OOIR: Observatory of International Research

Papers

(The median citation count of npj Genomic Medicine is 4. 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 2021-12-01 to 2025-12-01.)

Article	Citations
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	123
Evaluating the utility of multi-gene, multi-disease population-based panel testing accounting for uncertainty in penetrance estimates	59
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation	53
Clinical genome sequencing in patients with suspected rare genetic disease in Peru	44
Voluntary workplace genomic testing: wellness benefit or Pandora’s box?	42
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia	42
Lamin A/C missense variants: from discovery to functional validation	38
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort	36
Efficient reinterpretation of rare disease cases using Exomiser	36
A cost-effective sequencing method for genetic studies combining high-depth whole exome and low-depth whole genome	36
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects	33
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	33
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders	31
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders	31
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC	31
Eliciting parental preferences and values for the return of additional findings from genomic sequencing	29
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses	29
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates	28
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing	27
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	27
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant	25
Functional assessment of IDUA variants of uncertain significance identified by newborn screening	24
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	24
Machine learning-based detection of immune-mediated diseases from genome-wide cell-free DNA sequencing datasets	22
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
Pan-cancer atlas of somatic core and linker histone mutations	21
SLC16A8 is a causal contributor to age-related macular degeneration risk	21
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry	20
Direct cell-to-cell transfer in stressed tumor microenvironment aggravates tumorigenic or metastatic potential in pancreatic cancer	20
Structure and transcription of integrated HPV DNA in vulvar carcinomas	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
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma	20
Kagami Ogata syndrome: a small deletion refines critical region for imprinting	19
Alternative splicing is coupled to gene expression in a subset of variably expressed genes	19
Genetic ancestry and diagnostic yield of exome sequencing in a diverse population	19
Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathways	19
Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	18
Analysis of cell free DNA to predict outcome to bevacizumab therapy in colorectal cancer patients	18
Clinical TP53 genetic testing is recommended for HER2-positive breast cancer patients aged 35 or younger	18
Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease	17
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions	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
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing	16
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study	16
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing	16
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
Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus	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
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA	14
MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission	14
Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration	14
Never-homozygous genetic variants in healthy populations are potential recessive disease candidates	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
DNA and RNA base editors can correct the majority of pathogenic single nucleotide variants	14
Systematic decision frameworks for the socially responsible use of precision medicine	13
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant	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
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment	13
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
PopPK modeling supports BW band dosing of lacosamide for pediatric epilepsy	12
Polygenic height prediction for the Han Chinese in Taiwan	12
Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results	12
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants	12
Huntington’s disease age at motor onset is modified by the tandem hexamer repeat in TCERG1	12
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations	12
High-resolution analysis for urinary DNA jagged ends	11

Genomic heterogeneity in pancreatic cancer organoids and its stability with culture	11
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots	11
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation	11
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants	11
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system	11
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia	11
Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis	11
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy	11
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	10
A population study of clinically actionable genetic variation affecting drug response from the Middle East	10
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model	10
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics	10
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses	10
Severe traumatic injury is associated with profound changes in DNA methylation	10
The salivary metatranscriptome as an accurate diagnostic indicator of oral cancer	10
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma	10
SMAD6-deficiency in human genetic disorders	10
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International	10
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	9
Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders	9
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas	9
Precision drugging of the MAPK pathway in head and neck cancer	9
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	9
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders	9
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants	9
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases	8
The QChip1 knowledgebase and microarray for precision medicine in Qatar	8
Breaking the mold with RNA—a “RNAissance” of life science	8
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia	7
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing	7
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome	7
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder	7
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population	7
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort	7
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing	7
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics	7
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance	7
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity	7
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome	7
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	7
Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases	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
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
Survey of U.S. reproductive medicine clinicians’ attitudes on polygenic embryo screening	6
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders	6
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome	6
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome	5
VHL mosaicism: the added value of multi-tissue analysis	5
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants	5
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients	5
Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript	5
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts	5
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	5
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders	5
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis	5
Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes	5
Accurate detection of circulating tumor DNA using nanopore consensus sequencing	5
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data	5
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number	4
Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	4
Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	4
Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report	4
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease	4
Co-design, implementation, and evaluation of plain language genomic test reports	4
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor	4
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies	4
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient	4
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador	4
CNS tumor stroma transcriptomics identify perivascular fibroblasts as predictors of immunotherapy resistance in glioblastoma patients	4
Medicine and health of 21st Century: Not just a high biotech-driven solution	4