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 2022-08-01 to 2026-08-01.)

Article	Citations
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	76
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	70
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	63
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia	58
Germline variants in cancer susceptibility genes among patients with mucosal melanoma	49
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	44
Efficient reinterpretation of rare disease cases using Exomiser	43
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	42
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	38
Systematic evaluation of long-read and short-read sequencing in neurological disorders diagnosis: a direct comparison study of 310 patients	37
Genome sequencing based sequential diagnostic strategy improve diagnosed yield of pediatric genetic kidney disease: a national multicenter study	36
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	35
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	34
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	33
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	33
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	31
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	30
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	29
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	29
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant	27
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	27
Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6	27
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	26
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	25
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	24

Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	24
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	24
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine	23
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height	22
SLC16A8 is a causal contributor to age-related macular degeneration risk	22
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
Structure and transcription of integrated HPV DNA in vulvar carcinomas	21
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry	20
Landscape of copy number variants in Spanish people with dementia	19
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma	19
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	18
Pan-cancer atlas of somatic core and linker histone mutations	18
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions	18
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients	17
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease	17
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
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways	16
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	16
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population	16
Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability	16
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases	16
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism	16
Scaling-up and future sustainability of a national reproductive genetic carrier screening program	15
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft	15
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration	15
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing	15
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	15
Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation	15
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates	15
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study	15
Rare variant enrichment analysis in pediatric European Moyamoya Angiopathy patients unveils novel candidate susceptibility genes	15
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	14
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity	14
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission	14
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study	13
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	13
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	13
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	13
Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort	13
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	13
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration	13
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	12
Systematic decision frameworks for the socially responsible use of precision medicine	12
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	12
Clinical and genetic characterization of patients with late onset Wilson’s disease	12
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population	12