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Genome Medicine

IF11.2
论文数2301
被引数13658
期刊论文 2301
发表时间
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasisDDX41基因的双等位基因生殖系变异通过视网膜稳态失调导致视网膜营养不良
delete2026-10-31
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deleteZoéline Mars; Andrea Zanetti; Karolina Kaminska; Takero Miyagawa; Duanya Liu; Aline Antonio; Gavin Arno; Isabelle Audo; Carmen Ayuso; Hafiz Muhammad Jafar Hussain; Xuan Bao; Pilar Barberán-Martínez; Béatrice Bocquet; Anna Boguszewska-Chachulska; Christel Condroyer; Pierre David; Hélène Dollfus; Lucas Fares-Taie; Lidia Fernández-Caballero; Gema García-García; Victor Michel; Chiara Ida Guerrera; Vincent Jung; Line Kessel; Louise Gioja; Siying Lin; Ewa Matczynska; Jose M. Millán; Abigail R. Moye; M. Pilar Martín-Gutiérrez; Mathieu Quinodoz; Matthieu P. Robert; Jerome E. Roger; Rui Sousa-Luis; Saoud Tahsin Swafiri; Slawomir Teper; Frederic Tran Mau Them; Isabelle Meunier; Olivier Patat; Mark E. Pennesi; Karin A. W. Wadt; Meng Wang; Andrew R. Webster; Paul Yang; Li Yumei; Christina Zeitz; Frederic Rieux-Laucat; Stéphane Giraudier; Rui Chen; Sebastian M. Fica; Carlo Rivolta; Marie Sebert; Jean-Michel Rozet; Isabelle Perrault
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Longitudinal single-cell RNA sequencing of a neuroendocrine transdifferentiation model reveals transcriptional reprogramming in treatment-induced neuroendocrine prostate cancer纵向单细胞RNA测序揭示治疗诱导性神经内分泌前列腺癌中的转录重编程
delete2026-10-28
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deleteFunda Sar; Hee Chul Chung; Dong Lin; Tunc Morova; Anne Haegert; Stanislav Volik; Robert Bell; Stéphane LeBihan; Dogancan Ozturan; Hui Xue; Xin Dong; Rebecca Wu; Jing Li; Hsing-Jien Kung; Martin E. Gleave; Nathan A. Lack; Yen-Yi Lin; Yuzhuo Wang; Colin C. Collins
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Evaluating gene expression-based approaches for functional assessment of non-coding variants in neurodevelopmental disorders基于基因表达的方法评估神经发育障碍中非编码变异的功能
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deleteAnna Khabarova; Alexandra Yan; Paul Salnikov; Nikita Torgunakov; Anna Tarkhova; Maria Gridina; Elizaveta Musatova; Danyllo Oliveira; Mateus Vidigal de Castro; Mayana Zatz; Letícia Alves da Rocha; Débora R. Bertola; Monize Valéria Ramos da Silva; Artem Nurislamov; Galina Koksharova; Veniamin Fishman
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Tracing the origins of multidrug resistant bacteria in Ukraine追踪乌克兰多药耐药细菌的起源
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deleteFrancois Lebreton; Viacheslav Kondratiuk; Katelyn Bartlett; Ting L. Luo; Valentyn Kovalchuk; Ana Ong; Brendan T. Jones; Rosslyn A. Maybank; Anjali Sapre; Emily Nguyen; Yoon I. Kwak; Dmytro Stepanskyi; Anette M. Hammerum; Nadiia Fomina; Robert J. Cybulski; Henrik Hasman; Antoni P. A. Hendrickx; Frieder Fuchs; Sören Gatermann; Niels Pfennigwerth; Melissa J. Martin; Jason W. Bennett; Patrick T. Mc Gann
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Comprehensive adjudication identifies 108 high-confidence genetic signals for Alzheimer’s disease and related dementias全面审评鉴定出108个高置信度的阿尔茨海默症及相关痴呆症的遗传信号
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deleteYuk Yee Leung; Edoardo M. Marcora; Adam Naj; Tulsi Patel; Kathy Sedgwick; Zivadin Katanic; M. Ryan Corces; Li-San Wang; Richard Mayeux; Alison Goate; Lindsay Farrer; Gerard D. Schellenberg; Brian Kunkle; Badri N. Vardarajan
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Ciprofloxacin resistance in Klebsiella pneumoniae: phenotype prediction from genotype and global distribution of resistance determinants克雷伯氏肺炎杆菌的环丙沙星耐药性:基于基因型的表型预测和耐药决定因子的全球分布
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deleteKara K. Tsang; Iana Amke; David M. Aanensen; Jabir Abdulahi; Alexander Aiken; Michael A. Bachman; Stephen Baker; Katherine Barry; Gherard Batisti Biffignandi; Emília Ma. M. de Andrade Belitardo; Iván Bloise; Ilhem Boutiba-Ben Boubaker; Chanté Fortuin; Sylvain Brisse; Susana Campino; Rafael Cantón; Alexandra Chiaverini; Daniela Maria Cirillo; Taane G. Clark; Teresa M. Coque; Jukka Corander; Marta Corbella; Alessandra Cornacchia; Jennifer Cornick; Annapaula Correia; Aline Cuénod; Vo Thi Trang Dai; Nicola D’Alterio; Sophia David; Federico Di Marco; Pilar Donado-Godoy; Jenny Draper; Adrian Egli; Refath Farzana; Nicholas A. Feasey; Edward J. Feil; Maria Laura Ferrando; Brian M. Forde; Aasmund Fostervold; Ebenezer Foster-Nyarko; Tommaso Giani; Claire L. Gorrie; Yukino Gütlin; Patrick N. A. Harris; Brekhna Hassan; Marisa Haenni; Wataru Hayashi; Eva Heinz; Marta Hernández-García; Marit Andrea Klokkhammer Hetland; Le Nguyen Minh Hoa; Nguyen Thi Hoa; Le Thi Hoi; Benjamin P. Howden; Odion O. Ikhimiukor; Jonathan R. Iredell; Dana Itani; Adam W. J. Jenney; Håkon Pedersen Kaspersen; Shizuo Kayama; Fahad Khokhar; Norikazu Kitamura; Appiah-Korang Labi; Margaret M. C. Lam; Val F. Lanza; Fernando Lázaro-Perona; Thongpan Leangapichart; Melese Hailu Legese; Le Thi Lien; Małgorzata Ligowska-Marzęta; Samuel Lipworth; Iren Høyland Löhr; S. Wesley Long; Giovanni Lorenzin; Alicia Fajardo Lubian; Amy J. Mathers; Andrew G. McArthur; Nubwa Medugu; Adane Mihret; Adriano Souza Santos Monteiro; Patrick Musicha; Geetha Nagaraj; Bernd Neumann; Mae Newton-Foot; Anderson O. Oaikhena; Iruka N. Okeke; João Perdigão; Luis G. C. Pacheco; Sally R. Partridge; David L. Paterson; Oliver Pearse; My H. Pham; Francesco Pomilio; Niclas Raffelsberger; Andriniaina Rakotondrasoa; K. L. Ravikumar; Joice Neves Reis; Sandra Reuter; Leah W. Roberts; Carla Rodrigues; Charlene Rodrigues; Jesus Rodriguez-Baño; Gian Maria Rossolini; Ørjan Samuelsen; Francesca Saluzzo; Kirsty Sands; Davide Sassera; Helena M.B. Seth-Smith; Andrea Spitaleri; Varun Shamanna; Norelle L. Sherry; Sonia Sia; Hanen Smaoui; Anton Spadar; Jörg Steinmann; Nicole Stoesser; Motoyuki Sugai; Yo Sugawara; Marianne Sunde; Arnfinn Sundsfjord; Göte Swedberg; Lamia Thabet; Nicholas R. Thomson; Harry A. Thorpe; M. Estée Torok; Van Dinh Trang; Nguyen Vu Trung; Paul Turner; Jay Vornhagen; Nguyen Hoang Vu; Boaz D. Wadugu; Timothy R. Walsh; Andrew Whitelaw; Hayley Wilson; Kelly L. Wyres; Corin Yeats; Koji Yahara; Meriam Zribi; Kathryn E. Holt
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Germline pathogenic variants identification through comprehensive cancer genome profiling通过全面癌症基因组分析鉴定生殖系致病性变异
delete2026-10-27
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deleteSimona Duranti; Arianna Panfili; Camilla Nero; Ilenia Marino; Iolanda Mozzetta; Simone Rossi; Giulia Maneri; Tina Pasciuto; Luciano Giacò; Angelo Minucci; Diana Giannarelli; Anna Fagotti; Francesco Fanfani; Emilio Bria; Lisa Salvatore; Maria Alessandra Calegari; Roberto Iacovelli; Ketty Peris; Rita Trozzi; Valentina Iacobelli; Antonio Vitale; Annamaria Pietrosante; Alessia Piermattei; Emanuela Lucci Cordisco; Giampaolo Tortora; Giovanni Scambia; Maurizio Genuardi
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Clinico-genomic determinants of relapse in metachronous colorectal cancer metastases同步结直肠癌转移复发的临床-基因组学决定因素
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deletePetr Holý; Lino Möhrmann; Yuxiang Zhou; Viktor Hlaváč; Bhavana Hemantha Rao; Lenka Červenková; Lucie Heczko; Václav Liška; Ondřej Vyčítal; Hynek Mírka; Ondřej Fiala; Pavel Souček; Felix Dietlein
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Accelerated and comprehensive pediatric cancer profiling using whole-genome sequencing with adaptive sampling利用自适应采样进行全基因组测序以加速和全面地进行儿科癌症分析
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deleteNicholas Geoffrion; Charlene Lawruk-Desjardins; Sylvie Langlois; Marjorie Aleman Alvarado; Niklas Dreyer; Véronique Lisi; Mélanie Sagniez; Anthony Claude Carrier; Chantal Richer; Alex Richard St-Hilaire; Pascal Tremblay-Dauphinais; Alain R. Bataille; Thomas Sontag; Séverine Landais; Alexandre Rouette; Loubna Jouan; Imène Boumela; Banafsheh Khakipoor; Sandy Fong; Stéphanie Vairy; Catherine Goudie; Nada Jabado; Raoul Santiago; Adam Shlien; Martin A. Smith; Daniel Sinnett; Sonia Cellot; Thai Hoa Tran; Vincent-Philippe Lavallée
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Spatial transcriptomics landscape of livers from patients with metabolic dysfunction-associated steatohepatitis代谢功能障碍相关脂肪性肝炎患者肝脏的空间转录组学景观
delete2026-10-24
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deleteBaeki E. Kang; Aron Park; Miseon Lee; Sungyeon Kim; Hyeok Kang; Seong Min Kim; Ji-Hyeon Park; Dongryeol Ryu; Jisup Kim; Seungyoon Nam; Dae Ho Lee
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Temporal analysis of clinical variant reclassification (2012–2025)2012–2025年临床变异重新分类的时间分析
delete2026-10-23
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deleteYilun Liang; Gongbo Zhang; Larry Babb; Heidi L. Rehm; Jordan G. Nestor; Jerard Z. Kneifati-Hayek; Yiming Luo; Sarath B. Krishna Murthy; Yufeng Shen; Kai Wang; Wendy K. Chung; Chunhua Weng
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The average individual genome: a survey of nearly 1 million whole-genome sequences平均个体基因组:近100万个全基因组序列的调查
delete2026-10-22
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deleteHarrison I. W. Wright; Robin N. Beaumont; James Fasham; Joseph S. Leslie; V. Kartik. Chundru; Timothy S. Hall; Stuart J. Cannon; Alistair T. Pagnamenta; Emma L. Baple; Andrew R. Wood; Anna Murray; Leigh Jackson; Michael N. Weedon; Kashyap Patel; Gareth Hawkes; Caroline F. Wright
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Charting brain structure in 22q11.2 deletion syndrome with clinical neuroimaging绘制22q11.2缺失综合征的临床神经影像学脑结构图谱
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deleteBenjamin Jung; J. Eric Schmitt; Jakob Seidlitz; Jenna M. Schabdach; Shivaram Karandikar; T. Blaine Crowley; Lena Dorfschmidt; Ayan S. Mandal; Dabriel Zimmerman; Remo M. S. Williams; Smrithi Prem; Elizabeth Levitis; Margaret Gardner; Katherine Cyr; Viveknarayanan Padmanabhan; Jerome H. Taylor; Kosha Ruparel; Rune Boen; Carrie E. Bearden; Christopher R. K. Ching; Bogdan Pasaniuc; Stewart A. Anderson; Daniel McGinn; Elaine Zackai; Beverly Emanuel; Sarah Hopkins; Madeline Chadehumbe; Karen J. Low; Tim J. Cole; Richard A. I. Bethlehem; Russell T. Shinohara; J. William Gaynor; David R. Roalf; Raquel E. Gur; Donna M. McDonald-McGinn; Aaron Alexander-Bloch
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Multikingdom and functional gut microbiota markers for cholangiocarcinoma多界和功能性肠道微生物组标记物与胆管癌
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deleteBenchen Rao; Shanshuo Liu; Guangying Cui; Jianwen Jiang; Na Li; Ji Hu; Ranran Sun; Ang Li; Ruiqing Zhang; Haifeng Lu; Peihao Wen; Jianfeng Xue; Tuerganaili Aji; Haiyu Wang; Xiaolong Chen; Shusen Zheng; Zujiang Yu; Zhigang Ren
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