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 2022-05-01 to 2026-05-01.)

Article	Citations
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	67
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	63
Efficient reinterpretation of rare disease cases using Exomiser	54
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia	52
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	46
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	40
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	40
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	39
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	36
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	33
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	32
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	32
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	32
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	32
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	28
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	28
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	27
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	26
Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6	25
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant	25
Implementing genomic newborn screening as an effective public health intervention: sidestepping the hype and criticism	24
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	24
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	23
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	23
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine	22

SLC16A8 is a causal contributor to age-related macular degeneration risk	22
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma	22
Structure and transcription of integrated HPV DNA in vulvar carcinomas	22
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height	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
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	19
Pan-cancer atlas of somatic core and linker histone mutations	19
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry	19
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways	18
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients	17
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions	17
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	17
Kagami Ogata syndrome: a small deletion refines critical region for imprinting	17
Variants in MTNAP1 underlie a neurodegenerative disorder by impairing mitochondrial stability	17
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger	17
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease	16
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases	16
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing	15
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population	15
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study	15
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism	15
Meta-analysis reveals transcription factors and DNA binding domain variants associated with congenital heart defect and orofacial cleft	14
Characteristics of Hepatitis B virus integration and mechanism of inducing chromosome translocation	14
Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing	14
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration	14
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	14
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates	14
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	14
Scaling-up and future sustainability of a national reproductive genetic carrier screening program	14
Integrating rapid exome sequencing into NICU clinical care after a pilot research study	13
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	13
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration	13
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission	13
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	13
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	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
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity	12
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	12
Systematic decision frameworks for the socially responsible use of precision medicine	12
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	12
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population	12
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	12
Clinical and genetic characterization of patients with late onset Wilson’s disease	12