
IF4.8
delete2026-08-22
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deleteE. Lekka; A. Ambrodji; A. Nater; A. Ballah; U. Amstutz; A. Ramette; C. R. Largiadèr
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Monoallelic and Biallelic FOXP4 Variants Cause Short Stature, Dysmorphic Features, Neurodevelopmental, Heart, and Congenital Abnormalities单等位基因和双等位基因FOXP4变异导致身材矮小、畸形特征、神经发育、心脏和先天性异常
deletenpj Genomic Medicine
IF4.8
delete2026-08-13
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deleteEssa Alharby; Malak Ali Alghamdi; Abeer A. Alsofyani; Eissa A. Faqeih; Mohammed Saleh; Chaya N. Murali; Rachel Franciskovich; Jerica Lenberg; Jennifer Friedman; Robin-Tobias Jauss; Rami Abou Jamra; Sophie Rondeau; Sandrine Marlin; Daniel G. Calame; Arthur Sorlin; Jean-Paul Hermand; Mohammed Abdullah Alotaibi; Nada A. Almarghalani; Adriane Cardoso-Demartini; Laurana de Polli Cellin; Nathalia Lisboa Gomes; James R. Lupski; Amel Bouchatal; Julien Van Gils; Benjamin Dauriat; Khaled K. Abu-Amero; Alexander Augusto de Lima Jorge; Almohanad A. Alkayyal; Ahmad Bakur Mahmoud; Naif A. M. Almontashiri
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Whole-exome sequencing reveals the genetic landscape and polygenic susceptibility in 1241 patients with clinically suspected hemophagocytic lymphohistiocytosis全外显子组测序揭示1241例临床疑似噬血淋巴组织细胞增生症患者的遗传谱系和多基因易感性
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IF4.8
delete2026-08-12
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deleteYuhuan Meng; Maoting Shen; Shu-Yi Guo; Meng-Yuan Yang; Tao Chen; Yuxin Chen; Xijie Fan; Yina Zhao; Jian Wang; Hui-Qin Chen; Shilin Liu; Lihua Yang; Liuhua Liao; Hong Wen; Yawei Zou; Guiling Mo; Lirong Lu; Huawen Wang; Kaiyuan Diao; Jianhua Pan; Hou-Feng Zheng; Dun-Hua Zhou; Shihui Yu
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Multi-omic re-analysis increases diagnostic yield in individuals with Cornelia de Lange syndrome多组学再分析提高了科尼利亚·德·朗格综合征患者的诊断率
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IF4.8
delete2026-08-12
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deleteRamakrishnan Rajagopalan; Tejas Jammihal; Tanaya Jadhav; Maninder Kaur; Kaitlyn Szot; Justin J. Blair; Sarah E. Raible; Laura K. Conlin; Ian D. Krantz
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