4.6(top 5%)
impact factor
421(top 50%)
papers
7.4K(top 20%)
citations
40(top 20%)
h-index
4.7(top 10%)
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448
all documents
8.9K
doc citations
68(top 20%)
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Top Articles

#TitleJournalYearCitations
1Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesNpj Genomic Medicine2018420
2Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalizationNpj Genomic Medicine2018314
3Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicineNpj Genomic Medicine2016295
4Genome-wide characteristics of de novo mutations in autismNpj Genomic Medicine2016200
5Exome sequencing of 457 autism families recruited online provides evidence for autism risk genesNpj Genomic Medicine2019163
6The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infantsNpj Genomic Medicine2018156
7Genomic landscape of high-grade meningiomasNpj Genomic Medicine2017130
8Genomic and immune heterogeneity are associated with differential responses to therapy in melanomaNpj Genomic Medicine2017120
9A large data resource of genomic copy number variation across neurodevelopmental disordersNpj Genomic Medicine2019118
10Circular RNA expression is abundant and correlated to aggressiveness in early-stage bladder cancerNpj Genomic Medicine2017105
11Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapyNpj Genomic Medicine2016103
12Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han ChineseNpj Genomic Medicine2021100
13Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletionNpj Genomic Medicine201897
14Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequencesNpj Genomic Medicine201693
15A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevityNpj Genomic Medicine201991
16Evaluating the promise of inclusion of African ancestry populations in genomicsNpj Genomic Medicine202086
17Mechanistic signatures of HPV insertions in cervical carcinomasNpj Genomic Medicine201680
18Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survivalNpj Genomic Medicine201879
19Preparing for genomic medicine: a real world demonstration of health system changeNpj Genomic Medicine201773
20Both rare and common genetic variants contribute to autism in the Faroe IslandsNpj Genomic Medicine201972
21New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysisNpj Genomic Medicine201871
22Spontaneous mutations in the single TTN gene represent high tumor mutation burdenNpj Genomic Medicine202071
23Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significanceNpj Genomic Medicine201670
24Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer careNpj Genomic Medicine201668
25Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesNpj Genomic Medicine201767
26Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline diseaseNpj Genomic Medicine202067
27Phenotypic profiling of CFTR modulators in patient-derived respiratory epitheliaNpj Genomic Medicine201766
28Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathyNpj Genomic Medicine201864
29Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in MexicoNpj Genomic Medicine201964
30High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancerNpj Genomic Medicine201963
31Pharmacogenomics of COVID-19 therapiesNpj Genomic Medicine202063
32The importance of copy number variation in congenital heart diseaseNpj Genomic Medicine201662
33Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studiesNpj Genomic Medicine201759
34A framework to identify contributing genes in patients with Phelan-McDermid syndromeNpj Genomic Medicine201758
35Familial STAG2 germline mutation defines a new human cohesinopathyNpj Genomic Medicine201756
36Mutation load estimation model as a predictor of the response to cancer immunotherapyNpj Genomic Medicine201855
37A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysisNpj Genomic Medicine202054
38The landscape of driver mutations in cutaneous squamous cell carcinomaNpj Genomic Medicine202154
39Effective variant filtering and expected candidate variant yield in studies of rare human diseaseNpj Genomic Medicine202151
40A prognostic signature based on three-genes expression in triple-negative breast tumours with residual diseaseNpj Genomic Medicine201650
41Best practices for the interpretation and reporting of clinical whole genome sequencingNpj Genomic Medicine202248
42Incorporating epilepsy genetics into clinical practice: a 360°evaluationNpj Genomic Medicine201846
43Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancerNpj Genomic Medicine202146
44Machine-learning approach identifies a pattern of gene expression in peripheral blood that can accurately detect ischaemic strokeNpj Genomic Medicine201644
45Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from SingaporeNpj Genomic Medicine201644
46Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practicesNpj Genomic Medicine201844
47Associations of the intestinal microbiome with the complement system in neovascular age-related macular degenerationNpj Genomic Medicine202044
48Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP)Npj Genomic Medicine201843
49Complex genetics of female fertilityNpj Genomic Medicine201843
50Brain microRNAs associated with late-life depressive symptoms are also associated with cognitive trajectory and dementiaNpj Genomic Medicine202043