OOIR: Observatory of International Research

Papers

(The TQCC of npj Genomic Medicine is 13. 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 2021-08-01 to 2025-08-01.)

Article	Citations
Homozygous duplication identified by whole genome sequencing causes LRBA deficiency	105
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	53
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	53
Lamin A/C missense variants: from discovery to functional validation	45
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	41
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	39
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	39
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	39
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	37
Efficient reinterpretation of rare disease cases using Exomiser	35
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	34
Long-read sequencing reveals the structural complexity of genomic integration of HBV DNA in hepatocellular carcinoma	33
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	32
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	32
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	31
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	29
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	28
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system	28
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	27
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	27
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	27
Single-cell RNA sequencing for the identification of early-stage lung cancer biomarkers from circulating blood	27
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets	26
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	24
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	23

Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	23
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	23
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	23
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	21
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height	20
Alternative splicing is coupled to gene expression in a subset of variably expressed genes	20
Structure and transcription of integrated HPV DNA in vulvar carcinomas	20
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	20
Pan-cancer atlas of somatic core and linker histone mutations	19
Application of full-genome analysis to diagnose rare monogenic disorders	19
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry	19
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	18
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine	18
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer	18
SLC16A8 is a causal contributor to age-related macular degeneration risk	18
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger	17
Kagami Ogata syndrome: a small deletion refines critical region for imprinting	17
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions	17
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population	17
KLF5 activates lncRNA DANCR and inhibits cancer cell autophagy accelerating gastric cancer progression	17
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease	17
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	17
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases	17
Scaling-up and future sustainability of a national reproductive genetic carrier screening program	16
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients	16
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	15
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	15
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates	15
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing	15
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration	15
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing	15
Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation	15
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	15
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission	15
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	15
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration	15
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study	15
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity	14
Clinical and genetic characterization of patients with late onset Wilson’s disease	14
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	14
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	14
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders	14
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	14
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	14
Systematic decision frameworks for the socially responsible use of precision medicine	14
Immune cell infiltration signatures identified molecular subtypes and underlying mechanisms in gastric cancer	13
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	13
The role of genetics in neurodegenerative dementia: a large cohort study in South China	13
Polygenic height prediction for the Han Chinese in Taiwan	13
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population	13