OOIR: Observatory of International Research

Papers

(The median citation count of npj Genomic Medicine is 5. 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
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
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	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
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	32
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	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
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
Geometric network analysis provides prognostic information in patients with high grade serous carcinoma of the ovary treated with immune checkpoint inhibitors	23
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	21
Structure and transcription of integrated HPV DNA in vulvar carcinomas	20
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	20
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
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
Pan-cancer atlas of somatic core and linker histone mutations	19
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
Recurrent integration of human papillomavirus genomes at transcriptional regulatory hubs	18
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
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
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
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
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
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
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
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
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

MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence	12
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations	12
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	12
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots	12
Author Correction: Loss of grand histone H3 lysine 27 trimethylation domains mediated transcriptional activation in esophageal squamous cell carcinoma	12
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system	12
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation	12
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants	12
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants	12
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia	12
High-resolution analysis for urinary DNA jagged ends	11
Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans	11
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture	11
Severe traumatic injury is associated with profound changes in DNA methylation	11
SMAD6-deficiency in human genetic disorders	11
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy	11
A novel deep intronic variant strongly associates with Alkaptonuria	11
A population study of clinically actionable genetic variation affecting drug response from the Middle East	11
The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer	10
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics	10
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	10
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders	10
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model	10
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	10
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	10
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma	10
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International	10
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses	10
Precision drugging of the MAPK pathway in head and neck cancer	10
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants	10
Breaking the mold with RNA—a “RNAissance” of life science	9
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas	9
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics	9
The QChip1 knowledgebase and microarray for precision medicine in Qatar	9
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases	9
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population	9
Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders	9
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance	9
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome	8
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder	8
Serum calcium and 25-hydroxyvitamin D in relation to longevity, cardiovascular disease and cancer: a Mendelian randomization study	8
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia	8
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome	7
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing	7
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	7
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing	7
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort	7
Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients	7
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity	6
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance	6
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing	6
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis	6
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders	6
Accurate detection of circulating tumor DNA using nanopore consensus sequencing	6
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome	6
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases	6
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies	6
VHL mosaicism: the added value of multi-tissue analysis	5
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data	5
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient	5
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders	5
Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes	5
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	5
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease	5
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador	5
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts	5
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients	5
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies	5
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants	5
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number	5
Medicine and health of 21st Century: Not just a high biotech-driven solution	5
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome	5