npj Genomic Medicine

Papers
(The TQCC of npj Genomic Medicine is 14. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Efficient reinterpretation of rare disease cases using Exomiser94
A UGT1A1 variant is associated with serum total bilirubin levels, which are causal for hypertension in African-ancestry individuals81
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?76
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency58
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects49
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates49
Clinical genome sequencing in patients with suspected rare genetic disease in Peru47
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation47
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort43
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome41
The landscape of driver mutations in cutaneous squamous cell carcinoma36
Genes and pathways monotonically dysregulated during progression from normal through leukoplakia to gingivo-buccal oral cancer36
Lamin A/C missense variants: from discovery to functional validation35
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC34
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma33
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system31
Author Correction: Genetic basis of hypercholesterolemia in adults31
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood30
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses30
Eliciting parental preferences and values for the return of additional findings from genomic sequencing29
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome28
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders28
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates28
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects28
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism26
Functional assessment of IDUA variants of uncertain significance identified by newborn screening26
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors26
The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank25
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets24
Pan-cancer atlas of somatic core and linker histone mutations23
Alternative splicing is coupled to gene expression in a subset of variably expressed genes23
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets23
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height22
SLC16A8 is a causal contributor to age-related macular degeneration risk22
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis21
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry21
Structure and transcription of integrated HPV DNA in vulvar carcinomas21
Application of full-genome analysis to diagnose rare monogenic disorders19
Kagami Ogata syndrome: a small deletion refines critical region for imprinting19
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs19
KLF5 activates lncRNA DANCR and inhibits cancer cell autophagy accelerating gastric cancer progression19
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer19
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases18
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial18
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease18
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients18
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population18
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions17
Molecular classification of blood and bleeding disorder genes17
Telomere biology disorders17
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus17
Genetic discrimination: introducing the Asian perspective to the debate16
Metastatic heterogeneity of the consensus molecular subtypes of colorectal cancer16
Scaling-up and future sustainability of a national reproductive genetic carrier screening program16
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study16
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates16
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment15
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity15
Association between genes regulating neural pathways for quantitative traits of speech and language disorders15
Integrated diagnosis based on transcriptome analysis in suspected pediatric sarcomas15
Integrating rapid exome sequencing into NICU clinical care after a pilot research study15
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant15
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing15
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration15
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants15
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA15
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing15
Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation15
Systematic decision frameworks for the socially responsible use of precision medicine14
Genome-wide discovery of hidden genes mediating known drug-disease association using KDDANet14
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders14
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG114
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population14
Clinical and genetic characterization of patients with late onset Wilson’s disease14
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing14
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