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exaly
›
Journals
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Npj Genomic Medicine
›
top-articles
Npj Genomic Medicine
4.6
(top 5%)
impact factor
421
(top 50%)
papers
7.4K
(top 20%)
citations
40
(top 20%)
h
-index
4.7
(top 10%)
extended IF
448
all documents
8.9K
doc citations
68
(top 20%)
g
-index
Top Articles
#
Title
Journal
Year
Citations
1
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Npj Genomic Medicine
2018
420
2
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Npj Genomic Medicine
2018
314
3
Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
Npj Genomic Medicine
2016
295
4
Genome-wide characteristics of de novo mutations in autism
Npj Genomic Medicine
2016
200
5
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Npj Genomic Medicine
2019
163
6
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Npj Genomic Medicine
2018
156
7
Genomic landscape of high-grade meningiomas
Npj Genomic Medicine
2017
130
8
Genomic and immune heterogeneity are associated with differential responses to therapy in melanoma
Npj Genomic Medicine
2017
120
9
A large data resource of genomic copy number variation across neurodevelopmental disorders
Npj Genomic Medicine
2019
118
10
Circular RNA expression is abundant and correlated to aggressiveness in early-stage bladder cancer
Npj Genomic Medicine
2017
105
11
Metastatic basal cell carcinoma with amplification of PD-L1: exceptional response to anti-PD1 therapy
Npj Genomic Medicine
2016
103
12
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese
Npj Genomic Medicine
2021
100
13
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion
Npj Genomic Medicine
2018
97
14
Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences
Npj Genomic Medicine
2016
93
15
A Mendelian randomization study of IL6 signaling in cardiovascular diseases, immune-related disorders and longevity
Npj Genomic Medicine
2019
91
16
Evaluating the promise of inclusion of African ancestry populations in genomics
Npj Genomic Medicine
2020
86
17
Mechanistic signatures of HPV insertions in cervical carcinomas
Npj Genomic Medicine
2016
80
18
Pan-cancer screen for mutations in non-coding elements with conservation and cancer specificity reveals correlations with expression and survival
Npj Genomic Medicine
2018
79
19
Preparing for genomic medicine: a real world demonstration of health system change
Npj Genomic Medicine
2017
73
20
Both rare and common genetic variants contribute to autism in the Faroe Islands
Npj Genomic Medicine
2019
72
21
New insights into structural features and optimal detection of circulating tumor DNA determined by single-strand DNA analysis
Npj Genomic Medicine
2018
71
22
Spontaneous mutations in the single TTN gene represent high tumor mutation burden
Npj Genomic Medicine
2020
71
23
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance
Npj Genomic Medicine
2016
70
24
Development and validation of a whole-exome sequencing test for simultaneous detection of point mutations, indels and copy-number alterations for precision cancer care
Npj Genomic Medicine
2016
68
25
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
Npj Genomic Medicine
2017
67
26
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
Npj Genomic Medicine
2020
67
27
Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia
Npj Genomic Medicine
2017
66
28
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy
Npj Genomic Medicine
2018
64
29
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico
Npj Genomic Medicine
2019
64
30
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer
Npj Genomic Medicine
2019
63
31
Pharmacogenomics of COVID-19 therapies
Npj Genomic Medicine
2020
63
32
The importance of copy number variation in congenital heart disease
Npj Genomic Medicine
2016
62
33
Genome-wide identification of inter-individually variable DNA methylation sites improves the efficacy of epigenetic association studies
Npj Genomic Medicine
2017
59
34
A framework to identify contributing genes in patients with Phelan-McDermid syndrome
Npj Genomic Medicine
2017
58
35
Familial STAG2 germline mutation defines a new human cohesinopathy
Npj Genomic Medicine
2017
56
36
Mutation load estimation model as a predictor of the response to cancer immunotherapy
Npj Genomic Medicine
2018
55
37
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis
Npj Genomic Medicine
2020
54
38
The landscape of driver mutations in cutaneous squamous cell carcinoma
Npj Genomic Medicine
2021
54
39
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Npj Genomic Medicine
2021
51
40
A prognostic signature based on three-genes expression in triple-negative breast tumours with residual disease
Npj Genomic Medicine
2016
50
41
Best practices for the interpretation and reporting of clinical whole genome sequencing
Npj Genomic Medicine
2022
48
42
Incorporating epilepsy genetics into clinical practice: a 360°evaluation
Npj Genomic Medicine
2018
46
43
Urinary exosome microRNA signatures as a noninvasive prognostic biomarker for prostate cancer
Npj Genomic Medicine
2021
46
44
Machine-learning approach identifies a pattern of gene expression in peripheral blood that can accurately detect ischaemic stroke
Npj Genomic Medicine
2016
44
45
Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore
Npj Genomic Medicine
2016
44
46
Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices
Npj Genomic Medicine
2018
44
47
Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration
Npj Genomic Medicine
2020
44
48
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP)
Npj Genomic Medicine
2018
43
49
Complex genetics of female fertility
Npj Genomic Medicine
2018
43
50
Brain microRNAs associated with late-life depressive symptoms are also associated with cognitive trajectory and dementia
Npj Genomic Medicine
2020
43
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