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npj Genomic Medicine cover

npj Genomic Medicine

IF4.8
Papers184
Citations1993
Journal Papers 164
Publication Date
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Whole-genome profiling of hereditary cancer risk in a highly admixed cohort from Northeast Brazil: clinical, genomic, and ancestry findings
deletenpj Genomic Medicine
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
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
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
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
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
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
deletenpj Genomic Medicine
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
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
deletenpj Genomic Medicine
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
deletenpj Genomic Medicine
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 complexity
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 models
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
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
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
deletenpj Genomic Medicine
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
deletenpj Genomic Medicine
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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Comprehensive reanalysis of 2,040 undiagnosed clinical whole-genome sequencing cases improves diagnostic yield
deletenpj Genomic Medicine
IF4.8
delete2026-08-11
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deleteMajbritt Busk Madsen; Andreas Ørslev Rasmussen; Luca Robinson; Benjamin H. Conlon; Mira Marie Laustsen; Line Borgwardt; Anna Reimer Hansen; Emma A. H. Scott; Magnús Halldór Gíslason; Eva Leinøe; Andreas Glenthøj; Aase Krogh Rasmussen; Tania Masmas; Terese L. Katzenstein; Flemming Skovby; Karin Wadt; Martin Højgaard; Kristoffer Rohrberg; Maria Rossing
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Rapid resolution of variants of uncertain significance (VUS). A complementary role for zebrafish in the era of multi-million-dollar therapies
deletenpj Genomic Medicine
IF4.8
delete2026-08-10
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deleteJ. Giacomotto
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IMPACT: an open-source workflow for unified variant interpretation using phenotype-driven filtering
deletenpj Genomic Medicine
IF4.8
delete2026-08-02
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deleteNicholas A. Boehler; Hai-Ying Mary Cheng
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Genome sequencing based sequential diagnostic strategy improve diagnosed yield of pediatric genetic kidney disease: a national multicenter study
deletenpj Genomic Medicine
IF4.8
delete2026-07-31
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deleteChunyan Wang; Xiaoshan Tang; Xiuli Wang; Shuzhen Sun; Yuhong Li; Yijin Song; Yue Du; Qingshan Ma; Kaishu Zhao; Dexuan Wang; Qifan Zhu; Xiaoshan Shao; Xiaowen Wang; Lin Huang; Haitao Bai; Yang Yang; Ying Bao; Pei Qian; Shipin Feng; Min Xie; Xinli Han; Rufeng Dai; JiaoJiao Liu; Zhiqing Zhang; Qianfan Miao; Zhiquan Xu; Li Miao; Hui Zhang; Qing Sun; Dandan Xin; Yanyan Guo; Peng Li; Qiang Ma; Mei Han; Xiaojuan Shi; Yan Zhang; Junfeng Liu; Xiaoqing Yang; Wenli Xu; Yuanhan Qin; Fengying Lei; Xiaoyun Jiang; Liping Rong; Xiqiang Dang; Yongzhen Li; Hongbin Zhu; Ke Wu; Jianxin Wang; Ye Zhang; Taisong Li; Yihui Zhai; Xiaoyan Fang; Jing Chen; Aihua Zhang; Duan Ma; Qian Shen; Hong Xu
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