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 2022-05-01 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
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
Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome	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
A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5’-UTR loss-of-function CEP83 variant	25
Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D6	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
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children	23
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact	23
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
Genomics on FHIR – a feasibility study to support a National Strategy for Genomic Medicine	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
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height	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
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
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing	15
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
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
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
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
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
Molecular subtypes explain lupus epigenomic heterogeneity unveiling new regulatory genetic risk variants	11
Polygenic height prediction for the Han Chinese in Taiwan	11
Serum microRNA expression quantitative trait loci in children with asthma colocalize with asthma-related GWAS results	11
An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations	11
Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling	11
PopPK modeling supports BW band dosing of lacosamide for pediatric epilepsy	11

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots	10
uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic Telangiectasia	10
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system	10
Returning incidentally discovered Hepatitis C RNA-seq results to COPDGene study participants	10
Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy	9
Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation	9
Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE	9
Genomic heterogeneity in pancreatic cancer organoids and its stability with culture	9
Addressing genetic discrimination for stronger legal protections and enhanced public awareness	8
PDGF gene expression and p53 alterations contribute to the biology of diffuse astrocytic gliomas	8
CDK4 is co-amplified with either TP53 promoter gene fusions or MDM2 through distinct mechanisms in osteosarcoma	8
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity	8
SMAD6-deficiency in human genetic disorders	8
Severe traumatic injury is associated with profound changes in DNA methylation	8
Germline genetic variation and predicting immune checkpoint inhibitor induced toxicity	8
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels	8
Discovery of ancestry-specific variants associated with clopidogrel response among Caribbean Hispanics	8
Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International	8
Multifocal organoids reveal clonal associations between synchronous intestinal tumors with pervasive heterogeneous drug responses	8
MiRNA expression as outcome predictor in pediatric AML: systematic evaluation of a new model	8
Gut microbial and human genetic signatures of inflammatory bowel disease increase risk of comorbid mental disorders	7
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	7
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants	7
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases	7
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders	7
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population	7
Breaking the mold with RNA—a “RNAissance” of life science	7
Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population	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
PD-1 transcriptomic landscape across cancers and implications for immune checkpoint blockade outcome	6
Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations – breaking the ‘rare disease’ status?	6
Survey of U.S. reproductive medicine clinicians’ attitudes on polygenic embryo screening	6
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing	6
Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics	6
Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing	6
Saliva as a potential diagnostic medium: DNA methylation biomarkers for disorders beyond the oral cavity	6
Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases	5
Clinically significant germline pathogenic variants are missed by tumor genomic sequencing	5
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome	5
TERT c.3150 G > C (p.K1050N): a founder Ashkenazi Jewish variant associated with telomere biology disorders	5
Author Correction: A founder BRCA1 exonic duplication involving breakpoint in T2T reference genome-specific region results in constitutional fusion transcript	5
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants	5
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance	5
Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort	5
Immuno-molecular features associated with exceptional recurrence–free survivorship from Ovarian Cancer in the pre-PARP era	5
A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders	5
Cross center single-cell RNA sequencing study of the immune microenvironment in rapid progressing multiple myeloma	5
Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases	5
Targeted long-read sequencing enables higher diagnostic yield of ADPKD by accurate PKD1 genetic analysis	5
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts	5
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome	5
Germline structural variant as the cause of Lynch Syndrome in a family from Ecuador	4
Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes	4
A dominant negative ADIPOQ mutation in a diabetic family with renal disease, hypoadiponectinemia, and hyperceramidemia	4
Author Correction: The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort	4
A statistical perspective on baseline adjustment in pharmacogenomic genome-wide association studies of quantitative change	4
Expanding carrier screening: beyond the genes, to include underrepresented ancestries	4
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number	4
Genomic variations associated with risk and protection against vincristine-induced peripheral neuropathy in pediatric cancer patients	4
CNS tumor stroma transcriptomics identify perivascular fibroblasts as predictors of immunotherapy resistance in glioblastoma patients	4
Inherited burden for disease predisposition in diverse populations	4
Co-design, implementation, and evaluation of plain language genomic test reports	4
Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine	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
Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report	4
Medicine and health of 21st Century: Not just a high biotech-driven solution	4
Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient	4
Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing	4
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype	4
Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial	4
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets	4
Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease	4