OOIR: Observatory of International Research

Papers

(The TQCC of npj Genomic Medicine is 12. 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 2022-01-01 to 2026-01-01.)

Article	Citations
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	124
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	60
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	54
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	46
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	42
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	42
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	39
Efficient reinterpretation of rare disease cases using Exomiser	38
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia	37
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	36
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	34
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	33
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	31
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	30
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	29
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	29
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	28
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	27
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	27
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	25
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant	25
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	23
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	23
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height	22
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	22

The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets	22
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry	21
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer	21
Alternative splicing is coupled to gene expression in a subset of variably expressed genes	21
SLC16A8 is a causal contributor to age-related macular degeneration risk	21
Structure and transcription of integrated HPV DNA in vulvar carcinomas	21
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma	20
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine	20
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	20
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population	19
Kagami Ogata syndrome: a small deletion refines critical region for imprinting	19
Pan-cancer atlas of somatic core and linker histone mutations	19
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways	19
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger	18
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases	18
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients	18
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease	18
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	18
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing	17
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions	17
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates	16
Scaling-up and future sustainability of a national reproductive genetic carrier screening program	16
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	16
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing	15
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	15
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	15
Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation	15
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration	15
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission	15
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft	15
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study	15
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	15
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	14
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity	14
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	14
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population	13
Systematic decision frameworks for the socially responsible use of precision medicine	13
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration	13
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	13
Clinical and genetic characterization of patients with late onset Wilson’s disease	13
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders	13
Polygenic height prediction for the Han Chinese in Taiwan	12
PopPK modeling supports BW band dosing of lacosamide for pediatric epilepsy	12
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations	12
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	12
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants	12
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system	12
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	12
Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results	12
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	12