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 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
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma	19
Landscape of copy number variants in Spanish people with dementia	19
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
Personalized matched targeted therapy in advanced pancreatic cancer: a pilot cohort analysis	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
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
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study	13
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
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing	12
Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling	11
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots	11

Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results	11
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants	11
Polygenic height prediction for the Han Chinese in Taiwan	11
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system	10
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations	10
PopPK modeling supports BW band dosing of lacosamide for pediatric epilepsy	10
Bridging the gap: an emerging link between tubulinopathies and ciliopathies	10
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture	9
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE	9
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation	9
Expanding the phenotypic spectrum of FGF12-epilepsy—does prompt precision therapy affect outcomes?	9
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia	9
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants	9
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity	8
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International	8
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model	8
SMAD6-deficiency in human genetic disorders	8
Severe traumatic injury is associated with profound changes in DNA methylation	8
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy	8
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics	8
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation	8
Addressing genetic discrimination for stronger legal protections and enhanced public awareness	8
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma	8
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas	8
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants	7
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	7
AI-genomics synergy for drug repurposing in breast cancer: an interpretability-driven framework	6
Breaking the mold with RNA—a “RNAissance” of life science	6
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome	6
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing	6
BCL2 promoter region mutations are an independent marker of BCL2 level in lymphoid malignancies	6
Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders	6
Two cases of mosaic germline SVA insertions in SMARCB1: implications for rhabdoid tumour predisposition diagnosis	6
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics	6
Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study	6
Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome	6
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity	6
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	6
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases	6
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population	6
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	6
Exercise-induced lactic acidemia associated with a SLC16A13 biallelic variant	6
Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations – breaking the ‘rare disease’ status?	6
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders	5
Immuno-molecular features associated with exceptional recurrence–free survivorship from Ovarian Cancer in the pre-PARP era	5
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome	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
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants	5
Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript	5
Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases	5
Survey of U.S. reproductive medicine clinicians’ attitudes on polygenic embryo screening	5
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders	5
Whole-genome sequencing uncovers diverse genetic causes and phenotypic signatures in infantile nystagmus and albinism	5
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	5
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome	5
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases	5
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort	5
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing	5
Medicine and health of 21st Century: Not just a high biotech-driven solution	5
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients	5
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador	4
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease	4
Evolutionary history of LRRK2 and PRKN in leprosy and Parkinson’s disease	4
Co-design, implementation, and evaluation of plain language genomic test reports	4
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype	4
Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification	4
Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report	4
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies	4
Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	4
Transcriptomic effects of propranolol and primidone converge on molecular pathways relevant to essential tremor	4
CNS tumor stroma transcriptomics identify perivascular fibroblasts as predictors of immunotherapy resistance in glioblastoma patients	4
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient	4
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number	4
Inherited burden for disease predisposition in diverse populations	4
Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	4
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine	4
Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement	4